SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, member 2 (SMARCA2) - coding DNA reference sequence

(used for variant description)

(last modified November 26, 2020)


This file was created to facilitate the description of sequence variants on transcript NM_003070.3 in the SMARCA2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_032162.2, covering SMARCA2 transcript NM_003070.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                               .         .         .                g.5039
                      tttctgtactctgggtgactcagagagggaagagattca       c.-61

 .         .         .    | 02    .         .         .             g.18681
 gccagcacactcctcgcgagcaag | cattactctactgactggcagagacaggagaggtag    c.-1

          .         .         .         .         .         .       g.18741
 ATGTCCACGCCCACAGACCCTGGTGCGATGCCCCACCCAGGGCCTTCGCCGGGGCCTGGG       c.60
 M  S  T  P  T  D  P  G  A  M  P  H  P  G  P  S  P  G  P  G         p.20

          .         .         .         .         .         .       g.18801
 CCTTCCCCTGGGCCAATTCTTGGGCCTAGTCCAGGACCAGGACCATCCCCAGGTTCCGTC       c.120
 P  S  P  G  P  I  L  G  P  S  P  G  P  G  P  S  P  G  S  V         p.40

          .         .         .         .         .         .       g.18861
 CACAGCATGATGGGGCCAAGTCCTGGACCTCCAAGTGTCTCCCATCCTATGCCGACGATG       c.180
 H  S  M  M  G  P  S  P  G  P  P  S  V  S  H  P  M  P  T  M         p.60

          .         .         .         .      | 03  .         .    g.22625
 GGGTCCACAGACTTCCCACAGGAAGGCATGCATCAAATGCATAAG | CCCATCGATGGTATA    c.240
 G  S  T  D  F  P  Q  E  G  M  H  Q  M  H  K   | P  I  D  G  I      p.80

          .         .         .         .         .         .       g.22685
 CATGACAAGGGGATTGTAGAAGACATCCATTGTGGATCCATGAAGGGCACTGGTATGCGA       c.300
 H  D  K  G  I  V  E  D  I  H  C  G  S  M  K  G  T  G  M  R         p.100

          .         .         .         .         .      | 04  .    g.29129
 CCACCTCACCCAGGCATGGGCCCTCCCCAGAGTCCAATGGATCAACACAGCCAAG | GTTAT    c.360
 P  P  H  P  G  M  G  P  P  Q  S  P  M  D  Q  H  S  Q  G |   Y      p.120

          .         .         .         .         .         .       g.29189
 ATGTCACCACACCCATCTCCATTAGGAGCCCCAGAGCACGTCTCCAGCCCTATGTCTGGA       c.420
 M  S  P  H  P  S  P  L  G  A  P  E  H  V  S  S  P  M  S  G         p.140

          .         .         .         .         .         .       g.29249
 GGAGGCCCAACTCCACCTCAGATGCCACCAAGCCAGCCGGGGGCCCTCATCCCAGGTGAT       c.480
 G  G  P  T  P  P  Q  M  P  P  S  Q  P  G  A  L  I  P  G  D         p.160

          .         .         .         .         .         .       g.29309
 CCGCAGGCCATGAGCCAGCCCAACAGAGGTCCCTCACCTTTCAGTCCTGTCCAGCTGCAT       c.540
 P  Q  A  M  S  Q  P  N  R  G  P  S  P  F  S  P  V  Q  L  H         p.180

          .         .         .         .         .         .       g.29369
 CAGCTTCGAGCTCAGATTTTAGCTTATAAAATGCTGGCCCGAGGCCAGCCCCTCCCCGAA       c.600
 Q  L  R  A  Q  I  L  A  Y  K  M  L  A  R  G  Q  P  L  P  E         p.200

          .         .         .         .         .         .       g.29429
 ACGCTGCAGCTTGCAGTCCAGGGGAAAAGGACGTTGCCTGGCTTGCAGCAACAACAGCAG       c.660
 T  L  Q  L  A  V  Q  G  K  R  T  L  P  G  L  Q  Q  Q  Q  Q         p.220

