basonuclin 2 (BNC2) - coding DNA reference sequence

(used for variant description)

(last modified September 7, 2018)


This file was created to facilitate the description of sequence variants on transcript NM_017637.5 in the BNC2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_051226.1, covering BNC2 transcript NM_017637.5.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.5070
                                         gaggcccggaggaactcgga       c.-121

 .         .         .         .         .         .                g.5130
 gggggagggagagaaaggccgagacggagggagccagcggcggccgaggggctggtccag       c.-61

 .         .         .         .         .         .                g.5190
 gcgcggccgctaagaggagaccaagaggcgggggctgcacttgacaaccagcatgccgag       c.-1

     | 02    .         .         .         .         .         .    g.137410
 ATG | GCACACCTTGGGCCCACCCCACCTCCACATAGCCTTAATTACAAATCAGAGGACAGG    c.60
 M   | A  H  L  G  P  T  P  P  P  H  S  L  N  Y  K  S  E  D  R      p.20

          .         .         .         .         .         .       g.137470
 CTTAGTGAGCAAGACTGGCCAGCATATTTCAAGGTCCCATGTTGTGGGGTTGATACATCT       c.120
 L  S  E  Q  D  W  P  A  Y  F  K  V  P  C  C  G  V  D  T  S         p.40

           | 03        .         .         .         .         .    g.147892
 CAAATTGAG | TCAGAAGAGGCAGAAGTGGATGTGAGAGAAAGAGAGACACAGAGAGACAGA    c.180
 Q  I  E   | S  E  E  A  E  V  D  V  R  E  R  E  T  Q  R  D  R      p.60

          .         .         .         .         .         .       g.147952
 GAGCCAAAGAGGGCAAGAGACTTGACTTTAAGAGACTCCTGTACTGACAACTCCATGCAG       c.240
 E  P  K  R  A  R  D  L  T  L  R  D  S  C  T  D  N  S  M  Q         p.80

          .         .         .         .         .         .       g.148012
 TTCGGAACCAGAACGACTACGGCTGAACCAGGGTTCATGGGGACATGGCAAAACGCTGAT       c.300
 F  G  T  R  T  T  T  A  E  P  G  F  M  G  T  W  Q  N  A  D         p.100

          .         .         . | 04       .         .         .    g.292783
 ACTAACCTCTTATTCAGAATGTCCCAACAG | GCCATCCGTTGCACACTGGTAAACTGCACA    c.360
 T  N  L  L  F  R  M  S  Q  Q   | A  I  R  C  T  L  V  N  C  T      p.120

          .         .         .         .         .         .       g.292843
 TGTGAATGTTTTCAGCCAGGGAAGATTAACCTGAGGACTTGTGATCAGTGTAAACATGGC       c.420
 C  E  C  F  Q  P  G  K  I  N  L  R  T  C  D  Q  C  K  H  G         p.140

          .    | 05    .         .         .         .         .    g.323120
 TGGGTGGCACATG | CCTTGGATAAGCTCAGCACGCAGCACCTGTACCACCCCACCCAAGTG    c.480
 W  V  A  H  A |   L  D  K  L  S  T  Q  H  L  Y  H  P  T  Q  V      p.160

          .         .         .         .         .         .       g.323180
 GAGATTGTGCAGTCCAACGTCGTGTTTGACATCAGCAGCCTGATGCTCTATGGGACACAA       c.540
 E  I  V  Q  S  N  V  V  F  D  I  S  S  L  M  L  Y  G  T  Q         p.180

          .         .         .         .         .         .       g.323240
 GCAGTGCCTGTGCGGCTAAAGATCCTGCTGGACCGTCTCTTCAGCGTCCTGAAGCAAGAG       c.600
 A  V  P  V  R  L  K  I  L  L  D  R  L  F  S  V  L  K  Q  E         p.200

          .         .         .         .         .         .       g.323300
 GAGGTACTGCACATACTGCACGGCCTTGGCTGGACTCTGCGGGACTATGTCCGAGGATAC       c.660
 E  V  L  H  I  L  H  G  L  G  W  T  L  R  D  Y  V  R  G  Y         p.220

           | 06        .         .         .         .         .    g.438365
 ATCCTTCAG | GATGCTGCTGGCAAGGTGCTGGACCGCTGGGCCATCATGTCTCGAGAAGAG    c.720
 I  L  Q   | D  A  A  G  K  V  L  D  R  W  A  I  M  S  R  E  E      p.240

          .         .         .         .         .         .       g.438425
 GAAATCATCACCCTTCAGCAGTTTCTGCGGTTTGGAGAAACCAAATCCATTGTGGAGCTG       c.780
 E  I  I  T  L  Q  Q  F  L  R  F  G  E  T  K  S  I  V  E  L         p.260

          .         .         .         .         .         .       g.438485
 ATGGCAATTCAGGAGAAAGAAGGGCAGGCCGTGGCTGTACCATCTTCAAAGACAGACTCA       c.840
 M  A  I  Q  E  K  E  G  Q  A  V  A  V  P  S  S  K  T  D  S         p.280

          .         .         .         .         .         .       g.438545
 GATATAAGGACTTTCATTGAGAGCAATAATCGCACCAGGAGTCCCAGCCTCCTTGCTCAC       c.900
 D  I  R  T  F  I  E  S  N  N  R  T  R  S  P  S  L  L  A  H         p.300

