sodium channel, voltage-gated, type II, alpha subunit (SCN2A) - coding DNA reference sequence

(used for variant description)

(last modified April 6, 2018)


This file was created to facilitate the description of sequence variants on transcript NM_021007.2 in the SCN2A gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_008143.1, covering SCN2A transcript NM_021007.2.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.59485
     ggctgcttcagacatatgtctgtgtgtacgctgtgaaggtgtttctcttcacagtt       c.-301

 .         .         .         .         .         .                g.59545
 ccccgccctctagtggtagttacaataatgccattttgtagtccctgtacaggaaatgcc       c.-241

 .         .         .         .         .         .                g.59605
 tcttcttacttcagttaccagaatccttttacaggaagttaggtgtggtctttgaaggag       c.-181

 .         .         .         .         .         .                g.59665
 aattaaaaaaaaaaaaaaaaaaaaaaaaaaaagatttttttttttttaaagcatgatgga       c.-121

 .         .         .         .         .         .                g.59725
 attttagctgcagtcttcttggtgccagcttatcaatcccaaactctgggtgtaaaagat       c.-61

 .         | 02         .         .         .         .             g.61422
 tctacaggg | cactttcttatgcaaggagctaaacagtgattaaaggagcaggatgaaaag    c.-1

          .         .         .         .         .         .       g.61482
 ATGGCACAGTCAGTGCTGGTACCGCCAGGACCTGACAGCTTCCGCTTCTTTACCAGGGAA       c.60
 M  A  Q  S  V  L  V  P  P  G  P  D  S  F  R  F  F  T  R  E         p.20

          .         .         .         .         .         .       g.61542
 TCCCTTGCTGCTATTGAACAACGCATTGCAGAAGAGAAAGCTAAGAGACCCAAACAGGAA       c.120
 S  L  A  A  I  E  Q  R  I  A  E  E  K  A  K  R  P  K  Q  E         p.40

          .         .         .         .         .         .       g.61602
 CGCAAGGATGAGGATGATGAAAATGGCCCAAAGCCAAACAGTGACTTGGAAGCAGGAAAA       c.180
 R  K  D  E  D  D  E  N  G  P  K  P  N  S  D  L  E  A  G  K         p.60

          .         .         .         .         .         .       g.61662
 TCTCTTCCATTTATTTATGGAGACATTCCTCCAGAGATGGTGTCAGTGCCCCTGGAGGAT       c.240
 S  L  P  F  I  Y  G  D  I  P  P  E  M  V  S  V  P  L  E  D         p.80

          .         .        | 03.         .         .         .    g.62648
 CTGGACCCCTACTATATCAATAAGAAA | ACGTTTATAGTATTGAATAAAGGGAAAGCAATC    c.300
 L  D  P  Y  Y  I  N  K  K   | T  F  I  V  L  N  K  G  K  A  I      p.100

          .         .         .         .         .         .       g.62708
 TCTCGATTCAGTGCCACCCCTGCCCTTTACATTTTAACTCCCTTCAACCCTATTAGAAAA       c.360
 S  R  F  S  A  T  P  A  L  Y  I  L  T  P  F  N  P  I  R  K         p.120

          .         .       | 04 .         .         .         .    g.73480
 TTAGCTATTAAGATTTTGGTACATTC | TTTATTCAATATGCTCATTATGTGCACGATTCTT    c.420
 L  A  I  K  I  L  V  H  S  |  L  F  N  M  L  I  M  C  T  I  L      p.140

          .         .         .         .         .       | 05 .    g.74268
 ACCAACTGTGTATTTATGACCATGAGTAACCCTCCAGACTGGACAAAGAATGTGGA | GTAT    c.480
 T  N  C  V  F  M  T  M  S  N  P  P  D  W  T  K  N  V  E  |  Y      p.160

          .         .         .         .         .         .       g.74328
 ACCTTTACAGGAATTTATACTTTTGAATCACTTATTAAAATACTTGCAAGGGGCTTTTGT       c.540
 T  F  T  G  I  Y  T  F  E  S  L  I  K  I  L  A  R  G  F  C         p.180