          .         .         .         .         .         .       g.29489
 CAGCAACAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAGCAACAGCAGCCGCAG       c.720
 Q  Q  Q  Q  Q  Q  Q  Q  Q  Q  Q  Q  Q  Q  Q  Q  Q  Q  P  Q         p.240

          .         .         .         .         .         .       g.29549
 CAGCAGCCGCCGCAACCACAGACGCAGCAACAACAGCAGCCGGCCCTTGTTAACTACAAC       c.780
 Q  Q  P  P  Q  P  Q  T  Q  Q  Q  Q  Q  P  A  L  V  N  Y  N         p.260

          . | 05       .         .         .         .         .    g.36937
 AGACCATCTG | GCCCGGGGCCGGAGCTGAGCGGCCCGAGCACCCCGCAGAAGCTGCCGGTG    c.840
 R  P  S  G |   P  G  P  E  L  S  G  P  S  T  P  Q  K  L  P  V      p.280

          .         .         .         .         .         .       g.36997
 CCCGCGCCCGGCGGCCGGCCCTCGCCCGCGCCCCCCGCAGCCGCGCAGCCGCCCGCGGCC       c.900
 P  A  P  G  G  R  P  S  P  A  P  P  A  A  A  Q  P  P  A  A         p.300

          .         .         .         .         .         .       g.37057
 GCAGTGCCCGGGCCCTCAGTGCCGCAGCCGGCCCCGGGGCAGCCCTCGCCCGTCCTCCAG       c.960
 A  V  P  G  P  S  V  P  Q  P  A  P  G  Q  P  S  P  V  L  Q         p.320

          .         .         .         .         .         .       g.37117
 CTGCAGCAGAAGCAGAGCCGCATCAGCCCCATCCAGAAACCGCAAGGCCTGGACCCCGTG       c.1020
 L  Q  Q  K  Q  S  R  I  S  P  I  Q  K  P  Q  G  L  D  P  V         p.340

          .         .       | 06 .         .         .         .    g.44289
 GAAATTCTGCAAGAGCGGGAATACAG | ACTTCAGGCCCGCATAGCTCATAGGATACAAGAA    c.1080
 E  I  L  Q  E  R  E  Y  R  |  L  Q  A  R  I  A  H  R  I  Q  E      p.360

          .         .         .         .         .         .       g.44349
 CTGGAAAATCTGCCTGGCTCTTTGCCACCAGATTTAAGAACCAAAGCAACCGTGGAACTA       c.1140
 L  E  N  L  P  G  S  L  P  P  D  L  R  T  K  A  T  V  E  L         p.380

          .         .         .    | 07    .         .         .    g.46357
 AAAGCACTTCGGTTACTCAATTTCCAGCGTCAG | CTGAGACAGGAGGTGGTGGCCTGCATG    c.1200
 K  A  L  R  L  L  N  F  Q  R  Q   | L  R  Q  E  V  V  A  C  M      p.400

          .         .         .         .         .         .       g.46417
 CGCAGGGACACGACCCTGGAGACGGCTCTCAACTCCAAAGCATACAAACGGAGCAAGCGC       c.1260
 R  R  D  T  T  L  E  T  A  L  N  S  K  A  Y  K  R  S  K  R         p.420

          .         .         .         .         .         .       g.46477
 CAGACTCTGAGAGAAGCTCGCATGACCGAGAAGCTGGAGAAGCAGCAGAAGATTGAGCAG       c.1320
 Q  T  L  R  E  A  R  M  T  E  K  L  E  K  Q  Q  K  I  E  Q         p.440

          .         .        | 08.         .         .         .    g.47982
 GAGAGGAAACGCCGTCAGAAACACCAG | GAATACCTGAACAGTATTTTGCAACATGCAAAA    c.1380
 E  R  K  R  R  Q  K  H  Q   | E  Y  L  N  S  I  L  Q  H  A  K      p.460

          .         .         .         .         .         .       g.48042
 GATTTTAAGGAATATCATCGGTCTGTGGCCGGAAAGATCCAGAAGCTCTCCAAAGCAGTG       c.1440
 D  F  K  E  Y  H  R  S  V  A  G  K  I  Q  K  L  S  K  A  V         p.480

