AF4/FMR2 family, member 2 (AFF2) - coding DNA reference sequence

(used for variant description)

(last modified July 25, 2018)


This file was created to facilitate the description of sequence variants on transcript NM_002025.3 in the AFF2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_016313.1, covering AFF2 transcript NM_002025.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5059
  cgccgcctgtgcagccgctgccgccgccgccgccgccgccgccgccgccgccgccgccg       c.-421

 .         .         .         .         .         .                g.5119
 ccgccgctgccgccccggctgccgcgccgcgccgctgcctctgccccggccgcccccgcc       c.-361

 .         .         .         .         .         .                g.5179
 gccgctgccgccgccggcccgcagccagccaggcgggcggcccagcccgcctgagcccgc       c.-301

 .         .         .         .         .         .                g.5239
 agcggctgccgccgcagcgtcgggtcgctgggtgcgcgggctaccgcggaccgagcggac       c.-241

 .         .         .         .         .         .                g.5299
 ccgagtgggcgaccaggcgcttgcccgcccagtgccactgccgccgcttcctcgccggag       c.-181

 .         .         .         .         .         .                g.5359
 cacaggaccagacacctccagcgcccgctgctgctgccgatgcggcccggacacttttag       c.-121

 .         .         .         .         .         .                g.5419
 ctgggcgggagggctggagagccgggggccgccgagaaccgccagcgagctgtgccgaga       c.-61

 .         .         .         .         .         .                g.5479
 gccgcgccgacccgctgcgatcagggacaggcgcccgcccgccgccgccgcctggccgct       c.-1

          .         .         .         .        | 02.         .    g.156394
 ATGGATCTATTCGACTTTTTCAGAGACTGGGACTTGGAGCAGCAGTG | TCACTATGAACAA    c.60
 M  D  L  F  D  F  F  R  D  W  D  L  E  Q  Q  C  |  H  Y  E  Q      p.20

          .         .         .         .         .         .       g.156454
 GACCGTAGTGCACTTAAAAAAAGGGAATGGGAGCGGAGGAATCAAGAAGTCCAGCAAGAA       c.120
 D  R  S  A  L  K  K  R  E  W  E  R  R  N  Q  E  V  Q  Q  E         p.40

          .         .         .         .         .         .       g.156514
 GACGATCTCTTTTCTTCAGGCTTTGATCTTTTTGGGGAGCCATACAAGGTAGCTGAATAT       c.180
 D  D  L  F  S  S  G  F  D  L  F  G  E  P  Y  K  V  A  E  Y         p.60

  | 03       .         .         .         .         .         .    g.166350
  | ACAAACAAAGGTGATGCACTTGCCAACCGAGTCCAGAACACGCTTGGAAACTATGATGAA    c.240
  | T  N  K  G  D  A  L  A  N  R  V  Q  N  T  L  G  N  Y  D  E      p.80

          .         .         .         .         .         .       g.166410
 ATGAAGAATTTGCTAACTAACCATTCTAATCAGAATCACCTAGTGGGAATTCCAAAGAAT       c.300
 M  K  N  L  L  T  N  H  S  N  Q  N  H  L  V  G  I  P  K  N         p.100

          .         .         .         .         .         .       g.166470
 TCTGTGCCCCAGAATCCCAACAACAAAAATGAACCAAGCTTTTTTCCAGAACAAAAGAAC       c.360
 S  V  P  Q  N  P  N  N  K  N  E  P  S  F  F  P  E  Q  K  N         p.120

          .         .         .         .         .         .       g.166530
 AGAATAATTCCACCTCACCAGGATAATACCCATCCTTCAGCACCAATGCCTCCACCTTCT       c.420
 R  I  I  P  P  H  Q  D  N  T  H  P  S  A  P  M  P  P  P  S         p.140

          .         .         .         .         .         .       g.166590
 GTTGTGATACTGAATTCAACTCTAATACACAGCAACAGAAAATCAAAACCTGAGTGGTCA       c.480
 V  V  I  L  N  S  T  L  I  H  S  N  R  K  S  K  P  E  W  S         p.160

          .         .         .         .         .         .       g.166650
 CGTGATAGTCATAACCCTAGCACTGTACTGGCAAGCCAGGCCAGTGGTCAGCCAAACAAG       c.540
 R  D  S  H  N  P  S  T  V  L  A  S  Q  A  S  G  Q  P  N  K         p.180

          .         .         .         .         .         .       g.166710
 ATGCAGACTTTGACACAGGACCAGTCTCAAGCCAAACTGGAAGACTTCTTTGTCTACCCA       c.600
 M  Q  T  L  T  Q  D  Q  S  Q  A  K  L  E  D  F  F  V  Y  P         p.200

          .         .         .         .         .         .       g.166770
 GCTGAACAGCCCCAGATTGGAGAAGTTGAAGAGTCAAACCCATCTGCAAAGGAAGACAGT       c.660
 A  E  Q  P  Q  I  G  E  V  E  E  S  N  P  S  A  K  E  D  S         p.220

          .         .         .         .         .         .       g.166830
 AACCCTAATTCTAGTGGAGAAGATGCTTTCAAAGAAATCTTTCAATCCAATTCACCGGAA       c.720
 N  P  N  S  S  G  E  D  A  F  K  E  I  F  Q  S  N  S  P  E         p.240

          .         .         .         .         .         .       g.166890
 GAATCTGAATTCGCCGTGCAAGCGCCTGGGTCTCCCCTAGTGGCTTCCTCTTTATTAGCT       c.780
 E  S  E  F  A  V  Q  A  P  G  S  P  L  V  A  S  S  L  L  A         p.260

          .         .         .         .         .         .       g.166950
 CCTAGCAGTGGCCTTTCAGTTCAAAACTTCCCACCAGGGCTTTACTGCAAAACAAGCATG       c.840
 P  S  S  G  L  S  V  Q  N  F  P  P  G  L  Y  C  K  T  S  M         p.280

