SET binding factor 2 (SBF2) - coding DNA reference sequence

(used for variant description)

(last modified December 28, 2017)


This file was created to facilitate the description of sequence variants on transcript NM_030962.3 in the SBF2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008074.1, covering SBF2 transcript NM_030962.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                   .                g.5018
                                           ggttgtcaaacatggctg       c.-121

 .         .         .         .         .         .                g.5078
 aagcgctgccgctgccgctactgccgctgcagggaaaatgctgagccctcccgggccggg       c.-61

 .         .         .         .         .         .                g.5138
 tgggcggcggcggcgagggcggcgacggggacccgcttcccgagcgcggcggcggcggcc       c.-1

          .         .         .         .         .      | 02  .    g.105225
 ATGGCCCGGCTGGCTGACTACTTCATCGTGGTAGGCTATGACCACGAGAAGCCAG | GATCA    c.60
 M  A  R  L  A  D  Y  F  I  V  V  G  Y  D  H  E  K  P  G |   S      p.20

          .         .         .         .         .         .       g.105285
 GGAGAAGGTCTGGGGAAAATAATCCAGAGATTTCCACAGAAGGACTGGGATGATACACCT       c.120
 G  E  G  L  G  K  I  I  Q  R  F  P  Q  K  D  W  D  D  T  P         p.40

          .         .  | 03      .         .         .         .    g.256265
 TTTCCACAGGGAATTGAGTTG | TTTTGTCAGCCTGGCGGGTGGCAGCTGTCCAGAGAGAGG    c.180
 F  P  Q  G  I  E  L   | F  C  Q  P  G  G  W  Q  L  S  R  E  R      p.60

          .         .         .         .         .         .       g.256325
 AAGCAGCCAACGTTCTTTGTGGTTGTCCTGACAGACATTGACTCAGATCGACATTACTGC       c.240
 K  Q  P  T  F  F  V  V  V  L  T  D  I  D  S  D  R  H  Y  C         p.80

          .         .         .          | 04        .         .    g.268058
 TCATGCCTAACCTTCTATGAGGCAGAGATCAATCTTCAG | GGAACAAAGAAGGAAGAGATT    c.300
 S  C  L  T  F  Y  E  A  E  I  N  L  Q   | G  T  K  K  E  E  I      p.100

          .         .         .         .         .         .       g.268118
 GAAGGTGAAGCAAAAGTGTCTGGTTTAATTCAGCCTGCAGAAGTGTTTGCTCCCAAAAGC       c.360
 E  G  E  A  K  V  S  G  L  I  Q  P  A  E  V  F  A  P  K  S         p.120

          .         .         .         .   | 05     .         .    g.269350
 CTGGTGTTGGTATCCAGATTATATTATCCAGAAATTTTTAGG | GCTTGCCTGGGTTTGATC    c.420
 L  V  L  V  S  R  L  Y  Y  P  E  I  F  R   | A  C  L  G  L  I      p.140

          .         .         .         .         .         .       g.269410
 TATACCGTGTATGTGGACAGCCTGAATGTCTCCTTGGAAAGTCTAATTGCAAACCTTTGT       c.480
 Y  T  V  Y  V  D  S  L  N  V  S  L  E  S  L  I  A  N  L  C         p.160

          .         .         .    | 06    .         .         .    g.270677
 GCCTGCCTTGTCCCAGCGGCTGGAGGGTCTCAG | AAGCTGTTTTCTTTGGGTGCAGGAGAT    c.540
 A  C  L  V  P  A  A  G  G  S  Q   | K  L  F  S  L  G  A  G  D      p.180

          .         .         .         .         .         .       g.270737
 AGACAGTTGATCCAGACTCCTTTACATGATAGTCTTCCTATCACGGGCACTAGTGTGGCT       c.600
 R  Q  L  I  Q  T  P  L  H  D  S  L  P  I  T  G  T  S  V  A         p.200

          .          | 07        .         .         .         .    g.296559
 CTCCTGTTCCAGCAATTGG | GAATTCAAAATGTCCTCAGCCTCTTTTGTGCAGTCCTCACA    c.660
 L  L  F  Q  Q  L  G |   I  Q  N  V  L  S  L  F  C  A  V  L  T      p.220

          .         .         .         .         .         .       g.296619
 GAAAATAAGGTTCTCTTCCATTCTGCAAGTTTCCAGAGACTTAGTGATGCTTGTAGAGCC       c.720
 E  N  K  V  L  F  H  S  A  S  F  Q  R  L  S  D  A  C  R  A         p.240