          .         .         .         .         .         .       g.48102
 GCAACTTGGCATGCCAACACTGAAAGAGAGCAGAAGAAGGAGACAGAGCGGATTGAAAAG       c.1500
 A  T  W  H  A  N  T  E  R  E  Q  K  K  E  T  E  R  I  E  K         p.500

          .         .  | 09      .         .         .         .    g.50513
 GAGAGAATGCGGCGACTGATG | GCTGAAGATGAGGAGGGTTATAGAAAACTGATTGATCAA    c.1560
 E  R  M  R  R  L  M   | A  E  D  E  E  G  Y  R  K  L  I  D  Q      p.520

          .         .         .         .         .         .       g.50573
 AAGAAAGACAGGCGTTTAGCTTACCTTTTGCAGCAGACCGATGAGTATGTAGCCAATCTG       c.1620
 K  K  D  R  R  L  A  Y  L  L  Q  Q  T  D  E  Y  V  A  N  L         p.540

          .         .         .         .         .         .       g.50633
 ACCAATCTGGTTTGGGAGCACAAGCAAGCCCAGGCAGCCAAAGAGAAGAAGAAGAGGAGG       c.1680
 T  N  L  V  W  E  H  K  Q  A  Q  A  A  K  E  K  K  K  R  R         p.560

          .   | 10     .         .         .         .         .    g.60124
 AGGAGGAAGAAG | AAGGCTGAGGAGAATGCAGAGGGTGGGGAGTCTGCCCTGGGACCGGAT    c.1740
 R  R  K  K   | K  A  E  E  N  A  E  G  G  E  S  A  L  G  P  D      p.580

        | 11 .         .         .         .         .         .    g.62924
 GGAGAG | CCCATAGATGAGAGCAGCCAGATGAGTGACCTCCCTGTCAAAGTGACTCACACA    c.1800
 G  E   | P  I  D  E  S  S  Q  M  S  D  L  P  V  K  V  T  H  T      p.600

          .         .         .         .         .         .       g.62984
 GAAACCGGCAAGGTTCTGTTCGGACCAGAAGCACCCAAAGCAAGTCAGCTGGACGCCTGG       c.1860
 E  T  G  K  V  L  F  G  P  E  A  P  K  A  S  Q  L  D  A  W         p.620

          .        | 12.         .         .         .         .    g.63267
 CTGGAAATGAATCCTGG | TTATGAAGTTGCCCCTAGATCTGACAGTGAAGAGAGTGATTCT    c.1920
 L  E  M  N  P  G  |  Y  E  V  A  P  R  S  D  S  E  E  S  D  S      p.640

          .      | 13  .         .         .         .         .    g.65932
 GATTATGAGGAAGAG | GATGAGGAAGAAGAGTCCAGTAGGCAGGAAACCGAAGAGAAAATA    c.1980
 D  Y  E  E  E   | D  E  E  E  E  S  S  R  Q  E  T  E  E  K  I      p.660

          .         .         .         .         .       | 14 .    g.67291
 CTCCTGGATCCAAATAGCGAAGAAGTTTCTGAGAAGGATGCTAAGCAGATCATTGA | GACA    c.2040
 L  L  D  P  N  S  E  E  V  S  E  K  D  A  K  Q  I  I  E  |  T      p.680

          .         .         .         .         .         .       g.67351
 GCTAAGCAAGACGTGGATGATGAATACAGCATGCAGTACAGTGCCAGGGGCTCCCAGTCC       c.2100
 A  K  Q  D  V  D  D  E  Y  S  M  Q  Y  S  A  R  G  S  Q  S         p.700

          .         .         .         .         .         .       g.67411
 TACTACACCGTGGCTCATGCCATCTCGGAGAGGGTGGAGAAACAGTCTGCCCTCCTAATT       c.2160
 Y  Y  T  V  A  H  A  I  S  E  R  V  E  K  Q  S  A  L  L  I         p.720