          .         .         .         .         .         .       g.167010
 GGGCAGCAAAAGCCAACTGCATACGTCAGACCCATGGATGGCCAGGACCAGGCACCGGAC       c.900
 G  Q  Q  K  P  T  A  Y  V  R  P  M  D  G  Q  D  Q  A  P  D         p.300

          .         .         .         .         .         .       g.167070
 ATCTCACCAACACTGAAACCTTCAATTGAATTTGAGAACAGCTTTGGGAATCTGTCATTT       c.960
 I  S  P  T  L  K  P  S  I  E  F  E  N  S  F  G  N  L  S  F         p.320

          .         .         .         .         .         .       g.167130
 GGAACACTCTTGGATGGAAAACCCAGTGCAGCCAGTTCAAAGACTAAACTGCCAAAGTTC       c.1020
 G  T  L  L  D  G  K  P  S  A  A  S  S  K  T  K  L  P  K  F         p.340

          .         .  | 04      .         .         .         .    g.314300
 ACCATCCTCCAAACAAGTGAA | GTAAGCCTTCCCAGTGATCCAAGCTGTGTTGAAGAAATC    c.1080
 T  I  L  Q  T  S  E   | V  S  L  P  S  D  P  S  C  V  E  E  I      p.360

        | 05 .         .         .         .         .         .    g.342086
 TTGCGG | GAGATGACCCATTCCTGGCCTACTCCTCTCACTTCCATGCATACTGCTGGACAC    c.1140
 L  R   | E  M  T  H  S  W  P  T  P  L  T  S  M  H  T  A  G  H      p.380

          .         .         .    | 06    .         .         .    g.347378
 TCTGAGCAGAGCACCTTTTCCATCCCAGGACAG | GAATCGCAGCATCTGACCCCAGGATTC    c.1200
 S  E  Q  S  T  F  S  I  P  G  Q   | E  S  Q  H  L  T  P  G  F      p.400

          . | 07       .         .         .         .         .    g.347817
 ACCTTACAAA | AGTGGAATGACCCAACCACCAGAGCTTCTACAAAGTCAGTGTCTTTCAAA    c.1260
 T  L  Q  K |   W  N  D  P  T  T  R  A  S  T  K  S  V  S  F  K      p.420

    | 08     .         .         .         .         .         .    g.390338
 TC | GATGCTTGAGGATGACCTGAAGCTGAGCAGTGATGAAGATGACCTTGAGCCTGTGAAG    c.1320
 S  |  M  L  E  D  D  L  K  L  S  S  D  E  D  D  L  E  P  V  K      p.440

          .         .         .          | 09        .         .    g.408633
 ACCTTGACCACTCAGTGCACTGCCACTGAGCTCTACCAG | GCTGTTGAAAAGGCAAAACCT    c.1380
 T  L  T  T  Q  C  T  A  T  E  L  Y  Q   | A  V  E  K  A  K  P      p.460

          .        | 10.         .         .         .         .    g.458014
 AGGAATAATCCTGTGAA | CCCACCCTTGGCCACTCCCCAGCCCCCACCTGCAGTGCAAGCC    c.1440
 R  N  N  P  V  N  |  P  P  L  A  T  P  Q  P  P  P  A  V  Q  A      p.480

          .         .         .         .         .         .       g.458074
 AGCGGGGGTTCTGGCAGCTCCAGCGAATCGGAGAGCAGCTCTGAGTCGGATTCAGACACT       c.1500
 S  G  G  S  G  S  S  S  E  S  E  S  S  S  E  S  D  S  D  T         p.500

          .         .         .         .         .        | 11.    g.459997
 GAAAGTAGCACCACTGACAGCGAATCTAATGAGGCACCTCGTGTGGCAACTCCAGAG | CCT    c.1560
 E  S  S  T  T  D  S  E  S  N  E  A  P  R  V  A  T  P  E   | P      p.520

          .         .         .         .         .         .       g.460057
 GAGCCACCCTCAACCAACAAGTGGCAACTGGATAAATGGCTTAACAAAGTGACATCCCAG       c.1620
 E  P  P  S  T  N  K  W  Q  L  D  K  W  L  N  K  V  T  S  Q         p.540

          .         .         .         .         .         .       g.460117
 AACAAGTCTTTTATTTGTGGCCAAAATGAAACACCCATGGAGACTATTTCTCTGCCTCCT       c.1680
 N  K  S  F  I  C  G  Q  N  E  T  P  M  E  T  I  S  L  P  P         p.560

          .         .         .         .         .         .       g.460177
 CCAATCATCCAACCAATGGAAGTCCAGATGAAAGTGAAGACGAATGCCAGTCAGGTCCCA       c.1740
 P  I  I  Q  P  M  E  V  Q  M  K  V  K  T  N  A  S  Q  V  P         p.580

          .         .         .         .         .         .       g.460237
 GCTGAACCCAAAGAAAGGCCTCTCCTCAGTCTCATTAGGGAGAAAGCCCGTCCACGGCCC       c.1800
 A  E  P  K  E  R  P  L  L  S  L  I  R  E  K  A  R  P  R  P         p.600

          .         .         .         .         .         .       g.460297
 ACTCAGAAAATTCCAGAAACAAAGGCTTTGAAGCATAAGTTGTCAACAACTAGTGAGACA       c.1860
 T  Q  K  I  P  E  T  K  A  L  K  H  K  L  S  T  T  S  E  T         p.620

          .         .         .         .         .         .       g.460357
 GTGTCTCAAAGGACAATTGGGAAAAAACAGCCCAAAAAAGTTGAGAAGAACACCAGCACT       c.1920
 V  S  Q  R  T  I  G  K  K  Q  P  K  K  V  E  K  N  T  S  T         p.640

          .         .         .         .         .         .       g.460417
 GACGAGTTTACCTGGCCCAAACCAAATATTACCAGCAGCACTCCCAAAGAAAAAGAAAGT       c.1980
 D  E  F  T  W  P  K  P  N  I  T  S  S  T  P  K  E  K  E  S         p.660