          .         .         .         .         .         .       g.74388
 TTAGAAGATTTCACATTTTTACGGGATCCATGGAATTGGTTGGATTTCACAGTCATTACT       c.600
 L  E  D  F  T  F  L  R  D  P  W  N  W  L  D  F  T  V  I  T         p.200

       | 06  .         .         .         .         .         .    g.75005
 TTTGC | ATATGTGACAGAGTTTGTGGACCTGGGCAATGTCTCAGCGTTGAGAACATTCAGA    c.660
 F  A  |  Y  V  T  E  F  V  D  L  G  N  V  S  A  L  R  T  F  R      p.220

          .         .         .        | 07.         .         .    g.75944
 GTTCTCCGAGCATTGAAAACAATTTCAGTCATTCCAG | GCCTGAAGACCATTGTGGGGGCC    c.720
 V  L  R  A  L  K  T  I  S  V  I  P  G |   L  K  T  I  V  G  A      p.240

          .         .         .         .         .         .       g.76004
 CTGATCCAGTCAGTGAAGAAGCTTTCTGATGTCATGATCTTGACTGTGTTCTGTCTAAGC       c.780
 L  I  Q  S  V  K  K  L  S  D  V  M  I  L  T  V  F  C  L  S         p.260

          .         .         .         .         .         .       g.76064
 GTGTTTGCGCTAATAGGATTGCAGTTGTTCATGGGCAACCTACGAAATAAATGTTTGCAA       c.840
 V  F  A  L  I  G  L  Q  L  F  M  G  N  L  R  N  K  C  L  Q         p.280

          .         .         .         .         .         .       g.76124
 TGGCCTCCAGATAATTCTTCCTTTGAAATAAATATCACTTCCTTCTTTAACAATTCATTG       c.900
 W  P  P  D  N  S  S  F  E  I  N  I  T  S  F  F  N  N  S  L         p.300

          .         .         .         .         .         .       g.76184
 GATGGGAATGGTACTACTTTCAATAGGACAGTGAGCATATTTAACTGGGATGAATATATT       c.960
 D  G  N  G  T  T  F  N  R  T  V  S  I  F  N  W  D  E  Y  I         p.320

          . | 08       .         .         .         .         .    g.77673
 GAGGATAAAA | GTCACTTTTATTTTTTAGAGGGGCAAAATGATGCTCTGCTTTGTGGCAAC    c.1020
 E  D  K  S |   H  F  Y  F  L  E  G  Q  N  D  A  L  L  C  G  N      p.340

          .     | 09   .         .         .         .         .    g.79264
 AGCTCAGATGCAGG | CCAGTGTCCTGAAGGATACATCTGTGTGAAGGCTGGTAGAAACCCC    c.1080
 S  S  D  A  G  |  Q  C  P  E  G  Y  I  C  V  K  A  G  R  N  P      p.360

          .         .         .         .         .         .       g.79324
 AACTATGGCTACACGAGCTTTGACACCTTTAGTTGGGCCTTTTTGTCCTTATTTCGTCTC       c.1140
 N  Y  G  Y  T  S  F  D  T  F  S  W  A  F  L  S  L  F  R  L         p.380

          .         .         .       | 10 .         .         .    g.79524
 ATGACTCAAGACTTCTGGGAAAACCTTTATCAACTG | ACACTACGTGCTGCTGGGAAAACG    c.1200
 M  T  Q  D  F  W  E  N  L  Y  Q  L   | T  L  R  A  A  G  K  T      p.400

          .         .         .         .         .         .       g.79584
 TACATGATATTTTTTGTGCTGGTCATTTTCTTGGGCTCATTCTATCTAATAAATTTGATC       c.1260
 Y  M  I  F  F  V  L  V  I  F  L  G  S  F  Y  L  I  N  L  I         p.420

          .         .         .         .         .         .       g.79644
 TTGGCTGTGGTGGCCATGGCCTATGAGGAACAGAATCAGGCCACATTGGAAGAGGCTGAA       c.1320
 L  A  V  V  A  M  A  Y  E  E  Q  N  Q  A  T  L  E  E  A  E         p.440

          .         .         .         .         .         .       g.79704
 CAGAAGGAAGCTGAATTTCAGCAGATGCTCGAACAGTTGAAAAAGCAACAAGAAGAAGCT       c.1380
 Q  K  E  A  E  F  Q  Q  M  L  E  Q  L  K  K  Q  Q  E  E  A         p.460

     | 11    .         .         .         .         .         .    g.81126
 CAG | GCGGCAGCTGCAGCCGCATCTGCTGAATCAAGAGACTTCAGTGGTGCTGGTGGGATA    c.1440
 Q   | A  A  A  A  A  A  S  A  E  S  R  D  F  S  G  A  G  G  I      p.480