          .         .     | 15   .         .         .         .    g.71526
 AATGGGACCCTAAAGCATTACCAG | CTCCAGGGCCTGGAATGGATGGTTTCCCTGTATAAT    c.2220
 N  G  T  L  K  H  Y  Q   | L  Q  G  L  E  W  M  V  S  L  Y  N      p.740

          .         .         .         .         .         .       g.71586
 AACAACTTGAACGGAATCTTAGCCGATGAAATGGGGCTTGGAAAGACCATACAGACCATT       c.2280
 N  N  L  N  G  I  L  A  D  E  M  G  L  G  K  T  I  Q  T  I         p.760

          .         .         .         .         .         .       g.71646
 GCACTCATCACTTATCTGATGGAGCACAAAAGACTCAATGGCCCCTATCTCATCATTGTT       c.2340
 A  L  I  T  Y  L  M  E  H  K  R  L  N  G  P  Y  L  I  I  V         p.780

          | 16         .         .         .         .         .    g.73057
 CCCCTTTC | GACTCTATCTAACTGGACATATGAATTTGACAAATGGGCTCCTTCTGTGGTG    c.2400
 P  L  S  |  T  L  S  N  W  T  Y  E  F  D  K  W  A  P  S  V  V      p.800

          .      | 17  .         .         .         .         .    g.73789
 AAGATTTCTTACAAG | GGTACTCCTGCCATGCGTCGCTCCCTTGTCCCCCAGCTACGGAGT    c.2460
 K  I  S  Y  K   | G  T  P  A  M  R  R  S  L  V  P  Q  L  R  S      p.820

          .         .         .         .         .         .       g.73849
 GGCAAATTCAATGTCCTCTTGACTACTTATGAGTATATTATAAAAGACAAGCACATTCTT       c.2520
 G  K  F  N  V  L  L  T  T  Y  E  Y  I  I  K  D  K  H  I  L         p.840

        | 18 .         .         .         .         .         .    g.76541
 GCAAAG | ATTCGGTGGAAATACATGATAGTGGACGAAGGCCACCGAATGAAGAATCACCAC    c.2580
 A  K   | I  R  W  K  Y  M  I  V  D  E  G  H  R  M  K  N  H  H      p.860

          .         .         .         .         .         .       g.76601
 TGCAAGCTGACTCAGGTCTTGAACACTCACTATGTGGCCCCCAGAAGGATCCTCTTGACT       c.2640
 C  K  L  T  Q  V  L  N  T  H  Y  V  A  P  R  R  I  L  L  T         p.880

          .         .         .         .         .         .       g.76661
 GGGACCCCGCTGCAGAATAAGCTCCCTGAACTCTGGGCCCTCCTCAACTTCCTCCTCCCA       c.2700
 G  T  P  L  Q  N  K  L  P  E  L  W  A  L  L  N  F  L  L  P         p.900

          .         .         .         .         .         .       g.76721
 ACAATTTTTAAGAGCTGCAGCACATTTGAACAATGGTTCAATGCTCCATTTGCCATGACT       c.2760
 T  I  F  K  S  C  S  T  F  E  Q  W  F  N  A  P  F  A  M  T         p.920

           | 19        .         .         .         .         .    g.78209
 GGTGAAAGG | GTGGACTTAAATGAAGAAGAAACTATATTGATCATCAGGCGTCTACATAAG    c.2820
 G  E  R   | V  D  L  N  E  E  E  T  I  L  I  I  R  R  L  H  K      p.940

          .         .         .         .         .         .       g.78269
 GTGTTAAGACCATTTTTACTAAGGAGACTGAAGAAAGAAGTTGAATCCCAGCTTCCCGAA       c.2880
 V  L  R  P  F  L  L  R  R  L  K  K  E  V  E  S  Q  L  P  E         p.960

     | 20    .         .         .         .         .         .    g.86372
 AAA | GTGGAATATGTGATCAAGTGTGACATGTCAGCTCTGCAGAAGATTCTGTATCGCCAT    c.2940
 K   | V  E  Y  V  I  K  C  D  M  S  A  L  Q  K  I  L  Y  R  H      p.980