          .         .         .   | 08     .         .         .    g.298213
 CTGGAATCTTTAATGTTTCCTCTTAAATATAG | TTATCCTTATATCCCTATTCTCCCGGCT    c.780
 L  E  S  L  M  F  P  L  K  Y  S  |  Y  P  Y  I  P  I  L  P  A      p.260

          .         .         .         .         .         .       g.298273
 CAGCTACTGGAAGTTCTAAGTTCCCCAACGCCTTTCATTATTGGAGTACATTCTGTCTTT       c.840
 Q  L  L  E  V  L  S  S  P  T  P  F  I  I  G  V  H  S  V  F         p.280

          .         .  | 09      .         .         .         .    g.300867
 AAAACTGATGTCCATGAACTT | TTAGATGTAATCATAGCAGATTTGGATGGAGGCACTATT    c.900
 K  T  D  V  H  E  L   | L  D  V  I  I  A  D  L  D  G  G  T  I      p.300

          .         .         .         .         .         .       g.300927
 AAAATTCCCGAATGTATTCACCTCTCTTCCCTCCCAGAACCACTTCTACATCAGACTCAA       c.960
 K  I  P  E  C  I  H  L  S  S  L  P  E  P  L  L  H  Q  T  Q         p.320

          .      | 10  .         .         .         .         .    g.305254
 TCAGCTCTTTCTTTG | ATTTTACACCCAGATTTGGAAGTAGCAGATCATGCTTTTCCTCCT    c.1020
 S  A  L  S  L   | I  L  H  P  D  L  E  V  A  D  H  A  F  P  P      p.340

          .         .         .    | 11    .         .         .    g.306131
 CCACGAACAGCTTTATCCCACTCAAAAATGCTG | GATAAAGAGGTGCGAGCCGTTTTCCTT    c.1080
 P  R  T  A  L  S  H  S  K  M  L   | D  K  E  V  R  A  V  F  L      p.360

          .         .         .         .         .         .       g.306191
 AGATTATTTGCACAACTCTTCCAAGGATATAGATCCTGCCTGCAACTTATAAGAATTCAT       c.1140
 R  L  F  A  Q  L  F  Q  G  Y  R  S  C  L  Q  L  I  R  I  H         p.380

          .         .        | 12.         .         .         .    g.306697
 GCAGAGCCAGTAATACATTTCCACAAG | ACAGCATTCTTGGGGCAGCGTGGTTTGGTCGAG    c.1200
 A  E  P  V  I  H  F  H  K   | T  A  F  L  G  Q  R  G  L  V  E      p.400

          .         .         .         .         .         .       g.306757
 AATGATTTCCTCACTAAAGTACTCAGTGGAATGGCATTTGCAGGTTTTGTTTCAGAAAGA       c.1260
 N  D  F  L  T  K  V  L  S  G  M  A  F  A  G  F  V  S  E  R         p.420

          .         .         .       | 13 .         .         .    g.309636
 GGTCCTCCTTATAGATCTTGTGATCTCTTTGATGAG | TTGGTAGCCTTTGAAGTAGAGAGA    c.1320
 G  P  P  Y  R  S  C  D  L  F  D  E   | L  V  A  F  E  V  E  R      p.440

          .         .         .         .         .         .       g.309696
 ATTAAAGTTGAAGAAAATAACCCAGTGAAGATGATAAAGCATGTCAGGGAACTTGCTGAG       c.1380
 I  K  V  E  E  N  N  P  V  K  M  I  K  H  V  R  E  L  A  E         p.460

          .      | 14  .         .         .         .         .    g.330707
 CAACTATTCAAAAAT | GAGAATCCAAATCCTCATATGGCATTCCAGAAAGTTCCACGGCCA    c.1440
 Q  L  F  K  N   | E  N  P  N  P  H  M  A  F  Q  K  V  P  R  P      p.480

          .         .         .         .         .         .       g.330767
 ACAGAAGGATCCCATTTGCGAGTTCATATTCTTCCTTTCCCAGAGATTAATGAAGCCCGG       c.1500
 T  E  G  S  H  L  R  V  H  I  L  P  F  P  E  I  N  E  A  R         p.500