          .         .         .         .         .         .       g.81186
 GGAGTTTTTTCAGAGAGTTCTTCAGTAGCATCTAAGTTGAGCTCCAAAAGTGAAAAAGAG       c.1500
 G  V  F  S  E  S  S  S  V  A  S  K  L  S  S  K  S  E  K  E         p.500

          .         .         .         .         .         .       g.81246
 CTGAAAAACAGAAGAAAGAAAAAGAAACAGAAAGAACAGTCTGGAGAAGAAGAGAAAAAT       c.1560
 L  K  N  R  R  K  K  K  K  Q  K  E  Q  S  G  E  E  E  K  N         p.520

          .         .         .         .         .         .       g.81306
 GACAGAGTCCGAAAATCGGAATCTGAAGACAGCATAAGAAGAAAAGGTTTCCGTTTTTCC       c.1620
 D  R  V  R  K  S  E  S  E  D  S  I  R  R  K  G  F  R  F  S         p.540

          .         .         .         .         .  | 12      .    g.88763
 TTGGAAGGAAGTAGGCTGACATATGAAAAGAGATTTTCTTCTCCACACCAG | TCCTTACTG    c.1680
 L  E  G  S  R  L  T  Y  E  K  R  F  S  S  P  H  Q   | S  L  L      p.560

          .         .         .         .         .         .       g.88823
 AGCATCCGTGGCTCCCTTTTCTCTCCAAGACGCAACAGTAGGGCGAGCCTTTTCAGCTTC       c.1740
 S  I  R  G  S  L  F  S  P  R  R  N  S  R  A  S  L  F  S  F         p.580

          .         .         .         .         .         .       g.88883
 AGAGGTCGAGCAAAGGACATTGGCTCTGAGAATGACTTTGCTGATGATGAGCACAGCACC       c.1800
 R  G  R  A  K  D  I  G  S  E  N  D  F  A  D  D  E  H  S  T         p.600

          .         .         .         .         .         .       g.88943
 TTTGAGGACAATGACAGCCGAAGAGACTCTCTGTTCGTGCCGCACAGACATGGAGAACGG       c.1860
 F  E  D  N  D  S  R  R  D  S  L  F  V  P  H  R  H  G  E  R         p.620

          .         .         .         .         .         .       g.89003
 CGCCACAGCAATGTCAGCCAGGCCAGCCGTGCCTCCAGGGTGCTCCCCATCCTGCCCATG       c.1920
 R  H  S  N  V  S  Q  A  S  R  A  S  R  V  L  P  I  L  P  M         p.640

          .         .         .         .         .         .       g.89063
 AATGGGAAGATGCATAGCGCTGTGGACTGCAATGGTGTGGTCTCCCTGGTCGGGGGCCCT       c.1980
 N  G  K  M  H  S  A  V  D  C  N  G  V  V  S  L  V  G  G  P         p.660

          .         .         .       | 13 .         .         .    g.92474
 TCTACCCTCACATCTGCTGGGCAGCTCCTACCAGAG | GGCACAACTACTGAAACAGAAATA    c.2040
 S  T  L  T  S  A  G  Q  L  L  P  E   | G  T  T  T  E  T  E  I      p.680

          .         .         .         .         .         .       g.92534
 AGAAAGAGACGGTCCAGTTCTTATCATGTTTCCATGGATTTATTGGAAGATCCTACATCA       c.2100
 R  K  R  R  S  S  S  Y  H  V  S  M  D  L  L  E  D  P  T  S         p.700

          .         .         .         .          | 14        .    g.96939
 AGGCAAAGAGCAATGAGTATAGCCAGTATTTTGACCAACACCATGGAAG | AACTTGAAGAA    c.2160
 R  Q  R  A  M  S  I  A  S  I  L  T  N  T  M  E  E |   L  E  E      p.720

          .         .         .         .         .         .       g.96999
 TCCAGACAGAAATGCCCACCATGCTGGTATAAATTTGCTAATATGTGTTTGATTTGGGAC       c.2220
 S  R  Q  K  C  P  P  C  W  Y  K  F  A  N  M  C  L  I  W  D         p.740