          .         .         .         .         .  | 21      .    g.87052
 ATGCAAGCCAAGGGGATCCTTCTCACAGATGGTTCTGAGAAAGATAAGAAG | GGGAAAGGA    c.3000
 M  Q  A  K  G  I  L  L  T  D  G  S  E  K  D  K  K   | G  K  G      p.1000

          .         .         .         .         .         .       g.87112
 GGTGCTAAGACACTTATGAACACTATTATGCAGTTGAGAAAAATCTGCAACCACCCATAT       c.3060
 G  A  K  T  L  M  N  T  I  M  Q  L  R  K  I  C  N  H  P  Y         p.1020

          .         | 22         .         .         .         .    g.91270
 ATGTTTCAGCACATTGAG | GAATCCTTTGCTGAACACCTAGGCTATTCAAATGGGGTCATC    c.3120
 M  F  Q  H  I  E   | E  S  F  A  E  H  L  G  Y  S  N  G  V  I      p.1040

       | 23  .         .         .         .         .         .    g.93716
 AATGG | GGCTGAACTGTATCGGGCCTCAGGGAAGTTTGAGCTGCTTGATCGTATTCTGCCA    c.3180
 N  G  |  A  E  L  Y  R  A  S  G  K  F  E  L  L  D  R  I  L  P      p.1060

          .         .         .         .         .         .       g.93776
 AAATTGAGAGCGACTAATCACCGAGTGCTGCTTTTCTGCCAGATGACATCTCTCATGACC       c.3240
 K  L  R  A  T  N  H  R  V  L  L  F  C  Q  M  T  S  L  M  T         p.1080

          .         .         .         .         .   | 24     .    g.99920
 ATCATGGAGGATTATTTTGCTTTTCGGAACTTCCTTTACCTACGCCTTGATG | GCACCACC    c.3300
 I  M  E  D  Y  F  A  F  R  N  F  L  Y  L  R  L  D  G |   T  T      p.1100

          .         .         .         .         .         .       g.99980
 AAGTCTGAAGATCGTGCTGCTTTGCTGAAGAAATTCAATGAACCTGGATCCCAGTATTTC       c.3360
 K  S  E  D  R  A  A  L  L  K  K  F  N  E  P  G  S  Q  Y  F         p.1120

          .         .         .         .         .         .       g.100040
 ATTTTCTTGCTGAGCACAAGAGCTGGTGGCCTGGGCTTAAATCTTCAGGCAGCTGATACA       c.3420
 I  F  L  L  S  T  R  A  G  G  L  G  L  N  L  Q  A  A  D  T         p.1140

          .         .         .       | 25 .         .         .    g.105504
 GTGGTCATCTTTGACAGCGACTGGAATCCTCATCAG | GATCTGCAGGCCCAAGACCGAGCT    c.3480
 V  V  I  F  D  S  D  W  N  P  H  Q   | D  L  Q  A  Q  D  R  A      p.1160

          .         .         .         .         .         .       g.105564
 CACCGCATCGGGCAGCAGAACGAGGTCCGGGTACTGAGGCTCTGTACCGTGAACAGCGTG       c.3540
 H  R  I  G  Q  Q  N  E  V  R  V  L  R  L  C  T  V  N  S  V         p.1180

          .         .         .         .         .         .       g.105624
 GAGGAAAAGATCCTCGCGGCCGCAAAATACAAGCTGAACGTGGATCAGAAAGTGATCCAG       c.3600
 E  E  K  I  L  A  A  A  K  Y  K  L  N  V  D  Q  K  V  I  Q         p.1200

          .         .         .         .         .         .       g.105684
 GCGGGCATGTTTGACCAAAAGTCTTCAAGCCACGAGCGGAGGGCATTCCTGCAGGCCATC       c.3660
 A  G  M  F  D  Q  K  S  S  S  H  E  R  R  A  F  L  Q  A  I         p.1220

          .         .     | 26   .         .         .         .    g.109152
 TTGGAGCATGAGGAGGAAAATGAG | GAAGAAGATGAAGTACCGGACGATGAGACTCTGAAC    c.3720
 L  E  H  E  E  E  N  E   | E  E  D  E  V  P  D  D  E  T  L  N      p.1240