          .         .         .         .         .         .       g.438605
 TTAGAGAACAGCAATCCTTCCAGCATTCATCACTTCGAAAACATCCCAAACAGCCTTGCA       c.960
 L  E  N  S  N  P  S  S  I  H  H  F  E  N  I  P  N  S  L  A         p.320

          .         .         .         .         .         .       g.438665
 TTTCTGCTTCCATTCCAGTACATAAACCCTGTCTCAGCACCACTGCTAGGGTTGCCTCCA       c.1020
 F  L  L  P  F  Q  Y  I  N  P  V  S  A  P  L  L  G  L  P  P         p.340

          .         .         .         .         .         .       g.438725
 AATGGGCTACTGTTAGAGCAACCAGGGTTGAGGCTGCGGGAACCCAGCCTTTCAACTCAG       c.1080
 N  G  L  L  L  E  Q  P  G  L  R  L  R  E  P  S  L  S  T  Q         p.360

          .         .         .         .         .         .       g.438785
 AATGAATATAATGAGAGCAGCGAATCCGAAGTTTCTCCCACACCTTATAAGAATGATCAA       c.1140
 N  E  Y  N  E  S  S  E  S  E  V  S  P  T  P  Y  K  N  D  Q         p.380

          .         .         .         .         .         .       g.438845
 ACACCCAATAGAAATGCCCTGACCAGCATTACTAATGTGGAGCCCAAAACCGAGCCAGCC       c.1200
 T  P  N  R  N  A  L  T  S  I  T  N  V  E  P  K  T  E  P  A         p.400

          .         .         .         .         .         .       g.438905
 TGTGTCTCTCCCATTCAGAATTCTGCCCCAGTCAGTGATCTAACCAAAACTGAACACCCA       c.1260
 C  V  S  P  I  Q  N  S  A  P  V  S  D  L  T  K  T  E  H  P         p.420

          .         .         .         .         .         .       g.438965
 AAAAGCTCATTCCGGATTCATCGGATGAGAAGGATGGGGTCAGCCTCTAGGAAAGGAAGA       c.1320
 K  S  S  F  R  I  H  R  M  R  R  M  G  S  A  S  R  K  G  R         p.440

          .         .         .         .         .         .       g.439025
 GTGTTCTGTAATGCATGTGGGAAGACATTCTATGACAAAGGTACTCTCAAAATTCATTAC       c.1380
 V  F  C  N  A  C  G  K  T  F  Y  D  K  G  T  L  K  I  H  Y         p.460

          .         .         .         .         .         .       g.439085
 AATGCTGTTCACCTGAAGATCAAACATCGATGCACCATTGAAGGTTGCAACATGGTCTTT       c.1440
 N  A  V  H  L  K  I  K  H  R  C  T  I  E  G  C  N  M  V  F         p.480

          .         .         .         .         .         .       g.439145
 AGCTCCCTCCGAAGTCGTAATCGCCACAGTGCAAACCCCAATCCTCGCCTTCACATGCCT       c.1500
 S  S  L  R  S  R  N  R  H  S  A  N  P  N  P  R  L  H  M  P         p.500

          .         .         .         .         .         .       g.439205
 ATGCTAAGGAATAACCGAGATAAAGATTTAATTCGGGCCACCTCAGGAGCTGCCACCCCT       c.1560
 M  L  R  N  N  R  D  K  D  L  I  R  A  T  S  G  A  A  T  P         p.520

          .         .         .         .         .         .       g.439265
 GTCATAGCAAGTACAAAATCAAATCTGGCACTCACAAGCCCTGGCCGACCCCCAATGGGT       c.1620
 V  I  A  S  T  K  S  N  L  A  L  T  S  P  G  R  P  P  M  G         p.540

          .         .         .         .         .         .       g.439325
 TTTACCACTCCCCCTCTAGACCCTGTCTTGCAAAATCCTCTCCCTAGCCAGCTAGTATTT       c.1680
 F  T  T  P  P  L  D  P  V  L  Q  N  P  L  P  S  Q  L  V  F         p.560

          .         .         .         .         .         .       g.439385
 TCTGGGCTAAAGACTGTACAACCAGTTCCTCCATTTTATAGAAGTTTACTCACTCCAGGG       c.1740
 S  G  L  K  T  V  Q  P  V  P  P  F  Y  R  S  L  L  T  P  G         p.580

          .         .         .         .         .         .       g.439445
 GAAATGGTGAGTCCTCCAACCTCCCTCCCAACCAGTCCCATCATTCCAACCAGTGGTACC       c.1800
 E  M  V  S  P  P  T  S  L  P  T  S  P  I  I  P  T  S  G  T         p.600

          .         .         .         .         .         .       g.439505
 ATAGAGCAGCACCCCCCGCCACCCTCTGAGCCAGTAGTGCCAGCAGTGATGATGGCCACC       c.1860
 I  E  Q  H  P  P  P  P  S  E  P  V  V  P  A  V  M  M  A  T         p.620

          .         .         .         .         .         .       g.439565
 CATGAGCCCAGTGCTGACCTGGCACCCAAGAAAAAGCCCAGGAAGTCAAGCATGCCTGTG       c.1920
 H  E  P  S  A  D  L  A  P  K  K  K  P  R  K  S  S  M  P  V         p.640

          .         .         .         .         .         .       g.439625
 AAGATTGAGAAGGAAATTATTGATACCGCCGATGAGTTTGATGATGAAGATGATGACCCC       c.1980
 K  I  E  K  E  I  I  D  T  A  D  E  F  D  D  E  D  D  D  P         p.660