          .         .         .         .         .         .       g.330827
 GTTCAGGAATTAATACAGGAAAATGTTGCTAAGAACCAGAATGCACCTCCTGCCACACGA       c.1560
 V  Q  E  L  I  Q  E  N  V  A  K  N  Q  N  A  P  P  A  T  R         p.520

          .         .         .         . | 15       .         .    g.335345
 ATAGAAAAGAAATGTGTTGTGCCAGCAGGTCCACCTGTTG | TTTCGATAATGGACAAGGTG    c.1620
 I  E  K  K  C  V  V  P  A  G  P  P  V  V |   S  I  M  D  K  V      p.540

          .         .         .         .         .         .       g.335405
 ACGACAGTTTTCAACAGTGCACAAAGACTAGAAGTTGTCAGAAACTGTATCTCATTCATA       c.1680
 T  T  V  F  N  S  A  Q  R  L  E  V  V  R  N  C  I  S  F  I         p.560

          .         .         . | 16       .         .         .    g.337131
 TTTGAAAATAAAATTTTGGAAACTGAAAAG | ACCCTTCCTGCTGCACTCAGAGCCCTTAAA    c.1740
 F  E  N  K  I  L  E  T  E  K   | T  L  P  A  A  L  R  A  L  K      p.580

          .         .         .         .         .         .       g.337191
 GGAAAGGCAGCAAGACAGTGTCTCACTGATGAATTGGGTTTGCATGTCCAGCAAAACCGG       c.1800
 G  K  A  A  R  Q  C  L  T  D  E  L  G  L  H  V  Q  Q  N  R         p.600

          .         .         .         .         .         .       g.337251
 GCAATATTAGACCATCAACAGTTTGACTACATAATAAGGATGATGAATTGTACTCTACAG       c.1860
 A  I  L  D  H  Q  Q  F  D  Y  I  I  R  M  M  N  C  T  L  Q         p.620

  | 17       .         .         .         .         .         .    g.403256
  | GATTGTTCAAGTTTAGAAGAATACAACATTGCCGCAGCATTACTCCCTTTGACCAGTGCT    c.1920
  | D  C  S  S  L  E  E  Y  N  I  A  A  A  L  L  P  L  T  S  A      p.640

           | 18        .         .         .         .         .    g.440862
 TTCTATAGG | AAACTTGCCCCTGGAGTCAGCCAGTTTGCTTACACGTGTGTACAAGACCAC    c.1980
 F  Y  R   | K  L  A  P  G  V  S  Q  F  A  Y  T  C  V  Q  D  H      p.660

          .         .         .         .         .         .       g.440922
 CCCATTTGGACAAATCAGCAATTTTGGGAGACAACCTTTTACAATGCAGTGCAGGAACAG       c.2040
 P  I  W  T  N  Q  Q  F  W  E  T  T  F  Y  N  A  V  Q  E  Q         p.680

          .         .         .         .         .         .       g.440982
 GTTCGCTCCCTTTATCTCTCAGCCAAGGAAGACAATCATGCCCCGCATCTGAAGCAAAAG       c.2100
 V  R  S  L  Y  L  S  A  K  E  D  N  H  A  P  H  L  K  Q  K         p.700

  | 19       .         .         .         .         .         .    g.442547
  | GATAAGCTTCCTGATGACCATTATCAGGAGAAGACAGCAATGGACCTGGCAGCTGAGCAA    c.2160
  | D  K  L  P  D  D  H  Y  Q  E  K  T  A  M  D  L  A  A  E  Q      p.720

          .         .         .         .         .         .       g.442607
 CTACGCCTTTGGCCTACCCTGAGCAAGTCAACTCAGCAAGAGCTAGTGCAACATGAGGAA       c.2220
 L  R  L  W  P  T  L  S  K  S  T  Q  Q  E  L  V  Q  H  E  E         p.740

          .         .         .         .         .         .       g.442667
 AGCACTGTCTTTAGTCAGGCCATTCACTTTGCAAACCTCATGGTGAACCTGCTAGTTCCA       c.2280
 S  T  V  F  S  Q  A  I  H  F  A  N  L  M  V  N  L  L  V  P         p.760

          .         .         .         .         .         .       g.442727
 CTCGACACAAGTAAAAACAAGCTCCTAAGAACATCAGCGCCAGGTGACTGGGAGAGCGGA       c.2340
 L  D  T  S  K  N  K  L  L  R  T  S  A  P  G  D  W  E  S  G         p.780