          .         .         .         .         .         .       g.460477
 GTGGAGCTTCATGACCCACCAAGAGGCCGCAACAAAGCCACTGCCCACAAACCAGCCCCT       c.2040
 V  E  L  H  D  P  P  R  G  R  N  K  A  T  A  H  K  P  A  P         p.680

          .         .         .         .         .         .       g.460537
 AGGAAAGAACCAAGACCTAACATCCCTTTGGCTCCCGAGAAGAAGAAGTACAGAGGGCCT       c.2100
 R  K  E  P  R  P  N  I  P  L  A  P  E  K  K  K  Y  R  G  P         p.700

          .         .         .         .         .         .       g.460597
 GGCAAGATTGTGCCAAAGTCTCGGGAATTCATTGAAACAGATTCATCTACATCTGACTCC       c.2160
 G  K  I  V  P  K  S  R  E  F  I  E  T  D  S  S  T  S  D  S         p.720

          .         .         .         .         .         .       g.460657
 AACACAGATCAGGAAGAGACCCTGCAAATCAAAGTCCTGCCTCCGTGCATTATTTCTGGA       c.2220
 N  T  D  Q  E  E  T  L  Q  I  K  V  L  P  P  C  I  I  S  G         p.740

          .         .         .         .         .         .       g.460717
 GGTAATACTGCCAAATCCAAGGAAATCTGTGGTGCCAGCCTGACCCTCAGCACCTTAATG       c.2280
 G  N  T  A  K  S  K  E  I  C  G  A  S  L  T  L  S  T  L  M         p.760

          .         .         .         .         .         .       g.460777
 AGTAGCAGTGGCAGCAACAACAACTTATCCATCAGTAATGAAGAGCCAACATTTTCACCT       c.2340
 S  S  S  G  S  N  N  N  L  S  I  S  N  E  E  P  T  F  S  P         p.780

          .         .         .         .         .         .       g.460837
 ATTCCTGTCATGCAAACTGAAATCCTGTCCCCTCTGCGAGATCATGAGAACCTGAAAAAC       c.2400
 I  P  V  M  Q  T  E  I  L  S  P  L  R  D  H  E  N  L  K  N         p.800

          .         .         .         .         .         .       g.460897
 CTCTGGGTGAAGATTGACCTTGACTTACTCTCTAGAGTACCTGGCCACAGCTCACTCCAT       c.2460
 L  W  V  K  I  D  L  D  L  L  S  R  V  P  G  H  S  S  L  H         p.820

          .         .         .         .         .         .       g.460957
 GCAGCACCTGCCAAGCCAGACCACAAGGAGACTGCCACAAAACCCAAGCGTCAGACAGCT       c.2520
 A  A  P  A  K  P  D  H  K  E  T  A  T  K  P  K  R  Q  T  A         p.840

          .         .         .         .         | 12         .    g.462740
 GTCACAGCTGTGGAGAAACCAGCCCCTAAGGGCAAACGTAAGCACAAG | CCAATAGAAGTT    c.2580
 V  T  A  V  E  K  P  A  P  K  G  K  R  K  H  K   | P  I  E  V      p.860

          .         .         .         .         .         .       g.462800
 GCAGAGAAGATCCCTGAGAAGAAGCAGCGCCTGGAGGAGGCCACAACTATCTGCTTGCTC       c.2640
 A  E  K  I  P  E  K  K  Q  R  L  E  E  A  T  T  I  C  L  L         p.880

          .         .         .         .         . | 13       .    g.467116
 CCTCCTTGCATCTCACCAGCCCCACCCCACAAGCCTCCCAACACTAGAGA | AAATAATTCA    c.2700
 P  P  C  I  S  P  A  P  P  H  K  P  P  N  T  R  E  |  N  N  S      p.900

          .         .         .         .         .         .       g.467176
 TCCAGGAGAGCAAATAGAAGAAAGGAAGAAAAACTATTTCCTCCTCCACTTTCCCCACTG       c.2760
 S  R  R  A  N  R  R  K  E  E  K  L  F  P  P  P  L  S  P  L         p.920

          .         .         .         .         .         .       g.467236
 CCAGAGGACCCTCCACGCCGCAGAAATGTCAGTGGCAATAATGGTCCCTTTGGTCAAGAC       c.2820
 P  E  D  P  P  R  R  R  N  V  S  G  N  N  G  P  F  G  Q  D         p.940

          .         .         .         .         .         .       g.467296
 AAAAACATCGCCATGACTGGACAAATCACATCTACCAAACCTAAGAGAACTGAAGGCAAA       c.2880
 K  N  I  A  M  T  G  Q  I  T  S  T  K  P  K  R  T  E  G  K         p.960

          .         .         .    | 14    .         .         .    g.471208
 TTCTGTGCTACTTTCAAAGGGATATCGGTAAAT | GAGGGAGACACTCCAAAAAAGGCATCC    c.2940
 F  C  A  T  F  K  G  I  S  V  N   | E  G  D  T  P  K  K  A  S      p.980

          .         .         .         .         .         .       g.471268
 TCTGCCACCATCACTGTCACCAATACTGCTATTGCCACTGCTACTGTCACTGCTACTGCC       c.3000
 S  A  T  I  T  V  T  N  T  A  I  A  T  A  T  V  T  A  T  A         p.1000

          .         .         .         .         .         .       g.471328
 ATTGTCACCACCACTGTCACAGCTACTGCCACCGCCACGGCCACCACCACAACTACTACC       c.3060
 I  V  T  T  T  V  T  A  T  A  T  A  T  A  T  T  T  T  T  T         p.1020

          .         .         .         .         .         .       g.471388
 ACTACCATTTCCACCATCACCTCTACCATCACTACTGGCCTCATGGATAGCAGTCACCTG       c.3120
 T  T  I  S  T  I  T  S  T  I  T  T  G  L  M  D  S  S  H  L         p.1040