          .         .         .         .         .         .       g.439685
 AATGATGGTGGAGCTGTGGTCAATGACATGAGCCATGACAATCATTGTCACTCCCAAGAG       c.2040
 N  D  G  G  A  V  V  N  D  M  S  H  D  N  H  C  H  S  Q  E         p.680

          .         .         .         .         .         .       g.439745
 GAGATGAGCCCAGGCATGTCTGTGAAGGACTTTTCTAAGCATAACAGGACCCGGTGCATT       c.2100
 E  M  S  P  G  M  S  V  K  D  F  S  K  H  N  R  T  R  C  I         p.700

          .         .         .         .         .         .       g.439805
 TCAAGGACTGAAATAAGGAGGGCCGACAGCATGACTTCTGAAGACCAAGAACCTGAGCGG       c.2160
 S  R  T  E  I  R  R  A  D  S  M  T  S  E  D  Q  E  P  E  R         p.720

          .         .         .         .         .         .       g.439865
 GACTATGAGAACGAGTCTGAGTCTTCGGAGCCCAAACTGGGCGAGGAATCCATGGAAGGG       c.2220
 D  Y  E  N  E  S  E  S  S  E  P  K  L  G  E  E  S  M  E  G         p.740

          .         .         .         .         .         .       g.439925
 GATGAGCACATTCACAGCGAAGTGAGTGAAAAAGTCCTGATGAATAGTGAGAGGCCTGAT       c.2280
 D  E  H  I  H  S  E  V  S  E  K  V  L  M  N  S  E  R  P  D         p.760

          .         .         .         .         .         .       g.439985
 GAGAACCACAGTGAGCCCTCTCACCAGGACGTCATCAAGGTGAAGGAAGAATTTACAGAC       c.2340
 E  N  H  S  E  P  S  H  Q  D  V  I  K  V  K  E  E  F  T  D         p.780

          .         .         .         .         .         .       g.440045
 CCCACTTACGACATGTTTTACATGAGCCAGTATGGACTGTACAATGGTGGGGGTGCCAGC       c.2400
 P  T  Y  D  M  F  Y  M  S  Q  Y  G  L  Y  N  G  G  G  A  S         p.800

          .         .         .         .         .         .       g.440105
 ATGGCCGCCTTGCATGAGAGCTTTACATCGTCTCTGAATTATGGCAGCCCTCAAAAGTTC       c.2460
 M  A  A  L  H  E  S  F  T  S  S  L  N  Y  G  S  P  Q  K  F         p.820

          .         .         .         .         .         .       g.440165
 TCCCCAGAAGGTGACCTATGTTCTAGCCCAGACCCCAAAATCTGTTATGTGTGCAAGAAG       c.2520
 S  P  E  G  D  L  C  S  S  P  D  P  K  I  C  Y  V  C  K  K         p.840

          .         .         .         .         .         .       g.440225
 AGTTTCAAAAGCTCCTACAGTGTGAAACTTCACTACAGGAACGTTCACTTGAAAGAGATG       c.2580
 S  F  K  S  S  Y  S  V  K  L  H  Y  R  N  V  H  L  K  E  M         p.860

          .         .         .         .         .          | 07    g.456190
 CACGTCTGCACAGTGGCTGGTTGCAATGCTGCATTCCCCTCTCGCCGAAGCCGAGACAG | A    c.2640
 H  V  C  T  V  A  G  C  N  A  A  F  P  S  R  R  S  R  D  R  |      p.880

          .         .         .         .         .         .       g.456250
 CACAGTGCCAACATAAACCTACATCGTAAACTGTTGACCAAAGAACTCGATGACATGGGC       c.2700
 H  S  A  N  I  N  L  H  R  K  L  L  T  K  E  L  D  D  M  G         p.900

          .         .         .         .         .         .       g.456310
 CTGGACTCGTCGCAGCCCTCCCTTAGCAAGGACCTCCGCGATGAATTTTTGGTGAAGATA       c.2760
 L  D  S  S  Q  P  S  L  S  K  D  L  R  D  E  F  L  V  K  I         p.920

          .         .         .         .         .         .       g.456370
 TATGGTGCCCAGCACCCCATGGGGCTCGATGTCAGGGAAGACGCCTCCTCTCCCGCAGGG       c.2820
 Y  G  A  Q  H  P  M  G  L  D  V  R  E  D  A  S  S  P  A  G         p.940

          .         .         .         .         .         .       g.456430
 ACTGAAGACTCCCACCTGAACGGGTATGGGAGAGGCATGGCAGAGGACTACATGGTCCTT       c.2880
 T  E  D  S  H  L  N  G  Y  G  R  G  M  A  E  D  Y  M  V  L         p.960

          .         .         .         .         .         .       g.456490
 GACTTGAGCACCACCTCCAGCCTCCAGTCCAGCAGCAGTATCCATTCCTCCAGAGAATCC       c.2940
 D  L  S  T  T  S  S  L  Q  S  S  S  S  I  H  S  S  R  E  S         p.980

          .         .         .         .         .         .       g.456550
 GACGCAGGCAGCGATGAGGGGATTCTTCTCGATGACATTGACGGGGCGAGTGACAGTGGG       c.3000
 D  A  G  S  D  E  G  I  L  L  D  D  I  D  G  A  S  D  S  G         p.1000