          .         .    | 20    .         .         .         .    g.445532
 AGCAACAGCATTGTCACAAACAG | TATTGCAGGAAGTGTAGCTGAGAGCTATGATACAGAG    c.2400
 S  N  S  I  V  T  N  S  |  I  A  G  S  V  A  E  S  Y  D  T  E      p.800

          .         .         .         .         .         .       g.445592
 AGTGGGTTTGAAGATTCAGAGAATACTGACATTGCCAATTCTGTTGTGCGGTTCATTACC       c.2460
 S  G  F  E  D  S  E  N  T  D  I  A  N  S  V  V  R  F  I  T         p.820

          .         .         .         .         .         .       g.445652
 CGATTTATTGACAAAGTTTGTACAGAGAGTGGAGTTACTCAGGATCACATCAAGAGCCTT       c.2520
 R  F  I  D  K  V  C  T  E  S  G  V  T  Q  D  H  I  K  S  L         p.840

          .       | 21 .         .         .         .         .    g.446502
 CATTGCATGATACCAG | GAATTGTAGCTATGCACATTGAGACCCTAGAAGCAGTACATCGA    c.2580
 H  C  M  I  P  G |   I  V  A  M  H  I  E  T  L  E  A  V  H  R      p.860

          .         .         . | 22       .         .         .    g.449019
 GAAAGCAGAAGACTTCCGCCTATTCAGAAG | CCCAAGATTCTTAGACCTGCTCTGCTGCCA    c.2640
 E  S  R  R  L  P  P  I  Q  K   | P  K  I  L  R  P  A  L  L  P      p.880

          .         .         .         .         .         .       g.449079
 GGAGAAGAAATTGTCTGTGAGGGTCTTCGAGTCTTGCTGGATCCTGATGGAAGAGAAGAA       c.2700
 G  E  E  I  V  C  E  G  L  R  V  L  L  D  P  D  G  R  E  E         p.900

          .         .         .         .         .         .       g.449139
 GCTACTGGAGGTCTTCTTGGAGGCCCTCAGCTCCTGCCAGCAGAAGGAGCCTTGTTCCTC       c.2760
 A  T  G  G  L  L  G  G  P  Q  L  L  P  A  E  G  A  L  F  L         p.920

          .         .         .         .       | 23 .         .    g.452138
 ACCACATACAGAATTCTCTTCAGAGGAACACCCCATGATCAGTTAG | TGGGTGAGCAGACA    c.2820
 T  T  Y  R  I  L  F  R  G  T  P  H  D  Q  L  V |   G  E  Q  T      p.940

          .         .         .         .         .         .       g.452198
 GTTGTGCGGAGCTTTCCCATTGCCTCCATCACCAAGGAGAAGAAGATTACAATGCAGAAC       c.2880
 V  V  R  S  F  P  I  A  S  I  T  K  E  K  K  I  T  M  Q  N         p.960

          .         .         .         .         .     | 24   .    g.453473
 CAGCTACAGCAGAACATGCAAGAAGGACTGCAGATCACATCAGCATCTTTTCAG | TTGATT    c.2940
 Q  L  Q  Q  N  M  Q  E  G  L  Q  I  T  S  A  S  F  Q   | L  I      p.980

          .         .         .         .         .         .       g.453533
 AAGGTAGCATTTGATGAAGAAGTCAGTCCAGAAGTAGTAGAGATCTTTAAGAAACAGCTG       c.3000
 K  V  A  F  D  E  E  V  S  P  E  V  V  E  I  F  K  K  Q  L         p.1000

          .         .         .         .         .         .       g.453593
 ATGAAGTTCCGTTATCCTCAGTCCATTTTCAGTACCTTTGCTTTTGCTGCTGGACAAACT       c.3060
 M  K  F  R  Y  P  Q  S  I  F  S  T  F  A  F  A  A  G  Q  T         p.1020

          .         .         .         .         . | 25       .    g.456447
 ACCCCACAAATAATTTTACCAAAACAGAAGGAAAAGAACACTTCTTTTCG | TACCTTCTCA    c.3120
 T  P  Q  I  I  L  P  K  Q  K  E  K  N  T  S  F  R  |  T  F  S      p.1040

          .         .         .         .         .         .       g.456507
 AAAACAATTGTGAAAGGTGCCAAAAGGGCAGGGAAAATGACAATTGGGCGGCAATATTTA       c.3180
 K  T  I  V  K  G  A  K  R  A  G  K  M  T  I  G  R  Q  Y  L         p.1060