          .         .         .         .         .         .       g.97059
 TGTTGTAAACCATGGTTAAAGGTGAAACACCTTGTCAACCTGGTTGTAATGGACCCATTT       c.2280
 C  C  K  P  W  L  K  V  K  H  L  V  N  L  V  V  M  D  P  F         p.760

          .         .         .         .         .         .       g.97119
 GTTGACCTGGCCATCACCATCTGCATTGTCTTAAATACACTCTTCATGGCTATGGAGCAC       c.2340
 V  D  L  A  I  T  I  C  I  V  L  N  T  L  F  M  A  M  E  H         p.780

          .         .         .         .         | 15         .    g.107906
 TATCCCATGACGGAGCAGTTCAGCAGTGTACTGTCTGTTGGAAACCTG | GTCTTCACAGGG    c.2400
 Y  P  M  T  E  Q  F  S  S  V  L  S  V  G  N  L   | V  F  T  G      p.800

          .         .         .         .         .         .       g.107966
 ATCTTCACAGCAGAAATGTTTCTCAAGATAATTGCCATGGATCCATATTATTACTTTCAA       c.2460
 I  F  T  A  E  M  F  L  K  I  I  A  M  D  P  Y  Y  Y  F  Q         p.820

          .         .         .         .         .         .       g.108026
 GAAGGCTGGAATATTTTTGATGGTTTTATTGTGAGCCTTAGTTTAATGGAACTTGGTTTG       c.2520
 E  G  W  N  I  F  D  G  F  I  V  S  L  S  L  M  E  L  G  L         p.840

          .         .         .         .   | 16     .         .    g.110171
 GCAAATGTGGAAGGATTGTCAGTTCTCCGATCATTCCGGCTG | CTCCGAGTTTTCAAGTTG    c.2580
 A  N  V  E  G  L  S  V  L  R  S  F  R  L   | L  R  V  F  K  L      p.860

          .         .         .         .         .         .       g.110231
 GCAAAATCTTGGCCAACTCTAAATATGCTAATTAAGATCATTGGCAATTCTGTGGGGGCT       c.2640
 A  K  S  W  P  T  L  N  M  L  I  K  I  I  G  N  S  V  G  A         p.880

          .         .         .         .         .         .       g.110291
 CTAGGAAACCTCACCTTGGTATTGGCCATCATCGTCTTCATTTTTGCTGTGGTCGGCATG       c.2700
 L  G  N  L  T  L  V  L  A  I  I  V  F  I  F  A  V  V  G  M         p.900

          .         .         .         .         .         .       g.110351
 CAGCTCTTTGGTAAGAGCTACAAAGAATGTGTCTGCAAGATTTCCAATGATTGTGAACTC       c.2760
 Q  L  F  G  K  S  Y  K  E  C  V  C  K  I  S  N  D  C  E  L         p.920

          .         .         .         .         .         .       g.110411
 CCACGCTGGCACATGCATGACTTTTTCCACTCCTTCCTGATCGTGTTCCGCGTGCTGTGT       c.2820
 P  R  W  H  M  H  D  F  F  H  S  F  L  I  V  F  R  V  L  C         p.940

          .         .         .         .         .         .       g.110471
 GGAGAGTGGATAGAGACCATGTGGGACTGTATGGAGGTCGCTGGCCAAACCATGTGCCTT       c.2880
 G  E  W  I  E  T  M  W  D  C  M  E  V  A  G  Q  T  M  C  L         p.960

          .         .         .          | 17        .         .    g.119811
 ACTGTCTTCATGATGGTCATGGTGATTGGAAATCTAGTG | GTTCTGAACCTCTTCTTGGCC    c.2940
 T  V  F  M  M  V  M  V  I  G  N  L  V   | V  L  N  L  F  L  A      p.980

          .         .         .         .         .         .       g.119871
 TTGCTTTTGAGTTCCTTCAGTTCTGACAATCTTGCTGCCACTGATGATGATAACGAAATG       c.3000
 L  L  L  S  S  F  S  S  D  N  L  A  A  T  D  D  D  N  E  M         p.1000

          .         .         .         .         .         .       g.119931
 AATAATCTCCAGATTGCTGTGGGAAGGATGCAGAAAGGAATCGATTTTGTTAAAAGAAAA       c.3060
 N  N  L  Q  I  A  V  G  R  M  Q  K  G  I  D  F  V  K  R  K         p.1020