          .         .         .         .         .         .       g.456610
 GAGTCGGCACACAAGGCCGAGGCCCCTGCCCTCCCTGGCAGCCTAGGGGCTGAAGTTTCA       c.3060
 E  S  A  H  K  A  E  A  P  A  L  P  G  S  L  G  A  E  V  S         p.1020

          .         .         .         .         .         .       g.456670
 GGATCTCTTATGTTCAGCAGCTTGTCTGGGAGCAATGGTGGGATCATGTGCAACATTTGC       c.3120
 G  S  L  M  F  S  S  L  S  G  S  N  G  G  I  M  C  N  I  C         p.1040

          .         .         .         .         .         .       g.456730
 CACAAAATGTACAGCAACAAGGGGACCCTGAGAGTGCACTACAAAACTGTGCATTTGAGA       c.3180
 H  K  M  Y  S  N  K  G  T  L  R  V  H  Y  K  T  V  H  L  R         p.1060

          .         .         .         .         .         .       g.456790
 GAAATGCACAAGTGCAAAGTCCCAGGTTGCAATATGATGTTTTCCTCTGTACGAAGCCGA       c.3240
 E  M  H  K  C  K  V  P  G  C  N  M  M  F  S  S  V  R  S  R         p.1080

          .         .         .         .         .         .       g.456850
 AATCGGCACAGTCAGAACCCTAATCTCCACAAAAACATTCCCTTCACTTCAGTAGATTAG       c.3300
 N  R  H  S  Q  N  P  N  L  H  K  N  I  P  F  T  S  V  D  X         p.1099

          .         .         .         .         .         .       g.456910
 tctcagaatggacactacaaatgccagctctcaccagatggcctacgtgtttgaactgcc       c.*60

          .         .         .         .         .         .       g.456970
 atagtcagtgtgcgcttatgtacttggggtgtgtgtgtgtgtgtgtgtgtgtgtgcattt       c.*120

          .         .         .         .         .         .       g.457030
 atgtatgctctgtggctacatatacacacacgtatttccttgagataaacaagataaaca       c.*180

          .         .         .         .         .         .       g.457090
 ctaggtgcttttgaatttttttcacttccctttatagttttgggaaaggagtgggatctt       c.*240

          .         .         .         .         .         .       g.457150
 tgatttcagggtgaaaacagagtacccctttaaacacacacacacacacatgcacataca       c.*300

          .         .         .         .         .         .       g.457210
 cacacacacacacacacacacacagtgtgcaactagccccagttttgacagaataattct       c.*360

          .         .         .         .         .         .       g.457270
 tggtcttccccaaagagacaatttgttgtacccatgactgttgcctgcaaaaataaaagg       c.*420

          .         .         .         .         .         .       g.457330
 gaaaaaaaagaaaaaagaaacaaaaaggaacttcttatagttgtcttttgtgaactttaa       c.*480

          .         .         .         .         .         .       g.457390
 ggttttgaaagaatcttcaattaaagcatggcagattcacctgtaaatatttagccttga       c.*540

          .         .         .         .         .         .       g.457450
 ggggccattgatgtaaaacaattgtattgatggttgtttaacttttttgtttaattttta       c.*600

          .         .         .         .         .         .       g.457510
 cagttacatccagctgttagatatgcaggaaaagatagtttgctggctagctctattcat       c.*660

          .         .         .         .         .         .       g.457570
 ttatgttagcattaatgcacatttttaaaaaaagaaaaaaacatggtcttgtttttacta       c.*720

          .         .         .         .         .         .       g.457630
 cctgttagatatagtgctaaagaggtgctggcatgctttacagcacagatctgatttttt       c.*780

          .         .         .         .         .         .       g.457690
 aaaatgtcctgtactagtacataaatcccgtcatgcactttttttcatacactacaaggg       c.*840

          .         .         .         .         .         .       g.457750
 gatgtgtaataaccatgcttcttttttatccttaaactattgccatacttcagtaagtgt       c.*900

          .         .         .         .         .         .       g.457810
 cttttttaaaaaaaattcacttgtataaaaatggtctggtcagtatagggcacaaatgcc       c.*960

          .         .         .         .         .         .       g.457870
 aaacaaagtattagtgttaacacaaaactgccaactttgcacaagtttccagaaaagaaa       c.*1020

          .         .         .         .         .         .       g.457930
 atacaattagtcactcaacataaccacaggccaatttgttggccaccagaaaaccgcttt       c.*1080

          .         .         .         .         .         .       g.457990
 ttaaaaaaacacttggtgattctttcaagtgccgaatgttattagaatcaacattgcatc       c.*1140

          .         .         .         .         .         .       g.458050
 cttcttgcttatacgttaagttacataaaaggaaaacaaaattatgtggtgtgaaacagc       c.*1200

          .         .         .         .         .         .       g.458110
 caaggcatttattcttcagaggcaggataatatttcaggatacaaaagcccaaattaccc       c.*1260

          .         .         .         .         .         .       g.458170
 gctacggaacaaagatgaatacagtaaaagagtcgaacactcatttccaaggccctaacc       c.*1320

          .         .         .         .         .         .       g.458230
 cttatcctttaaaaagaaatcctctgaactgggtcggtctgttgtatggctgtctaattt       c.*1380

          .         .         .         .         .         .       g.458290
 gttgcaaattctgcagtcgtactataattcaggcctgtttggtagacaaaatcaaaaggc       c.*1440