          .         .         .         .   | 27     .         .    g.113395
 CAAATGATTGCTCGACGAGAAGAAGAATTTGACCTTTTTATG | CGGATGGACATGGACCGG    c.3780
 Q  M  I  A  R  R  E  E  E  F  D  L  F  M   | R  M  D  M  D  R      p.1260

          .         .         .         .         .         .       g.113455
 CGGAGGGAAGATGCCCGGAACCCGAAACGGAAGCCCCGTTTAATGGAGGAGGATGAGCTG       c.3840
 R  R  E  D  A  R  N  P  K  R  K  P  R  L  M  E  E  D  E  L         p.1280

          .         .         .         .         .         .       g.113515
 CCCTCCTGGATCATTAAGGATGACGCTGAAGTAGAAAGGCTCACCTGTGAAGAAGAGGAG       c.3900
 P  S  W  I  I  K  D  D  A  E  V  E  R  L  T  C  E  E  E  E         p.1300

          .         .         .         .         .         .       g.113575
 GAGAAAATATTTGGGAGGGGGTCCCGCCAGCGCCGTGACGTGGACTACAGTGACGCCCTC       c.3960
 E  K  I  F  G  R  G  S  R  Q  R  R  D  V  D  Y  S  D  A  L         p.1320

          .         .  | 28      .         .         .         .    g.151383
 ACGGAGAAGCAGTGGCTAAGG | GCCATCGAAGACGGCAATTTGGAGGAAATGGAAGAGGAA    c.4020
 T  E  K  Q  W  L  R   | A  I  E  D  G  N  L  E  E  M  E  E  E      p.1340

          .         .         .         .         .         .       g.151443
 GTACGGCTTAAGAAGCGAAAAAGACGAAGAAATGTGGATAAAGATCCTGCAAAAGAAGAT       c.4080
 V  R  L  K  K  R  K  R  R  R  N  V  D  K  D  P  A  K  E  D         p.1360

          .         .         .         .         .         .       g.151503
 GTGGAAAAAGCTAAGAAGAGAAGAGGCCGCCCTCCCGCTGAGAAACTGTCACCAAATCCC       c.4140
 V  E  K  A  K  K  R  R  G  R  P  P  A  E  K  L  S  P  N  P         p.1380

          .         .         .         .         .          | 29    g.160078
 CCCAAACTGACAAAGCAGATGAACGCTATCATCGATACTGTGATAAACTACAAAGATAG | G    c.4200
 P  K  L  T  K  Q  M  N  A  I  I  D  T  V  I  N  Y  K  D  R  |      p.1400

          .         .         .         .         .    | 30    .    g.171236
 TGTAACGTGGAGAAGGTGCCCAGTAATTCTCAGTTGGAAATAGAAGGAAACAG | TTCAGGG    c.4260
 C  N  V  E  K  V  P  S  N  S  Q  L  E  I  E  G  N  S  |  S  G      p.1420

          .         .         .         .         .         .       g.171296
 CGACAGCTCAGTGAAGTCTTCATTCAGTTACCTTCAAGGAAAGAATTACCAGAATACTAT       c.4320
 R  Q  L  S  E  V  F  I  Q  L  P  S  R  K  E  L  P  E  Y  Y         p.1440

          .         .         .          | 31        .         .    g.171820
 GAATTAATTAGGAAGCCAGTGGATTTCAAAAAAATAAAG | GAAAGGATTCGTAATCATAAG    c.4380
 E  L  I  R  K  P  V  D  F  K  K  I  K   | E  R  I  R  N  H  K      p.1460

          .         .         .         .         .         .       g.171880
 TACCGGAGCCTAGGCGACCTGGAGAAGGATGTCATGCTTCTCTGTCACAACGCTCAGACG       c.4440
 Y  R  S  L  G  D  L  E  K  D  V  M  L  L  C  H  N  A  Q  T         p.1480

          .         .  | 32      .         .         .         .    g.175793
 TTCAACCTGGAGGGATCCCAG | ATCTATGAAGACTCCATCGTCTTACAGTCAGTGTTTAAG    c.4500
 F  N  L  E  G  S  Q   | I  Y  E  D  S  I  V  L  Q  S  V  F  K      p.1500