          .         .         .         .         .         .       g.119991
 ATACGTGAATTTATTCAGAAAGCCTTTGTTAGGAAGCAGAAAGCTTTAGATGAAATTAAA       c.3120
 I  R  E  F  I  Q  K  A  F  V  R  K  Q  K  A  L  D  E  I  K         p.1040

          .         .         .         .         .         .       g.120051
 CCGCTTGAAGATCTAAATAATAAAAAAGACAGCTGTATTTCCAACCATACCACCATAGAA       c.3180
 P  L  E  D  L  N  N  K  K  D  S  C  I  S  N  H  T  T  I  E         p.1060

          .         .         .         .         .         .       g.120111
 ATAGGCAAAGACCTCAATTATCTCAAAGACGGAAATGGAACTACTAGTGGCATAGGCAGC       c.3240
 I  G  K  D  L  N  Y  L  K  D  G  N  G  T  T  S  G  I  G  S         p.1080

          .         .         .         .         .         .       g.120171
 AGTGTAGAAAAATATGTCGTGGATGAAAGTGATTACATGTCATTTATAAACAACCCTAGC       c.3300
 S  V  E  K  Y  V  V  D  E  S  D  Y  M  S  F  I  N  N  P  S         p.1100

          .         .         .         .         .         .       g.120231
 CTCACTGTGACAGTACCAATTGCTGTTGGAGAATCTGACTTTGAAAATTTAAATACTGAA       c.3360
 L  T  V  T  V  P  I  A  V  G  E  S  D  F  E  N  L  N  T  E         p.1120

          .         .         .          | 18        .         .    g.130762
 GAATTCAGCAGCGAGTCAGATATGGAGGAAAGCAAAGAG | AAGCTAAATGCAACTAGTTCA    c.3420
 E  F  S  S  E  S  D  M  E  E  S  K  E   | K  L  N  A  T  S  S      p.1140

          .         .         .         .         .         .       g.130822
 TCTGAAGGCAGCACGGTTGATATTGGAGCTCCCGCCGAGGGAGAACAGCCTGAGGTTGAA       c.3480
 S  E  G  S  T  V  D  I  G  A  P  A  E  G  E  Q  P  E  V  E         p.1160

          .         .         .         . | 19       .         .    g.132835
 CCTGAGGAATCCCTTGAACCTGAAGCCTGTTTTACAGAAG | ACTGTGTACGGAAGTTCAAG    c.3540
 P  E  E  S  L  E  P  E  A  C  F  T  E  D |   C  V  R  K  F  K      p.1180

          .         .         .         .         .         .       g.132895
 TGTTGTCAGATAAGCATAGAAGAAGGCAAAGGGAAACTCTGGTGGAATTTGAGGAAAACA       c.3600
 C  C  Q  I  S  I  E  E  G  K  G  K  L  W  W  N  L  R  K  T         p.1200

          .         .         .         .         .         .       g.132955
 TGCTATAAGATAGTGGAGCACAATTGGTTCGAAACCTTCATTGTCTTCATGATTCTGCTG       c.3660
 C  Y  K  I  V  E  H  N  W  F  E  T  F  I  V  F  M  I  L  L         p.1220

          .      | 20  .         .         .         .         .    g.135769
 AGCAGTGGGGCTCTG | GCCTTTGAAGATATATACATTGAGCAGCGAAAAACCATTAAGACC    c.3720
 S  S  G  A  L   | A  F  E  D  I  Y  I  E  Q  R  K  T  I  K  T      p.1240

          .         .         .         .         .         .       g.135829
 ATGTTAGAATATGCTGACAAGGTTTTCACTTACATATTCATTCTGGAAATGCTGCTAAAG       c.3780
 M  L  E  Y  A  D  K  V  F  T  Y  I  F  I  L  E  M  L  L  K         p.1260

          .         .         .         .         .         .       g.135889
 TGGGTTGCATATGGTTTTCAAGTGTATTTTACCAATGCCTGGTGCTGGCTAGACTTCCTG       c.3840
 W  V  A  Y  G  F  Q  V  Y  F  T  N  A  W  C  W  L  D  F  L         p.1280

           | 21        .         .         .         .         .    g.138874
 ATTGTTGAT | GTCTCACTGGTTAGCTTAACTGCAAATGCCTTGGGTTACTCAGAACTTGGT    c.3900
 I  V  D   | V  S  L  V  S  L  T  A  N  A  L  G  Y  S  E  L  G      p.1300