          .         .         .         .         .         .       g.456567
 CTGAAGAAGAAGACAGGGACAATTGTGGAAGAAAGAGTAAATCGTCCTGGATGGAATGAA       c.3240
 L  K  K  K  T  G  T  I  V  E  E  R  V  N  R  P  G  W  N  E         p.1080

          .       | 26 .         .         .         .         .    g.459555
 GATGATGATGTATCTG | TTTCAGATGAGAGTGAGCTCCCCACAAGTACCACCCTGAAGGCC    c.3300
 D  D  D  V  S  V |   S  D  E  S  E  L  P  T  S  T  T  L  K  A      p.1100

          .         .         .         .         .         .       g.459615
 TCCGAGAAGTCTACAATGGAACAGTTGGTGGAAAAAGCTTGTTTCAGAGACTATCAGCGT       c.3360
 S  E  K  S  T  M  E  Q  L  V  E  K  A  C  F  R  D  Y  Q  R         p.1120

          .         .         .         .         .         .       g.459675
 TTAGGTTTAGGAACCATAAGTGGCAGCTCTTCCCGTTCAAGACCCGAGTATTTTAGAATT       c.3420
 L  G  L  G  T  I  S  G  S  S  S  R  S  R  P  E  Y  F  R  I         p.1140

          .         .         .      | 27  .         .         .    g.466812
 ACTGCCTCCAACAGGATGTATTCACTCTGCCGGAG | CTATCCTGGCCTTTTAGTCGTACCT    c.3480
 T  A  S  N  R  M  Y  S  L  C  R  S  |  Y  P  G  L  L  V  V  P      p.1160

          .         .         .         .         .         .       g.466872
 CAAGCTGTACAGGACAGTAGTTTACCAAGAGTAGCTCGCTGCTATCGACACAATCGCCTG       c.3540
 Q  A  V  Q  D  S  S  L  P  R  V  A  R  C  Y  R  H  N  R  L         p.1180

          .         .         .         .         .         .       g.466932
 CCTGTTGTATGTTGGAAGAACTCAAGAAGTGGTACTCTGCTCCTCCGATCTGGAGGATTC       c.3600
 P  V  V  C  W  K  N  S  R  S  G  T  L  L  L  R  S  G  G  F         p.1200

          .         .         .         .         .   | 28     .    g.469719
 CATGGGAAGGGAGTCGTTGGTCTTTTCAAATCTCAGAACTCCCCTCAGGCCG | CTCCTACC    c.3660
 H  G  K  G  V  V  G  L  F  K  S  Q  N  S  P  Q  A  A |   P  T      p.1220

          .         .         .         .         .         .       g.469779
 TCCTCTTTAGAATCTTCCAGTAGCATAGAACAAGAGAAATACTTGCAAGCCTTACTGAAT       c.3720
 S  S  L  E  S  S  S  S  I  E  Q  E  K  Y  L  Q  A  L  L  N         p.1240

          .         .         .         .         .         .       g.469839
 GCTGTTTCTGTCCATCAGAAACTCAGAGGCAACAGCACTCTTACTGTCAGGCCAGCCTTT       c.3780
 A  V  S  V  H  Q  K  L  R  G  N  S  T  L  T  V  R  P  A  F         p.1260

          .    | 29    .         .         .         .         .    g.482230
 GCTCTATCTCCAG | GTGTGTGGGCAAGTCTTCGCTCTAGCACTCGCTTGATCAGCTCTCCA    c.3840
 A  L  S  P  G |   V  W  A  S  L  R  S  S  T  R  L  I  S  S  P      p.1280

          .         .         .         .         .         .       g.482290
 ACATCCTTCATTGATGTTGGCGCCCGGCTGGCAGGCAAGGATCACTCGGCCTCCTTCAGT       c.3900
 T  S  F  I  D  V  G  A  R  L  A  G  K  D  H  S  A  S  F  S         p.1300

          .         .         .         .         .         .       g.482350
 AACAGCAGCTACCTACAAAACCAGCTCTTGAAACGGCAAGCAGCCCTTTACATATTTGGT       c.3960
 N  S  S  Y  L  Q  N  Q  L  L  K  R  Q  A  A  L  Y  I  F  G         p.1320