          .         .         .         .         .         .       g.458350
 atttaacagcagcagtacttggaagctttgaaaacatgtgctaaacttgaatggagcaac       c.*1500

          .         .         .         .         .         .       g.458410
 actcctttctgaaaagccagaagaagggggttttaaagcaggatctctcaatgttcagtg       c.*1560

          .         .         .         .         .         .       g.458470
 ttttgtgtttccccacacgatttgtcagagagaaatgaaagcaagcctgaaaccaagcaa       c.*1620

          .         .         .         .         .         .       g.458530
 ttgagagtgagaaagaggagagagactattctccaaaccttttttgttttgttttgtttc       c.*1680

          .         .         .         .         .         .       g.458590
 cgatgtttacacatgttgcctgagctggttaaccacatcggcagcctcagctaccacaac       c.*1740

          .         .         .         .         .         .       g.458650
 atactgactaaatgatgatatttactcaagttcagtctgcagccaaaaccattagggtgt       c.*1800

          .         .         .         .         .         .       g.458710
 gcattgcagactgttttgttgtcttttttttttcttttttcctttttttttaagtggagg       c.*1860

          .         .         .         .         .         .       g.458770
 ggaaaagaagagataaacaaggaatattttgtcaaacagtacacaataatttaaagagaa       c.*1920

          .         .         .         .         .         .       g.458830
 tgtatttcttttttgcatttaatggcctcagacatttctttcatcagtctaaaagttaga       c.*1980

          .         .         .         .         .         .       g.458890
 aatatccctttattttaacttttatgtcgtttccatttttcatgtttttgtaattatttt       c.*2040

          .         .         .         .         .         .       g.458950
 ttctatgttcacatcagcattcacttccgttaaatttgccaaaggaaactgttaatatgt       c.*2100

          .         .         .         .         .         .       g.459010
 ttctgttgttattattcctgtaggatttattgtacctcacagtatttattgtttcccaaa       c.*2160

          .         .         .         .         .         .       g.459070
 ataagcatcattagttggggattcagtatttttgttgtgaaaatttcagaaacaatagat       c.*2220

          .         .         .         .         .         .       g.459130
 tcttaaagataagctagctatgtctaggagctttatcttttcacctccttcagaggatgc       c.*2280

          .         .         .         .         .         .       g.459190
 tatggggtccattttaattcttcatttgttctacggggaggaaagaccaaaagtatttgc       c.*2340

          .         .         .         .         .         .       g.459250
 agtacaaaagaaactatatcaaacactatgttaaatgacaagtgtttatggtaaaaagct       c.*2400

          .         .         .         .         .         .       g.459310
 gaggaattagtaataatcgtttttgttttcttgtactttgaattccccaaagtcttaatt       c.*2460

          .         .         .         .         .         .       g.459370
 gctttattttggtgttgtgttaaattgaacagacagatgttttcctttgttttataccat       c.*2520

          .         .         .         .         .         .       g.459430
 ataagactctgtacagtatgtttgtgaaagattgaactagaataatgaaagtttgtttgc       c.*2580

          .         .         .         .         .         .       g.459490
 aaacattttggtcctctcagcgttctctgtgttgtgctgttgccccattaccaaatggtt       c.*2640

          .         .         .         .         .         .       g.459550
 agattcaaaaagggtgggaaaagatttttaatatcccaacaaaacattatagaaactctg       c.*2700

          .         .         .         .         .         .       g.459610
 gcttttgcagtgtgcatagactacatgtagttttatgaaaataaatacacatttttattt       c.*2760

          .         .         .         .         .         .       g.459670
 cagcaactttgaaaagttacactcagttgagttactagaactcatcttgtacaacagcaa       c.*2820

          .         .         .         .         .         .       g.459730
 tgtttagtctgtttaatttaatgtcaaataaaaggtcagatagccctcgtgagtgaatta       c.*2880

          .         .         .         .         .         .       g.459790
 catagctgtcggcagtcacatcagcaaatgcaccaggcttagaacaaatgtttgttactt       c.*2940

          .         .         .         .         .         .       g.459850
 gctgcaaaccaagctaatgtgtatagccagttagaaaaagtccagaagtaatgagattct       c.*3000

          .         .         .         .         .         .       g.459910
 agaagtagagtttcccttgcttggaaacatgaatgtgttcacctgtgttttgtcagagaa       c.*3060

          .         .         .         .         .         .       g.459970
 gtggcaataagtcctggacagctgacactttttaagtatctcccctatttgctactactt       c.*3120

          .         .         .         .         .         .       g.460030
 ttgtgcctcaagtgcccagtcgttacggtggccttctaaatgagtaaataacattttcca       c.*3180

          .         .         .         .         .         .       g.460090
 atataaagcctatttgcttaaaagggacaggggagtggatggatgtagtacatgcaatgg       c.*3240

          .         .         .         .         .         .       g.460150
 aaaatcataaaatgtacaattcttctgtttccaaagtattgctcgttcttgagtgtgtgc       c.*3300

          .         .         .         .         .         .       g.460210
 ctgagtgtcttgttttgacttaactagaattctagttaagatggtgatcccatggcttat       c.*3360

          .         .         .         .         .         .       g.460270
 ttgcaaacaggaaggataaagagatcagcgttttagtcatggagctcatctttgcccatt       c.*3420