          .         .         .         .         .         .       g.471448
 GAGATGACGTCCTGGGCGGCTCTGCCCCTTCTATCCAGCAGCAGCACTAATGTCCGGAGA       c.3180
 E  M  T  S  W  A  A  L  P  L  L  S  S  S  S  T  N  V  R  R         p.1060

          .         .    | 15    .         .         .         .    g.472057
 CCCAAGCTCACTTTTGATGACTC | GGTTCACAATGCTGATTATTACATGCAAGAAGCTAAG    c.3240
 P  K  L  T  F  D  D  S  |  V  H  N  A  D  Y  Y  M  Q  E  A  K      p.1080

          .         .        | 16.         .         .         .    g.477895
 AAGCTGAAGCACAAAGCTGATGCACTG | TTCGAGAAATTTGGCAAAGCTGTGAATTATGCT    c.3300
 K  L  K  H  K  A  D  A  L   | F  E  K  F  G  K  A  V  N  Y  A      p.1100

          .         .         .         .         .         .       g.477955
 GATGCCGCCCTCTCCTTCACTGAATGTGGCAATGCCATGGAACGCGACCCTCTGGAAGCA       c.3360
 D  A  A  L  S  F  T  E  C  G  N  A  M  E  R  D  P  L  E  A         p.1120

          .         .         .         .     | 17   .         .    g.482340
 AAGTCCCCATACACCATGTACTCTGAGACTGTGGAGCTCCTCAG | GTATGCAATGAGGCTG    c.3420
 K  S  P  Y  T  M  Y  S  E  T  V  E  L  L  R  |  Y  A  M  R  L      p.1140

          .         .         .         .         .       | 18 .    g.482757
 AAGAACTTTGCAAGTCCCTTGGCTTCGGATGGGGACAAAAAGCTAGCAGTACTATG | CTAC    c.3480
 K  N  F  A  S  P  L  A  S  D  G  D  K  K  L  A  V  L  C  |  Y      p.1160

          .         .         .         .         .         .       g.482817
 CGATGTTTATCACTCCTCTATTTGAGAATGTTTAAGCTGAAGAAGGACCATGCTATGAAG       c.3540
 R  C  L  S  L  L  Y  L  R  M  F  K  L  K  K  D  H  A  M  K         p.1180

          .         .         . | 19       .         .         .    g.485159
 TACTCCAGATCACTGATGGAATATTTTAAG | CAAAATGCTTCAAAAGTCGCACAGATACCC    c.3600
 Y  S  R  S  L  M  E  Y  F  K   | Q  N  A  S  K  V  A  Q  I  P      p.1200

          .         .    | 20    .         .         .         .    g.491795
 TCTCCATGGGTAAGCAATGGAAA | GAACACTCCATCCCCAGTGTCTCTCAACAACGTCTCC    c.3660
 S  P  W  V  S  N  G  K  |  N  T  P  S  P  V  S  L  N  N  V  S      p.1220

          .         .         .         .         .         .       g.491855
 CCCATCAACGCAATGGGGAACTGTAACAATGGCCCAGTCACCATTCCCCAGCGCATTCAC       c.3720
 P  I  N  A  M  G  N  C  N  N  G  P  V  T  I  P  Q  R  I  H         p.1240

          .         .         .         .         .         .       g.491915
 CACATGGCTGCCAGCCACGTCAACATCACTAGCAATGTGTTACGGGGCTATGAACACTGG       c.3780
 H  M  A  A  S  H  V  N  I  T  S  N  V  L  R  G  Y  E  H  W         p.1260

          .         .         .     | 21   .         .         .    g.495628
 GATATGGCCGACAAACTGACAAGAGAAAACAAAG | AATTCTTTGGTGATCTGGACACGCTG    c.3840
 D  M  A  D  K  L  T  R  E  N  K  E |   F  F  G  D  L  D  T  L      p.1280

          .         .         .         .         .         .       g.495688
 ATGGGGCCTCTGACCCAGCACAGCAGCATGACCAATCTTGTCCGCTACGTTCGCCAAGGA       c.3900
 M  G  P  L  T  Q  H  S  S  M  T  N  L  V  R  Y  V  R  Q  G         p.1300

          .         .         .                                     g.495724
 CTGTGTTGGCTGCGCATCGATGCCCACTTGTTGTAG                               c.3936
 L  C  W  L  R  I  D  A  H  L  L  X                                 p.1311

          .         .         .         .         .         .       g.495784
 tgggtgttctcagatctctagcatcacgacccatcactctacctctaccagcgcactgat       c.*60

          .         .         .         .         .         .       g.495844
 ggtcactggtggaactccactcactggggaacgttctctttggttatgtttgtttttatg       c.*120

          .         .         .         .         .         .       g.495904
 cttcttttgttatctgtaaaaaacagaagtcattgtaagttgacactacaacttaagggc       c.*180

          .         .         .         .         .         .       g.495964
 agtgtacgttttattacttagtcattttttttcttttagcatttgatatgcatttctcag       c.*240

          .         .         .         .         .         .       g.496024
 attccaccatctttttgtgctttatggaatgacagtccctacaatattgttttaagccca       c.*300

          .         .         .         .         .         .       g.496084
 cactacccaaaacaaagaatgggaagcacttgtgataaagacaggctcctgagaaatgca       c.*360

          .         .         .         .         .         .       g.496144
 acaagtggtcttacatatacatgagaacttagacacaagggaccatcccccaaactctac       c.*420

          .         .         .         .         .         .       g.496204
 tcttatacccagaaaagaacatatttcagaatctgtcaaacttttgtgtatcccacagat       c.*480

          .         .         .         .         .         .       g.496264
 tcaatcttcaggtgagaattttcattgtcaaaacccactggttagatgttgtagcaacat       c.*540

          .         .         .         .         .         .       g.496324
 cataaaatcaagagtatcaagaaaataaatgagcatagcaatgctactcttaaaaagatg       c.*600