          .         | 30         .         .         .         .    g.486541
 GAAAAGTCGCAACTAAGG | AACTTCAAGGTAGAATTTGCTTTAAATTGTGAGTTTGTTCCT    c.4020
 E  K  S  Q  L  R   | N  F  K  V  E  F  A  L  N  C  E  F  V  P      p.1340

          .         .         .         .         .         .       g.486601
 GTTGAATTTCATGAAATCCGGCAAGTGAAAGCCAGTTTTAAGAAGCTGATGAGGGCTTGT       c.4080
 V  E  F  H  E  I  R  Q  V  K  A  S  F  K  K  L  M  R  A  C         p.1360

          .         .         .         .         .         .       g.486661
 ATCCCAAGCACCATCCCTACTGACTCAGAAGTGACCTTCCTGAAAGCGCTGGGAGATTCT       c.4140
 I  P  S  T  I  P  T  D  S  E  V  T  F  L  K  A  L  G  D  S         p.1380

          .      | 31  .         .         .         .         .    g.490250
 GAGTGGTTCCCACAG | CTTCACAGGATAATGCAGCTGGCTGTGGTTGTATCAGAAGTACTT    c.4200
 E  W  F  P  Q   | L  H  R  I  M  Q  L  A  V  V  V  S  E  V  L      p.1400

          .         .         .         .         .        | 32.    g.491025
 GAGAATGGTTCCTCAGTTTTGGTCTGTTTGGAGGAAGGCTGGGACATCACTGCACAA | GTG    c.4260
 E  N  G  S  S  V  L  V  C  L  E  E  G  W  D  I  T  A  Q   | V      p.1420

          .         .         .         .         .         .       g.491085
 ACATCCCTGGTTCAGTTACTCAGTGATCCCTTTTATAGGACACTTGAAGGCTTCCAGATG       c.4320
 T  S  L  V  Q  L  L  S  D  P  F  Y  R  T  L  E  G  F  Q  M         p.1440

          .         .         .         .         .         .       g.491145
 TTGGTTGAAAAAGAGTGGCTCTCTTTTGGTCACAAATTCAGTCAGAGGAGCAGCTTGACC       c.4380
 L  V  E  K  E  W  L  S  F  G  H  K  F  S  Q  R  S  S  L  T         p.1460

          .         .         .         .         .         .       g.491205
 CTCAACTGTCAGGGGAGTGGTTTTGCTCCAGTCTTCTTACAGTTCTTAGACTGTGTACAC       c.4440
 L  N  C  Q  G  S  G  F  A  P  V  F  L  Q  F  L  D  C  V  H         p.1480

     | 33    .         .         .         .         .         .    g.503307
 CAG | GTTCACAACCAGTATCCAACTGAGTTTGAATTCAATCTCTATTACTTAAAGTTCTTG    c.4500
 Q   | V  H  N  Q  Y  P  T  E  F  E  F  N  L  Y  Y  L  K  F  L      p.1500

          .         .         .         .         .         .       g.503367
 GCTTTCCACTATGTGTCTAATCGCTTTAAAACATTTCTCCTGGATTCAGACTATGAAAGA       c.4560
 A  F  H  Y  V  S  N  R  F  K  T  F  L  L  D  S  D  Y  E  R         p.1520

          . | 34       .         .         .         .         .    g.508574
 TTAGAGCACG | GAACTTTATTTGATGATAAAGGAGAAAAGCATGCCAAAAAAGGAGTCTGT    c.4620
 L  E  H  G |   T  L  F  D  D  K  G  E  K  H  A  K  K  G  V  C      p.1540

          .         .         .         .         .         .       g.508634
 ATTTGGGAATGTATTGACAGAATGCACAAGAGGAGTCCCATTTTCTTTAATTATTTATAT       c.4680
 I  W  E  C  I  D  R  M  H  K  R  S  P  I  F  F  N  Y  L  Y         p.1560

          .         | 35         .         .         .         .    g.509907
 TCACCATTGGAAATAGAG | GCTCTAAAGCCCAATGTAAACGTCTCTAGCCTCAAGAAGTGG    c.4740
 S  P  L  E  I  E   | A  L  K  P  N  V  N  V  S  S  L  K  K  W      p.1580

          .         .         .         .         .         .       g.509967
 GATTACTACATAGAAGAGACCCTGTCCACAGGCCCTTCCTATGACTGGATGATGCTAACC       c.4800
 D  Y  Y  I  E  E  T  L  S  T  G  P  S  Y  D  W  M  M  L  T         p.1600