          .         .         .         .         .         .       g.460330
 cctactcatttgctttttcataggagttttttgttgttaaacagtttctctcaagccaca       c.*3480

          .         .         .         .         .         .       g.460390
 tgcattctatgctggctgaaaattaatagtgatgtagatgttcatccgacaagcttttcc       c.*3540

          .         .         .         .         .         .       g.460450
 ccatgtgattggttttagccagagtttatcacaggtacaaaattaggcggtatgactgtg       c.*3600

          .         .         .         .         .         .       g.460510
 catgttctctagctgatgttgaaacttgtactgtcttgatcatttaaaactatgtttttg       c.*3660

          .         .         .         .         .         .       g.460570
 taaatatcaggtttagtccgctttcgggaatatctgcatgctatggaaagagagaaaaaa       c.*3720

          .         .         .         .         .         .       g.460630
 aggatagataatgaggaatttggtttaaaagtgtgataaaaatccttggcattctttgtt       c.*3780

          .         .         .         .         .         .       g.460690
 ctgatattaattgtatttaaataagtcaacccaatgtaactcattccagatcttagtcca       c.*3840

          .         .         .         .         .         .       g.460750
 gctgccctgttcagcctgatgccttttaaaggtttaaaggtgttaatgttttccttttca       c.*3900

          .         .         .         .         .         .       g.460810
 acatggcaaacattttttaaaacctttttggcacaatggtgccactgtcctcatagtgtt       c.*3960

          .         .         .         .         .         .       g.460870
 atttctttggtcatgaattttcaggcccttccagtaagaggagaaaggcacttaactggt       c.*4020

          .         .         .         .         .         .       g.460930
 taacagccccattattatacattgctctaaggaaaaaaaaaaaaaaaaaactttgaatat       c.*4080

          .         .         .         .         .         .       g.460990
 atcaagaatgggctattccagaggcttctcctcaggagaaactatgcactaggttcccac       c.*4140

          .         .         .         .         .         .       g.461050
 caaatacaatgtgacctttttttcccctttctctgtacacaccccagatatgtgccaagc       c.*4200

          .         .         .         .         .         .       g.461110
 aaatgagaatgagggccgttgacaattaaagcataaagaagctagtcaccagattgagat       c.*4260

          .         .         .         .         .         .       g.461170
 ggacatgctgctaactgctgacagcttgacctgagcagtcctaacttgtatctggtctgt       c.*4320

          .         .         .         .         .         .       g.461230
 tagcattgggttagattgactaacagagtaaataaaattcacctgtcataagacacgcta       c.*4380

          .         .         .         .         .         .       g.461290
 catctgctatcatcaagaaacaaatcatccagaagaaactttttttcatcctgtggtcac       c.*4440

          .         .         .         .         .         .       g.461350
 acccttttcttaagagcttcttttttaaaattatgacaaacgaatttcattctttaaaat       c.*4500

          .         .         .         .         .         .       g.461410
 cacttatcttctcccaaacttgaagtatttaaattaggtggttttgcttttccctctcat       c.*4560

          .         .         .         .         .         .       g.461470
 tgtttattttttggggatggatctaaatgagtaagatgagcaataaaagataccagaaag       c.*4620

          .         .         .         .         .         .       g.461530
 actggagggatcacagtgttttcatcagaactaagtagagggtcggttcctgccctggtt       c.*4680

          .         .         .         .         .         .       g.461590
 ttggggtagctagaaaaggaaatcatgaatgcactggaaatgttggctcgagagaaaaga       c.*4740

          .         .         .         .         .         .       g.461650
 ctggcatagctctgcctcgcagtgggtgagagcgtattgatcgtagggacctgcagagtt       c.*4800

          .         .         .         .         .         .       g.461710
 cctatgaccaggtgagtcggctctgaggaaggggttaggaaagcaagtacagctgcatga       c.*4860

          .         .         .         .         .         .       g.461770
 aatagctgaagttcctttggggtcaggaagagccgacaattgtggggttttggttgcttt       c.*4920

          .         .         .         .         .         .       g.461830
 tgctttgtttttgagtgggaagtgttgctggaatcccctgagaaccgaaagatgccaggg       c.*4980

          .         .         .         .         .         .       g.461890
 gtcagcaaggctatagaaaaggccagtggtaacacctcgttttcatcctaacagaggagt       c.*5040

          .         .         .         .         .         .       g.461950
 aggtgcgaatggcaccagcatggatcgttcctttcttgatcattactcatgcttgccact       c.*5100

          .         .         .         .         .         .       g.462010
 gtagcaacacaacaaagccatgattgtaattaatactaggctaaagaccttgatcaaaat       c.*5160

          .         .         .         .         .         .       g.462070
 gggagctcatttactgttctatgaggtatgtaagtaacttctcttcacattttccctcag       c.*5220

          .         .         .         .         .         .       g.462130
 agataaaccacacgtggtagtcttgtttgcgttagtactaaggtcatgtttgatctgtcc       c.*5280

          .         .         .         .         .         .       g.462190
 cagacgagtcgcatatttcctgtagctggagtgttgctcaccataaatggtcattttcaa       c.*5340

          .         .         .         .         .         .       g.462250
 aaagtattgtgtaattccagctgtacaactgaccagtgagttatctgtcatcactgttgc       c.*5400

          .         .         .         .         .         .       g.462310
 ccacatacccgtccttccttgtgtagtttcatcatcctcatccttcccacatcttgcgca       c.*5460