          .         .         .         .         .         .       g.138934
 GCCATCAAATCCCTCAGAACACTAAGAGCTCTGAGGCCACTGAGAGCTTTGTCCCGGTTT       c.3960
 A  I  K  S  L  R  T  L  R  A  L  R  P  L  R  A  L  S  R  F         p.1320

          .   | 22     .         .         .         .         .    g.140331
 GAAGGAATGAGG | GTTGTTGTAAATGCTCTTTTAGGAGCCATTCCATCTATCATGAATGTA    c.4020
 E  G  M  R   | V  V  V  N  A  L  L  G  A  I  P  S  I  M  N  V      p.1340

          .         .         .         .         .         .       g.140391
 CTTCTGGTTTGTCTGATCTTTTGGCTAATATTCAGTATCATGGGAGTGAATCTCTTTGCT       c.4080
 L  L  V  C  L  I  F  W  L  I  F  S  I  M  G  V  N  L  F  A         p.1360

          .         .         .         .         .         .       g.140451
 GGCAAGTTTTACCATTGTATTAATTACACCACTGGAGAGATGTTTGATGTAAGCGTGGTC       c.4140
 G  K  F  Y  H  C  I  N  Y  T  T  G  E  M  F  D  V  S  V  V         p.1380

          .         .         .         .         .         .       g.140511
 AACAACTACAGTGAGTGCAAAGCTCTCATTGAGAGCAATCAAACTGCCAGGTGGAAAAAT       c.4200
 N  N  Y  S  E  C  K  A  L  I  E  S  N  Q  T  A  R  W  K  N         p.1400

          .         .         .         .         .     | 23   .    g.143201
 GTGAAAGTAAACTTTGATAACGTAGGACTTGGATATCTGTCTCTACTTCAAGTA | GCCACG    c.4260
 V  K  V  N  F  D  N  V  G  L  G  Y  L  S  L  L  Q  V   | A  T      p.1420

          .         .         .         .         | 24         .    g.146202
 TTTAAGGGATGGATGGATATTATGTATGCAGCTGTTGATTCACGAAAT | GTAGAATTACAA    c.4320
 F  K  G  W  M  D  I  M  Y  A  A  V  D  S  R  N   | V  E  L  Q      p.1440

          .         .         .         .         .         .       g.146262
 CCCAAGTATGAAGACAACCTGTACATGTATCTTTATTTTGTCATCTTTATTATTTTTGGT       c.4380
 P  K  Y  E  D  N  L  Y  M  Y  L  Y  F  V  I  F  I  I  F  G         p.1460

          .         .         .         .         .         .       g.146322
 TCATTCTTTACCTTGAATCTTTTCATTGGTGTCATCATAGATAACTTCAACCAACAGAAA       c.4440
 S  F  F  T  L  N  L  F  I  G  V  I  I  D  N  F  N  Q  Q  K         p.1480

        | 25 .         .         .         .         .         .    g.146745
 AAGAAG | TTTGGAGGTCAAGACATTTTTATGACAGAAGAACAGAAGAAATACTACAATGCA    c.4500
 K  K   | F  G  G  Q  D  I  F  M  T  E  E  Q  K  K  Y  Y  N  A      p.1500

          .         .         .         .         .  | 26      .    g.152353
 ATGAAAAAACTGGGTTCAAAGAAACCACAAAAACCCATACCTCGACCTGCT | AACAAATTC    c.4560
 M  K  K  L  G  S  K  K  P  Q  K  P  I  P  R  P  A   | N  K  F      p.1520

          .         .         .         .         .         .       g.152413
 CAAGGAATGGTCTTTGATTTTGTAACCAAACAAGTCTTTGATATCAGCATCATGATCCTC       c.4620
 Q  G  M  V  F  D  F  V  T  K  Q  V  F  D  I  S  I  M  I  L         p.1540

          .         .         .         .         .         .       g.152473
 ATCTGCCTTAACATGGTCACCATGATGGTGGAAACCGATGACCAGAGTCAAGAAATGACA       c.4680
 I  C  L  N  M  V  T  M  M  V  E  T  D  D  Q  S  Q  E  M  T         p.1560