          .         .         .         .         .         .       g.496384
 ctatgccacacaaccagaggactttcttgttagcatccctttcctgattccctattttgt       c.*660

          .         .         .         .         .         .       g.496444
 taattttaatgataagaagaaagggtgacatttattttgacaagttttaggcatcagctg       c.*720

          .         .         .         .         .         .       g.496504
 gcatcagtgtttttcaactccattatttgaagtgtaaatcctcacctggggttctctgtg       c.*780

          .         .         .         .         .         .       g.496564
 tgcaaagctgtccttttgaagaacagtttggttgatgcatgccttagtagccaaaatgct       c.*840

          .         .         .         .         .         .       g.496624
 acactctagacttacaagtgggagttaagagaggtctggaaagtgtccaacaaggaattc       c.*900

          .         .         .         .         .         .       g.496684
 acacctctgcctcctttgcaacaacaacatttacacagttggtaagtgggtccataactg       c.*960

          .         .         .         .         .         .       g.496744
 gcaggatttttaaattgtattttgctcaaatctatgggaacaaaagtcaaggtatcacta       c.*1020

          .         .         .         .         .         .       g.496804
 cctagaagtaatgatatacagttttcttcctagtggcttgaaaatctggacttcctcaat       c.*1080

          .         .         .         .         .         .       g.496864
 tattattcacattttctctcttataggttttctgttttctactttcttttttctcttatc       c.*1140

          .         .         .         .         .         .       g.496924
 tgtgtttccctttcctttgtttggctcattaacttttgactgaattacaattactccttt       c.*1200

          .         .         .         .         .         .       g.496984
 tattaaagtccatattattgtgaatcatttccatgaaaatttctaagaaaactccaaact       c.*1260

          .         .         .         .         .         .       g.497044
 ctctaaatagtagctaacttttatttttttaaaatgagtcgtggggtagtgcttcacctt       c.*1320

          .         .         .         .         .         .       g.497104
 gagatgctttgaaagagccctaaacattgggaaccattcacctaatttggagacatttct       c.*1380

          .         .         .         .         .         .       g.497164
 cactggttgtgactacccccttatgatccttcacattcattttatgtccctaaacatcac       c.*1440

          .         .         .         .         .         .       g.497224
 aatgtaaatatcatttttgatgttccagctcaccagaagattcttacacttggggtaaac       c.*1500

          .         .         .         .         .         .       g.497284
 actatccatgcattacttactggtaattacctgctggtatataattccatgtagccttta       c.*1560

          .         .         .         .         .         .       g.497344
 atatgctgggttatcaaattctgttcactgagttatgaccagataaataatagatatgca       c.*1620

          .         .         .         .         .         .       g.497404
 catgaaagatgcaaacttgtgtgattattaaagccagccatgcaggtccatgatagaaac       c.*1680

          .         .         .         .         .         .       g.497464
 agcaggtgatgactctgcactctcattgtcaaggttagatatatccccagttgcaaaaca       c.*1740

          .         .         .         .         .         .       g.497524
 gccagacttgagctgtgctctggtcatctttgagtttaaggccttttgttgtataaggct       c.*1800

          .         .         .         .         .         .       g.497584
 gtggaagttgtactccaatggctgaagccatgttgttaatatggctgatgggagcatccc       c.*1860

          .         .         .         .         .         .       g.497644
 tgcagctgaacccagcactttttatgctcccactgtggttgagctttatgtttacagtct       c.*1920

          .         .         .         .         .         .       g.497704
 cagcaacaacacttatgcatccaaacactcacaaatgaaacctgaaagaatcttttctga       c.*1980

          .         .         .         .         .         .       g.497764
 gcctcttaaaagaggaaaatgatgataacattaaagactctgaacacccaaggttggtgt       c.*2040

          .         .         .         .         .         .       g.497824
 cacatataaaaattaagctgatgactttgcagtgactcaagttgtctctttatcatggtt       c.*2100

          .         .         .         .         .         .       g.497884
 taccaggtagagtgcctggctattactatataatgaagcccactggcttgacttgtaagt       c.*2160

          .         .         .         .         .         .       g.497944
 tcaacctaaaccacaatcctagaccatcatggatttaggagtagattcttcttgaaatcc       c.*2220

          .         .         .         .         .         .       g.498004
 cacatccagaaactagacattagaatgttgaggcagtttcccagagaaacaagcatattg       c.*2280

          .         .         .         .         .         .       g.498064
 cctcatggatgaaagacttgtagttctagtttcagtgacttgttatatctacttacatac       c.*2340

          .         .         .         .         .         .       g.498124
 aacagggaggcaagaggattctctgtcatctctggtgactgagtgtaaaatatgtgccaa       c.*2400

          .         .         .         .         .         .       g.498184
 gtctgcagcacagtgaccaaatctgacaatcgagctctggatcaccacttgattatgtag       c.*2460

          .         .         .         .         .         .       g.498244
 tagactcatttataaagcagcttaggaactaattaaacatggaggatgaattaccttcct       c.*2520

          .         .         .         .         .         .       g.498304
 atcccttgagataagacatctttcagtttcatgattaaggattgttgctgttttatagtt       c.*2580

          .         .         .         .         .         .       g.498364
 actctgttcatcacagtgtaaatggtgatgcgtgtcgtaggtgtgcagctatttgaggga       c.*2640

          .         .         .         .         .         .       g.498424
 ctaagggatggagatattctgtcaaatgaatctcttcagtataccagtttgtgggaggga       c.*2700

          .         .         .         .         .         .       g.498484
 tatgagacatgtggatggcagtgagagatcgtgcctctagatcttgatggaggcttggtg       c.*2760

          .         .         .         .         .         .       g.498544
 agacacacttaaataagcacgtggaggttagaatagagggcagagtaaaaggaagctcca       c.*2820

          .         .         .         .         .         .       g.498604
 tctgagcaagtacaccaaatgatctcagccctgcaacttgacccaggtagggccaccact       c.*2880