          .         .         .         .         .         .       g.462370
 aaatgattttctgtgctcattcggcaataactatgttattcggcatactgtctttttggc       c.*5520

          .         .         .         .         .         .       g.462430
 atttgttgaaaaatccaaatgcttttaatccaaaagattaatccaaatcttttttaatcc       c.*5580

          .         .         .         .         .         .       g.462490
 aaatgattttaatccaaatccaaataacaggaggttaaaaaaaaaaaaaaaactaagcat       c.*5640

          .         .         .         .         .         .       g.462550
 ttttacatgtacactgaattggatcagcattattgttcattataatgctatatatatttt       c.*5700

          .         .         .         .         .         .       g.462610
 tggagcaacatactatagttgtcataaaactatctttattcttctcctctaaagtgctgt       c.*5760

          .         .         .         .         .         .       g.462670
 tgtaaattcatttgacctttactgcaggaaaaaaaaaaatcttttttatataggatatga       c.*5820

          .         .         .         .         .         .       g.462730
 agaccaaggctcagtctgtaacaaatagtggaccattacaaaagaggaaagaaaaaagcc       c.*5880

          .         .         .         .         .         .       g.462790
 agggctgagcagcaagaagcttcagttcaatttcacctcgtatctttctaataacatact       c.*5940

          .         .         .         .         .         .       g.462850
 tgtcactttattaccttccagtaatgtgaacgctgctgacaagactgtcacactaacagc       c.*6000

          .         .         .         .         .         .       g.462910
 agacaacaccctctctgcttcagcccagctctcctggctacttattgccctggccctgaa       c.*6060

          .         .         .         .         .         .       g.462970
 gggacacaaactaatagtgtgctttccagttcagcacttggccatcaaatataaaaggat       c.*6120

          .         .         .         .         .         .       g.463030
 gcgtaattgcctgtttatccccttgtgaaggagaaattgactacaagggctaggctttcc       c.*6180

          .         .         .         .         .         .       g.463090
 catcgagttccctgatgtacacacacatccacaatcagtcagtctctctctctctctctc       c.*6240

          .         .         .         .         .         .       g.463150
 tctctctctctctctctctctctctctcccctctctctctccttccctcttattctcccc       c.*6300

          .         .         .         .         .         .       g.463210
 tcctaacatacaagcacatacacacacctactgtatctgtgggaagcccaaggctgcctc       c.*6360

          .         .         .         .         .         .       g.463270
 tcgatgccctctccagctattaagtggacagtaacaagatgacttcttaaataaagggtc       c.*6420

          .         .         .         .         .         .       g.463330
 agtagagagatgctgtctgtgacggcatcctttgcttctttgaaaacttaagtgttaaca       c.*6480

          .         .         .         .         .         .       g.463390
 attccatcttgagagtaatgggtgtggccctataattagagcaaattttcctgcaagtca       c.*6540

          .         .         .         .         .         .       g.463450
 gtggcataagtaagattatattgccccctaatctgtagggaaaagattaaaatatttttc       c.*6600

          .         .         .         .         .         .       g.463510
 ttccccttcaaaaagtgcacatgttgtaaactggttacgcacagtggtcatttttttttc       c.*6660

          .         .         .         .         .         .       g.463570
 ttatccttggcatcaaaccatggacgtaggtgtacaaatgcatctttcaatgacccctcc       c.*6720

          .         .         .         .         .         .       g.463630
 aaatccatagtgtaacatgatagattaacttttgtcaaactggactgacaatctaaaaaa       c.*6780

          .         .         .         .         .         .       g.463690
 gatggcgtcaggcttttgactttaatcgttaaaacaaggaccaccctatgagtaaaaggt       c.*6840

          .         .         .         .         .         .       g.463750
 aaattctccactttgaagaactttggtaagtacaagtacagggagctttagaaaatcgag       c.*6900

          .         .         .         .         .         .       g.463810
 tgatggggaccaaaggtacaaaggaagaatacatgaaaatgttatattccaaaatgccct       c.*6960

          .         .         .         .         .         .       g.463870
 gagcccaaagattggctgctatttttgtatattgaaatactcaaatgatggttggaaagt       c.*7020

          .         .         .         .         .         .       g.463930
 gactagttagtgactaaatgaagtgcaagatctatcaagcgtcttctttctgggactagg       c.*7080

          .         .         .         .         .         .       g.463990
 ggatgccatgcttccttccaaccttcccgcagcgcatctcagagaagatagttggcccca       c.*7140

          .         .         .         .         .         .       g.464050
 ttacaaacagtcacatttcagtaagatattagtcagccaggtaagacacgtgcaggtatc       c.*7200

          .         .         .         .         .         .       g.464110
 ggtatcatcttccatatgaactttagcaaggagagaacagcagcagatttagggatagac       c.*7260

          .         .         .         .         .         .       g.464170
 aatgtaacaggtctatgttgacaaatctgtgctaaataatttcatgaaccagtgtgggga       c.*7320

          .         .         .         .         .         .       g.464230
 ctgggaagaaaagcactttgagcaaggactcttgggttcgagcaaaggcaattagttgac       c.*7380

          .         .         .         .         .         .       g.464290
 atgatacttcttaagttcctcagtatgtatatgttacaatcgtttatcagacatcttaat       c.*7440

          .         .         .         .         .         .       g.464350
 agaatcctaattgaaaaaccagttgccaaaattgcacaagttctgctcgctgatactagc       c.*7500