          .         .         .         .         .         .       g.175853
 AGTGCCCGGCAGAAAATTGCCAAAGAGGAAGAGAGTGAGGATGAAAGCAATGAAGAGGAG       c.4560
 S  A  R  Q  K  I  A  K  E  E  E  S  E  D  E  S  N  E  E  E         p.1520

          .         .         .     | 33   .         .         .    g.180950
 GAAGAGGAAGATGAAGAAGAGTCAGAGTCCGAGG | CAAAATCAGTCAAGGTGAAAATTAAG    c.4620
 E  E  E  D  E  E  E  S  E  S  E  A |   K  S  V  K  V  K  I  K      p.1540

          .         .         .         .         .         .       g.181010
 CTCAATAAAAAAGATGACAAAGGCCGGGACAAAGGGAAAGGCAAGAAAAGGCCAAATCGA       c.4680
 L  N  K  K  D  D  K  G  R  D  K  G  K  G  K  K  R  P  N  R         p.1560

          .         .         .         .         .        | 34.    g.182365
 GGAAAAGCCAAACCTGTAGTGAGCGATTTTGACAGCGATGAGGAGCAGGATGAACGT | GAA    c.4740
 G  K  A  K  P  V  V  S  D  F  D  S  D  E  E  Q  D  E  R   | E      p.1580

          .         .         .                                     g.182398
 CAGTCAGAAGGAAGTGGGACGGATGATGAGTGA                                  c.4773
 Q  S  E  G  S  G  T  D  D  E  X                                    p.1590

          .         .         .         .         .         .       g.182458
 tcagtatggacctttttccttggtagaactgaattccttcctcccctgtctcatttctac       c.*60

          .         .         .         .         .         .       g.182518
 ccagtgagttcatttgtcatataggcactgggttgtttctatatcatcatcgtctataaa       c.*120

          .         .         .         .         .         .       g.182578
 ctagctttaggatagtgccagacaaacatatgatatcatggtgtaaaaaacacacacata       c.*180

          .         .         .         .         .         .       g.182638
 cacaaatatttgtaacatattgtgaccaaatgggcctcaaagattcagattgaaacaaac       c.*240

          .         .         .         .         .         .       g.182698
 aaaaagcttttgatggaaaatatgtgggtggatagtatatttctatgggtgggtctaatt       c.*300

          .         .         .         .         .         .       g.182758
 tggtaacggtttgattgtgcctggttttatcacctgttcagatgagaagatttttgtctt       c.*360

          .         .         .         .         .         .       g.182818
 ttgtagcactgataaccaggagaagccattaaaagccactggttattttatttttcatca       c.*420

          .         .         .         .         .         .       g.182878
 ggcaattttcgaggtttttatttgttcggtattgtttttttacactgtggtacatataag       c.*480

          .         .         .         .         .         .       g.182938
 caactttaataggtgataaatgtacagtagttagatttcacctgcatatacatttttcca       c.*540

          .         .         .         .         .         .       g.182998
 ttttatgctctatgatctgaacaaaagctttttgaattgtataagatttatgtctactgt       c.*600

          .         .         .         .         .         .       g.183058
 aaacattgcttaatttttttgctcttgatttaaaaaaaagttttgttgaaagcgctattg       c.*660

          .         .         .         .         .         .       g.183118
 aatattgcaatctatatagtgtattggatggcttcttttgtcaccctgatctcctatgtt       c.*720

          .         .         .         .         .         .       g.183178
 accaatgtgtatcgtctccttctccctaaagtgtacttaatctttgctttctttgcacaa       c.*780

          .         .         .         .         .         .       g.183238
 tgtctttggttgcaagtcataagcctgaggcaaataaaattccagtaatttcgaagaatg       c.*840

          .         .         .         .                           g.183283
 tggtgttggtgctttcctaataaagaaataatttagcttgacaaa                      c.*885

 (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 SWI/SNF related, matrix associated, actin dependent regulator of chromatin, subfamily a, 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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