          .         .         .         .         .         .       g.498664
 acgccttcacttgtcacccaagctccaaccacagagagtttgacaagtttgtgttatgat       c.*2940

          .         .         .         .         .         .       g.498724
 gttggcttggctttgtatttttaattaactttggatttttagtggttttgtcatataact       c.*3000

          .         .         .         .         .         .       g.498784
 gtctgagtttggtaggtaggattactttgaaaagggtttactagtgtggtcctccgggta       c.*3060

          .         .         .         .         .         .       g.498844
 gaatttagctgtaagcatgttgttagccagcctgtagactgttaattacttaataatctc       c.*3120

          .         .         .         .         .         .       g.498904
 attgggaaaatactagtagttttatatttggatgacataattggaaaagcagattagctg       c.*3180

          .         .         .         .         .         .       g.498964
 ctactacttttaaaagacttaaggtcgggatgcctttttttccatgtaaggaaatgaaaa       c.*3240

          .         .         .         .         .         .       g.499024
 gaccaaaatcttcaggcaaaaagcaagttgcaaaattagaaaccattggctaaaaatgtg       c.*3300

          .         .         .         .         .         .       g.499084
 ttttgttgagtttccaaatggatgaattttcatttggacattacatcactaaattcatta       c.*3360

          .         .         .         .         .         .       g.499144
 gattttgtctgcattggaaagatactcttctagcatatctttcccaaagatatctaattt       c.*3420

          .         .         .         .         .         .       g.499204
 ggattctgtttcatgcaaatttgcatcccggaggttgaagttggagtttgaggttggaaa       c.*3480

          .         .         .         .         .         .       g.499264
 atatctttgaaggcagaatcagttgagttgtgagggtgaagcctcacatacttctcaaca       c.*3540

          .         .         .         .         .         .       g.499324
 gacatgataaaattcacctgcatgagttggcaggtgggagaaccaaactggatcactggg       c.*3600

          .         .         .         .         .         .       g.499384
 taagactactcagtaaagcaatgaactgcttgcttagagaagcatcactatccccattga       c.*3660

          .         .         .         .         .         .       g.499444
 gaaaaatgtgtggcaagatgatacagctacacagtatcaaatgaatgggtcaattcagca       c.*3720

          .         .         .         .         .         .       g.499504
 cccccaaatttaattctgtggggaaaaattattgagccagttgtcagtgttctgttacat       c.*3780

          .         .         .         .         .         .       g.499564
 gactggcagactaaattcttcatcgttgttgttattgttgttgttgtttctcattttcac       c.*3840

          .         .         .         .         .         .       g.499624
 tcgcacggccttattctcataattaaaatctaattcattttctctttagtgttagtagac       c.*3900

          .         .         .         .         .         .       g.499684
 tccaacaacagaagtggcatctgtgtattcataatcagcatttaccctggcaggagacta       c.*3960

          .         .         .         .         .         .       g.499744
 atcagataggccggtctcagacattaatcctaccatctgatatttttggtgaaggaaaaa       c.*4020

          .         .         .         .         .         .       g.499804
 gtattaattctctttccatcctcctcctcagaaatatagaagccctctttaccaaaatca       c.*4080

          .         .         .         .         .         .       g.499864
 tcacattttactctgtaatctaccagctaaaagaaaattgcattgtggggagggcagaaa       c.*4140

          .         .         .         .         .         .       g.499924
 gggggtgggggtgggggcgggggggtggggggtggggaagccccacaaagccagattgca       c.*4200

          .         .         .         .         .         .       g.499984
 gttcttgcccctttttgcgtctgacatgagatgttaaagaattattcatagtgctcacat       c.*4260

          .         .         .         .         .         .       g.500044
 tgggttaggggacactgaactgctttttagatccatgatcagtcatcattcttctaagag       c.*4320

          .         .         .         .         .         .       g.500104
 attggagctttgctgtttcattaactgtgcagtgtagactaatggtgtttaataaaaatc       c.*4380

          .         .         .         .         .         .       g.500164
 attcaaaatttcaaactcttttgccagtgacctcaattttgttggctctgtgatttgtat       c.*4440

          .         .         .         .         .         .       g.500224
 cagactttgaggagggaagggggaagtgaaggaagcctacgtccaggcccctgacaggat       c.*4500

          .         .         .         .         .         .       g.500284
 gctgcagtagcaagctcaagctcgcctgcctgccagcagttgctggtgagcagcagcatg       c.*4560

          .         .         .         .         .         .       g.500344
 cagaccagctgtgggaagcctcctgaagaatgccccagctgatgctttcagctgggaata       c.*4620

          .         .         .         .         .         .       g.500404
 gtttgttcctattggggaactcattgttctccagtctctgcagcaggaagccagctgtca       c.*4680

          .         .         .         .         .         .       g.500464
 tattcggagggaatttcagatgctttacctttttggttttgtcctgcatcactcatgtgg       c.*4740

          .         .         .         .         .         .       g.500524
 ctacgaaagtgtctctgagaatagagcccaatgtggtgacaatgggtagtcaaatgcacc       c.*4800

          .         .         .         .         .         .       g.500584
 ccagatgctcaagccctgttgtggttctgcagtgtttatgaaattgggaggaaggagacc       c.*4860

          .         .         .         .         .         .       g.500644
 ctggacagtaagcaaaattggagacactccaacgaggctaagttaatgccgtgttgccca       c.*4920

          .         .         .         .         .         .       g.500704
 gaacaagatctagcttctcatttggtcagcctagcatgcaaccagtggtgtgctggtaaa       c.*4980

          .         .         .         .         .         .       g.500764
 atgtttaacaaccagctcgctgagaatagaaagcacctggtttgcaccatttgccaattt       c.*5040

          .         .         .         .         .         .       g.500824
 ccatggcataaatactaccactttagatgattttaagctaccaactgtgatgtcactgaa       c.*5100

          .         .         .         .         .         .       g.500884
 cacatggttggaaagagatgcacgcagttggctcttgcaagcctgggcaaaaatgcttca       c.*5160