          .         .         .         .         .         .       g.510027
 CCCAAGCACTTCCCCTCCGAAGACTCTGACCTGGCTGGAGAAGCTGGGCCACGGAGCCAG       c.4860
 P  K  H  F  P  S  E  D  S  D  L  A  G  E  A  G  P  R  S  Q         p.1620

          .         .         .         .         .         .       g.510087
 AGGAGAACAGTGTGGCCATGCTATGATGATGTCAGCTGTACTCAGCCTGATGCTCTCACC       c.4920
 R  R  T  V  W  P  C  Y  D  D  V  S  C  T  Q  P  D  A  L  T         p.1640

          .   | 36     .         .         .         .         .    g.511517
 AGCCTTTTCAGT | GAAATTGAAAAATTGGAGCACAAATTGAACCAAGCCCCTGAGAAGTGG    c.4980
 S  L  F  S   | E  I  E  K  L  E  H  K  L  N  Q  A  P  E  K  W      p.1660

          .         .         .         .         .        | 37.    g.513892
 CAGCAGCTGTGGGAAAGGGTAACCGTGGACCTTAAAGAAGAACCAAGAACAGATCGC | TCC    c.5040
 Q  Q  L  W  E  R  V  T  V  D  L  K  E  E  P  R  T  D  R   | S      p.1680

          .         .         .         .         .         .       g.513952
 CAAAGACACCTGTCGAGATCCCCAGGAATTGTGTCTACCAACCTACCTTCCTATCAGAAG       c.5100
 Q  R  H  L  S  R  S  P  G  I  V  S  T  N  L  P  S  Y  Q  K         p.1700

          .         .         .         .         .         .       g.514012
 AGGTCTCTGCTACATCTCCCAGACAGCAGCATGGGGGAGGAACAGAATTCCAGCATCTCC       c.5160
 R  S  L  L  H  L  P  D  S  S  M  G  E  E  Q  N  S  S  I  S         p.1720

          .         .         .         .         .         .       g.514072
 CCATCCAATGGAGTGGAGCGAAGAGCAGCCACGCTCTATAGCCAGTATACATCCAAGAAT       c.5220
 P  S  N  G  V  E  R  R  A  A  T  L  Y  S  Q  Y  T  S  K  N         p.1740

          .  | 38      .         .         .         .         .    g.514818
 GATGAAAACAG | GTCCTTTGAGGGAACACTTTATAAAAGAGGGGCTTTGCTGAAAGGTTGG    c.5280
 D  E  N  R  |  S  F  E  G  T  L  Y  K  R  G  A  L  L  K  G  W      p.1760

          .         .         .          | 39        .         .    g.517590
 AAGCCCCGTTGGTTTGTTTTGGATGTAACAAAACATCAG | CTGCGCTACTATGACTCAGGT    c.5340
 K  P  R  W  F  V  L  D  V  T  K  H  Q   | L  R  Y  Y  D  S  G      p.1780

          .         .         .         .         .         .       g.517650
 GAGGACACAAGCTGTAAAGGCCACATTGATCTGGCTGAAGTAGAAATGGTCATCCCTGCT       c.5400
 E  D  T  S  C  K  G  H  I  D  L  A  E  V  E  M  V  I  P  A         p.1800

          .         .         .         .         .  | 40      .    g.518700
 GGCCCCAGCATGGGAGCCCCAAAGCACACAAGTGACAAGGCTTTCTTTGAT | CTCAAGACC    c.5460
 G  P  S  M  G  A  P  K  H  T  S  D  K  A  F  F  D   | L  K  T      p.1820

          .         .         .         .         .         .       g.518760
 AGCAAACGTGTGTATAACTTCTGCGCCCAGGATGGACAGAGTGCCCAGCAATGGATGGAC       c.5520
 S  K  R  V  Y  N  F  C  A  Q  D  G  Q  S  A  Q  Q  W  M  D         p.1840

          .         .         .                                     g.518790
 AAGATCCAGAGTTGTATCTCTGATGCCTGA                                     c.5550
 K  I  Q  S  C  I  S  D  A  X                                       p.1849

          .         .         .         .         .         .       g.518850
 tgcccatggtcaacccacgcagaagaaacagaagaactcatgctgccagatagatagaaa       c.*60

          .         .         .         .         .         .       g.518910
 aagaagcatggatccttgaggagctgacaacaagttatcccagggcctgaggttctcctg       c.*120