          .         .         .         .         .         .       g.464410
 tttctccccttaactctaaaataccagggatgcttaaggacgtttgtaatagttttttta       c.*7560

          .         .         .         .         .         .       g.464470
 atgctttgtttcacttttttaaaaaagaatctttgaagggaaggaagagcagaaagaagt       c.*7620

          .         .         .         .         .         .       g.464530
 attttaagaaaaatggagagaagtagatagtattgaaagtatatttcttgaagagagagt       c.*7680

          .         .         .         .         .         .       g.464590
 atctaagtgctataccaagattttatagggcttcctgttgccaaatgtgatgttgagata       c.*7740

          .         .         .         .         .         .       g.464650
 atgcacagctaagatggcaaatccatcaattattaactggctctgcccacttctgtcatg       c.*7800

          .         .         .         .         .         .       g.464710
 gaatgcaaggattgagaggtgactctggggagaccctgggtgtgtgagagagctccattc       c.*7860

          .         .         .         .         .         .       g.464770
 atctggccctggatatgtttttcaaaagagagggagaaagcgccagtccctgcaaggtga       c.*7920

          .         .         .         .         .         .       g.464830
 actgacctggcactgtttcagtgggagcctcactgcctgccttttccatgctaggagaca       c.*7980

          .         .         .         .         .         .       g.464890
 aagcatcctctaccccatctgtgaatcggtgctgtggccactgcgagaagcatgattcat       c.*8040

          .         .         .         .         .         .       g.464950
 gaggtatgatgctcttgagctcccagacaatgtgctgagttaataggttcacttgagatg       c.*8100

          .         .         .         .         .         .       g.465010
 tatacaccaaggctgtttctttttttaaatctagtccccaatttggagtatttttgcatg       c.*8160

          .         .         .         .         .         .       g.465070
 tttttgtacagagtaatccattcctctcattgtgtatcttaatctcctctgacttttcca       c.*8220

          .         .         .         .         .         .       g.465130
 ttgtctttctcaatcccaccctttgctcttcggatctcaccaaccccccttaaaaaataa       c.*8280

          .         .         .         .         .         .       g.465190
 atcatgtttgagcaagaaggtagaacacgccctccctcatcttggttttaattgctttgg       c.*8340

          .         .         .         .         .         .       g.465250
 aaacgtgttctaccctgtccagggtttgcataacgtgaattaagtgaatgagatgttcta       c.*8400

          .         .         .         .         .         .       g.465310
 gtattatatcttaacctgataagactatctaagatttctagtatatggtgcatttgcttt       c.*8460

          .         .         .         .         .         .       g.465370
 cctgtgcaaactttggttcagctgccctgcagagaatctcaccattttcctgccagtgcc       c.*8520

          .         .         .         .         .         .       g.465430
 agtataaagaatgcaggagagctaaacctgggtacatgaaggtcagaggggtgaggacgg       c.*8580

          .         .         .         .         .         .       g.465490
 tcgagaaatggggagaagacttgggcttgagacgacctgggcttttcatgtgtagctcac       c.*8640

          .         .         .         .         .         .       g.465550
 tcagcagtatgaggatgactgacacaccagtgggtggtttccaagtgaggcaaatgccca       c.*8700

          .         .         .         .         .         .       g.465610
 tttcccctctcccctcacaccttgcctggcttcttccatgaagtccttgctgcttttctg       c.*8760

          .         .         .         .         .         .       g.465670
 cctccccaaaggtgaggggaaggggctggttggggatctgggaaagccagttctctgttc       c.*8820

          .         .         .         .         .         .       g.465730
 tctcctgctggtgatggactaggccttttagaactagcaagatccctcacacagctggga       c.*8880

          .         .         .         .         .         .       g.465790
 gaacacacacctttcttactccagacccattggtgtgtctccagtaacaaaattattgga       c.*8940

          .         .         .         .         .         .       g.465850
 ctcagcctccatatttgacagcaaaagtggccagagggagttgaaatatcttgaagaaaa       c.*9000

          .         .         .         .         .         .       g.465910
 ggaattttcactaagatatgtcctctccctctcccagagtttagctgtttattccttttt       c.*9060

          .         .         .         .         .         .       g.465970
 tttgtttatattgttctcatctgcataaaaccagtctcttgcaataagcctgccgcagaa       c.*9120

          .         .         .         .         .         .       g.466030
 tcaaagtctgtacttcaaaaggtaactgcaccaagggatgggacagtgtgcatcaccctg       c.*9180

          .         .         .         .         .         .       g.466090
 atctaatcattgtgacgttggtagcttcctaaatactgtatgtaccttgaacaagggttt       c.*9240

          .         .         .         .         .         .       g.466150
 tatttttgttttgttctgttttgctttttgtttttattggtaggctaaggtaattaaatt       c.*9300

          .         .         .         .         .         .       g.466210
 ttttaatttgctgttactttggttgtattttctgtactataactgcctacagtatgtctt       c.*9360

          .         .         .         .         .         .       g.466270
 ttgcataaaatgcataagggtttggggatgtaaatggaattttattcatattttgtccaa       c.*9420

          .         .         .         .         .         .       g.466330
 atacctcttgtaatttgtatcaaaattcttgtacaatttttatattaaagatttatcagt       c.*9480

                                                                    g.466336
 cactga                                                             c.*9486

 (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 Basonuclin 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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