          .         .         .         .         .         .       g.500944
 acacgccactggatgcagccagtcagagggttcatatttaatatatgtgttcatgtggac       c.*5220

          .         .         .         .         .         .       g.501004
 acacacagacacacacacacaaactcacccttacacacacacttcgatgactaaaacaat       c.*5280

          .         .         .         .         .         .       g.501064
 tacatagttttaagatatgaatcaatgtgtgaatgtagaaagcttatgataaggccctag       c.*5340

          .         .         .         .         .         .       g.501124
 aggtatgggttgccctggaagcctaggttttaagcaggagaatagctgagaagaatgaag       c.*5400

          .         .         .         .         .         .       g.501184
 ccctcctgagctgaaaggagagatggatcaatggagatggttccatcatctccttccata       c.*5460

          .         .         .         .         .         .       g.501244
 tctcacaggtaaaatgggcactcagaaaaccctcacgattgattttttaaaaagataagt       c.*5520

          .         .         .         .         .         .       g.501304
 gagtgttttttattttattattattgtcatcattattttgatttacaaatgctatttgta       c.*5580

          .         .         .         .         .         .       g.501364
 acttttacatgtaactaggataaagtatttacgggaactctatggagaatagcacaatcc       c.*5640

          .         .         .         .         .         .       g.501424
 agaatttactgtgtttttcttttatgtgacgtggaaactcagtaattctcccaccttcac       c.*5700

          .         .         .         .         .         .       g.501484
 attgttgttcataagaattttactttagttattagggaatctaagttttttgttaacatt       c.*5760

          .         .         .         .         .         .       g.501544
 tgtttttagttaaaagtatctacttactgttttagctctgaactcaaaccagaatatctc       c.*5820

          .         .         .         .         .         .       g.501604
 tgtatcaattgcatgactattcagaaacaataatccaaaccaaaataattctttttccac       c.*5880

          .         .         .         .         .         .       g.501664
 ccagtacgaagaaaactaagctcagtaacaagaaggcataaactaaagtatataatgagg       c.*5940

          .         .         .         .         .         .       g.501724
 ctttcattaaatacacacacacacacactcacacacacacacatacactttttaaatttt       c.*6000

          .         .         .         .         .         .       g.501784
 taaattaggcctccacacataaatcattttgaaagtagaatagaaaatctcaaagaattc       c.*6060

          .         .         .         .         .         .       g.501844
 attctcctggtcctgtgcatcttctgcagttaataagaggtttgtatctggaaagatgga       c.*6120

          .         .         .         .         .         .       g.501904
 agaacttgttctaaaatcttatttttcaaaaaaaaatttccattttctctctgggcctgt       c.*6180

          .         .         .         .         .         .       g.501964
 atccatggttgaatgttagccctggaggagatccatgtcttactcgctctttctggccct       c.*6240

          .         .         .         .         .         .       g.502024
 tctgtcttttgcctctgcaattctttttgtagctggcacgatagcagggactgggggtct       c.*6300

          .         .         .         .         .         .       g.502084
 atcctttcatggtattgctacaatatttgtccttactggaaaatggtaacatccgggtct       c.*6360

          .         .         .         .         .         .       g.502144
 gatttaattggcattacacttacacagggactctgagcacccccgtcaccacaccagaca       c.*6420

          .         .         .         .         .         .       g.502204
 gtggaccagttttcacagctacaaagagctagaaatgtgtttaacatcatccagtgcatc       c.*6480

          .         .         .         .         .         .       g.502264
 ccctaattcaaaaccatcctcactaatcaatcatattcacccataaatattacaaatgag       c.*6540

          .         .         .         .         .         .       g.502324
 attgattccatctcaagacaatttgtcaaatacttaattttcttcctggatgattctact       c.*6600

          .         .         .         .         .         .       g.502384
 tactggatattttagaaagagaaatgtctgagataaaatccctcacatttactcaatata       c.*6660

          .         .         .         .         .         .       g.502444
 acaaattactgtttctactcctattctgagtagtgcttctgaagattgtttgctgtagtg       c.*6720

          .         .         .         .         .         .       g.502504
 ttgtctttgataaaatgaatgtcagtagtgagccttttagagataccatgctcagaaatc       c.*6780

          .         .         .         .         .         .       g.502564
 ctctttgggatcagaagatacctaaaattctccccttttgcccacttggttagatgagtg       c.*6840

          .         .         .         .         .         .       g.502624
 atatattctttggatcctgcaaagaagagattggtttattttcttttctggtggtggtag       c.*6900

          .         .         .         .         .         .       g.502684
 tggttgtatctgtggctgtgatggttgttgttacttgtctctctctctctctggctctgg       c.*6960

          .         .         .         .         .         .       g.502744
 cttttgctttcctgctagtgttctttctctttccaaacaaatagttaaattaaatgtgag       c.*7020

          .         .         .         .         .         .       g.502804
 cttctgaattgtacttgttcatactttcaaaacataacagattaataaaaatagatgtgt       c.*7080

          .         .         .         .         .         .       g.502864
 cctgatttaaaacatgccccctggaaaggcatgctgtattatgaaatcgtgataatataa       c.*7140

          .         .         .         .         .         .       g.502924
 ctgcattattacatggcagtataaatattagtctgttgaattcatttgtccaattgtata       c.*7200

          .         .         .         .         .         .       g.502984
 actttgtggagcagtgttttgacctttgatacataattctggagcaagtggagtggttgc       c.*7260

          .         .         .         .         .         .       g.503044
 aggcagatgagacagtgttatatcaggatttttcaatcaactttagttggaggcctggca       c.*7320

          .         .         .         .         .         .       g.503104
 attacaaacatcttcagatgtttctgtaaccattataaatatgaaaaaaacctcttcaaa       c.*7380

          .         .         .         .         .         .       g.503164
 aaatttcccatagtacttcagtcaagactttttaggtttatcttttttttttcatttctc       c.*7440