          .         .         .         .         .         .       g.518970
 cccagtcccctcttgcaggggttgctatatctacttaacctgaataggtgtttcacacag       c.*180

          .         .         .         .         .         .       g.519030
 gtctggtcaacagccccatgcactccctgtatcttgcactaaatttttctaacagggtct       c.*240

          .         .         .         .         .         .       g.519090
 tagtggttaatgatcagaagatgtctcctgagccaactgtgaacctcacccaggcaaaat       c.*300

          .         .         .         .         .         .       g.519150
 ggctaccacctacttgggtccttcttcatgaaagctatagatccttttttgttctctgag       c.*360

          .         .         .         .         .         .       g.519210
 gtcataatttcctcggagacctgtttaacaagcaaaaatcaaaaccctccaagattgtct       c.*420

          .         .         .         .         .         .       g.519270
 catattctacctggactaggtttcctatgagagacatctacttgtaatgcctgacctttg       c.*480

          .         .         .         .         .         .       g.519330
 agatgctcagttctctggtgctgccaaaagatgcttccatggtccgtgctctgccagtgg       c.*540

          .         .         .         .         .         .       g.519390
 ggttcacaacaagagacgtcattgttcagtagcaggcaaagagggagcacacagcattat       c.*600

          .         .         .         .         .         .       g.519450
 tctgatggaaaaagattatccagggaatggtacaacaatgaccagcccaatgcaggaaaa       c.*660

          .         .         .         .         .         .       g.519510
 cactacttccaaaacactgaattctctagaccagaggtgctctgaggatccagggccttg       c.*720

          .         .         .         .         .         .       g.519570
 tgttcttatgtatcttctgcttcctgacagcttctttttcaaaataacatgcaaaaaaag       c.*780

          .         .         .         .         .         .       g.519630
 ctgaatgcactaactcacaaaacaaacacttgcactgaattcccaatgaagtgaagatgt       c.*840

          .         .         .         .         .         .       g.519690
 tggaaagacagaggccagctatttaggaccatacgcacctgtgacaagggctgtgttgac       c.*900

          .         .         .         .         .         .       g.519750
 cacagtcacactgtggcatgactggatacccaaactacacttctacacatgaaaagtaag       c.*960

          .         .         .         .         .         .       g.519810
 aactgtctttagattttctttactttgataacttgtgattgtttagcttaagacccaaga       c.*1020

          .         .         .         .         .         .       g.519870
 aatgctgtttgctcatggtaaacagaaacagcatcttcgctacaaccactgacaccagct       c.*1080

          .         .         .         .         .         .       g.519930
 ggcgtcataggtagctagatcattgcatttgttttgaaatgttaatatgttaaatactaa       c.*1140

          .         .         .         .         .         .       g.519990
 actaatatttcaaaaatgtgtatatatgatttctatatccttgtttttcagatagcctgc       c.*1200

          .         .         .         .         .         .       g.520050
 ttataatttaatataaattaactgatgcattcataagatttcaataatgaaatggttccc       c.*1260

          .         .         .         .         .         .       g.520110
 ttttaaaaaataaaaatactttgtagattaaaaataaatcagaatttcaaatttaaaatt       c.*1320

          .         .         .         .         .         .       g.520170
 gtccacacactaggaaatagaactgtgttaatatataagaaatctggggataattaagaa       c.*1380

          .         .         .         .         .         .       g.520230
 tgaaggacttttctatcatttccattttataaattgccacctgtgaaaatggtttttgca       c.*1440

          .         .         .         .         .         .       g.520290
 cattatttgtatttttctttgtatatgaaataattttttgtactttgtaaaatatggagc       c.*1500

          .         .         .         .         .         .       g.520350
 ccattgtaccttcagctatttgagactatacacagtgcttcttttgtaactggattactt       c.*1560

          .         .         .         .         .         .       g.520410
 taactttcgtgaaggcattacattgcctcacattcactaaccaccttgaattaaatttat       c.*1620

          .         .         .         .         .         .       g.520470
 ttcttaagaaaaagcatccctcatttactgtgaactaaagttcattctgtagtgcacagc       c.*1680

          .         .         .         .         .         .       g.520530
 attcaggagggtaacactcaggattcatacatgggactaaaggttcaagaataaaacaaa       c.*1740

          .                                                         g.520541
 gcatgacccac                                                        c.*1751

 (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 SET binding factor 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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