          .         .         .         .         .         .       g.503224
 cttttccttttccattatttttcgatgggggggttgttatcattgactgaagaaatattt       c.*7500

          .         .         .         .         .         .       g.503284
 tgattgcaatggtctctctctctctccccctctctctctctctcctctattctttcctcc       c.*7560

          .         .         .         .         .         .       g.503344
 ttccctctgtccatcacccctcattaaaatattgaaatctggagtctttgataaatctgc       c.*7620

          .         .         .         .         .         .       g.503404
 attagaccaggctatatgctaggaatgaaatctgggcaaatatcgatgggttttcaaaga       c.*7680

          .         .         .         .         .         .       g.503464
 atgctccatgttcattgggccctttcacaccccacagtgataaatgaaaaggatagaggt       c.*7740

          .         .         .         .         .         .       g.503524
 agttttttcaaaagagcactttaataatatcctctgagacctaatgcagtttaacaaatg       c.*7800

          .         .         .         .         .         .       g.503584
 actccacctatttttccagtaggtaaattgactgagacttgcaaaatacccctgagagtt       c.*7860

          .         .         .         .         .         .       g.503644
 gtcaggggtgtcttctgcctggtctatagcgtgtgtgtttgctttgtatctaacaggcac       c.*7920

          .         .         .         .         .         .       g.503704
 attcacgtctcgtgtactcatatgaagtatttcctaacattcccattagcctgtatataa       c.*7980

          .         .         .         .         .         .       g.503764
 gaatcagaaagataatcccaacatgttgtaaatgaagatgtgactctataacctttctct       c.*8040

          .         .         .         .         .         .       g.503824
 tcttcctggaaaaaaaaggacattttcatgcatattttaaacagaaattttgtatattta       c.*8100

          .         .         .         .         .         .       g.503884
 agtgtcatagaaaatatttattgagtaactgggacacaaatgggaatttaattgtcatca       c.*8160

          .         .         .         .         .         .       g.503944
 tatgctttgtgtgtggggatgcttaccaacaccatgtcgctggaccattgtggcaagcca       c.*8220

          .         .         .         .         .         .       g.504004
 taactgcacaaagagtacacatcgtcagtgtgtgtgtgtgtgtgtgtgtgcgcgcacaca       c.*8280

          .         .         .         .         .         .       g.504064
 cgtgcgtgtgtgtgtccctgcatgtgcaacatgtctagcttgctgtccttcatgggattt       c.*8340

          .         .         .         .         .         .       g.504124
 tagctttcccttcttgaaaaacattattttacagttccaggaggccctggttacattact       c.*8400

          .         .         .         .         .         .       g.504184
 atatgaaggcagtgatttgaaatgaaaattcctttcctcttggaagctttggtcataata       c.*8460

          .         .         .         .         .         .       g.504244
 tcatggttcaattaaacggattccaccggactttgtgatgaaaaaggctctgttaaaatc       c.*8520

          .         .         .         .         .         .       g.504304
 caattgagtttccaagaggaaattgtagtaggtcaagatgcatgagagggaagatggagg       c.*8580

          .         .         .         .         .         .       g.504364
 ccacctcaactggagaacatgagctgagttgagccctcagtgttgaagttgacttgctcc       c.*8640

          .         .         .         .         .         .       g.504424
 aagctgcagtctaaaaccctggggcccgtgcctggcctatgctccctcccaagtaagtag       c.*8700

          .         .         .         .         .         .       g.504484
 aggagcagaaccatcaggaacagcctgcctggctcctatgaagaaaacttcctgacgtcc       c.*8760

          .         .         .         .         .         .       g.504544
 tgtccccaaaggaagaccctttccccaagggcaccccaggtggccattaaattgtgatga       c.*8820

          .         .         .         .         .         .       g.504604
 tcattcagaaagtgcccccttggctttatgagaatccaattagtcttctgaaccaccttt       c.*8880

          .         .         .         .         .         .       g.504664
 tcttgggtgcagatttccaacattcatgctcattgcagatccaccaactgtcactgttct       c.*8940

          .         .         .         .         .         .       g.504724
 taacaagcatgctcgtcttgtcagaatttcagtaagttccaatttcctgtacagaccagg       c.*9000

          .         .         .         .         .         .       g.504784
 gtaaactgttctaaaatcaatcaattaatgaaatgttatctggtttttaaaagctggttt       c.*9060

          .         .         .         .         .         .       g.504844
 catgtgctttatgtgtataaaactatatctgcctgtgtggctttgcatttcaaatgtgtg       c.*9120

          .         .         .         .         .         .       g.504904
 gcgcacaagcgttttgttggtgctttgttctcagtacagtaactctgtgtacaaacattt       c.*9180

          .         .         .         .         .         .       g.504964
 taatgtggttttgttgttttccaacaagatgtctctgtaaaaatgatattggctgagctg       c.*9240

          .         .         .         .         .         .       g.505024
 gtgcgttggtttctctcatagaggcattaactatactgccaatgcattgaattatttaaa       c.*9300

          .         .         .                                     g.505055
 aatgcaaaataaaatttttatgaaaatctca                                    c.*9331

 (downstream sequence)
Legend:
Nucleotide numbering (following the rules of the HGVS for a 'Coding DNA Reference Sequence') is indicated at the right of the sequence, counting the A of the ATG translation initiating Methionine as 1. Every 10th nucleotide is indicated by a "." above the sequence. The AF4/FMR2 family, member 2 protein sequence is shown below the coding DNA sequence, with numbering indicated at the right starting with 1 for the translation initiating Methionine. Every 10th amino acid is shown in bold. The position of introns is indicated by a vertical line, splitting the two exons. The start of the first exon (transcription initiation site) is indicated by a '\', the end of the last exon (poly-A addition site) by a '/'. The exon number is indicated above the first nucleotide(s) of the exon. To aid the description of frame shift variants, all stop codons in the +1 frame are shown in bold while all stop codons in the +2 frame are underlined.

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