          .         .         .         .         .         .       g.152533
 AACATTCTGTACTGGATTAATCTGGTGTTTATTGTTCTGTTCACTGGAGAATGTGTGCTG       c.4740
 N  I  L  Y  W  I  N  L  V  F  I  V  L  F  T  G  E  C  V  L         p.1580

          .         .         .         .         .         .       g.152593
 AAACTGATCTCTCTTCGTTACTACTATTTCACTATTGGATGGAATATTTTTGATTTTGTG       c.4800
 K  L  I  S  L  R  Y  Y  Y  F  T  I  G  W  N  I  F  D  F  V         p.1600

          .         .   | 27     .         .         .         .    g.154265
 GTGGTCATTCTCTCCATTGTAG | GAATGTTTCTGGCTGAACTGATAGAAAAGTATTTTGTG    c.4860
 V  V  I  L  S  I  V  G |   M  F  L  A  E  L  I  E  K  Y  F  V      p.1620

          .         .         .         .         .         .       g.154325
 TCCCCTACCCTGTTCCGAGTGATCCGTCTTGCCAGGATTGGCCGAATCCTACGTCTGATC       c.4920
 S  P  T  L  F  R  V  I  R  L  A  R  I  G  R  I  L  R  L  I         p.1640

          .         .         .         .         .         .       g.154385
 AAAGGAGCAAAGGGGATCCGCACGCTGCTCTTTGCTTTGATGATGTCCCTTCCTGCGTTG       c.4980
 K  G  A  K  G  I  R  T  L  L  F  A  L  M  M  S  L  P  A  L         p.1660

          .         .         .         .         .         .       g.154445
 TTTAACATCGGCCTCCTTCTTTTCCTGGTCATGTTCATCTACGCCATCTTTGGGATGTCC       c.5040
 F  N  I  G  L  L  L  F  L  V  M  F  I  Y  A  I  F  G  M  S         p.1680

          .         .         .         .         .         .       g.154505
 AATTTTGCCTATGTTAAGAGGGAAGTTGGGATCGATGACATGTTCAACTTTGAGACCTTT       c.5100
 N  F  A  Y  V  K  R  E  V  G  I  D  D  M  F  N  F  E  T  F         p.1700

          .         .         .         .         .         .       g.154565
 GGCAACAGCATGATCTGCCTGTTCCAAATTACAACCTCTGCTGGCTGGGATGGATTGCTA       c.5160
 G  N  S  M  I  C  L  F  Q  I  T  T  S  A  G  W  D  G  L  L         p.1720

          .         .         .         .         .         .       g.154625
 GCACCTATTCTTAATAGTGGACCTCCAGACTGTGACCCTGACAAAGATCACCCTGGAAGC       c.5220
 A  P  I  L  N  S  G  P  P  D  C  D  P  D  K  D  H  P  G  S         p.1740

          .         .         .         .         .         .       g.154685
 TCAGTTAAAGGAGACTGTGGGAACCCATCTGTTGGGATTTTCTTTTTTGTCAGTTACATC       c.5280
 S  V  K  G  D  C  G  N  P  S  V  G  I  F  F  F  V  S  Y  I         p.1760

          .         .         .         .         .         .       g.154745
 ATCATATCCTTCCTGGTTGTGGTGAACATGTACATCGCGGTCATCCTGGAGAACTTCAGT       c.5340
 I  I  S  F  L  V  V  V  N  M  Y  I  A  V  I  L  E  N  F  S         p.1780

          .         .         .         .         .         .       g.154805
 GTTGCTACTGAAGAAAGTGCAGAGCCTCTGAGTGAGGATGACTTTGAGATGTTCTATGAG       c.5400
 V  A  T  E  E  S  A  E  P  L  S  E  D  D  F  E  M  F  Y  E         p.1800

          .         .         .         .         .         .       g.154865
 GTTTGGGAGAAGTTTGATCCCGATGCGACCCAGTTTATAGAGTTTGCCAAACTTTCTGAT       c.5460
 V  W  E  K  F  D  P  D  A  T  Q  F  I  E  F  A  K  L  S  D         p.1820

          .         .         .         .         .         .       g.154925
 TTTGCAGATGCCCTGGATCCTCCTCTTCTCATAGCAAAACCCAACAAAGTCCAGCTCATT       c.5520
 F  A  D  A  L  D  P  P  L  L  I  A  K  P  N  K  V  Q  L  I         p.1840

          .         .         .         .         .         .       g.154985
 GCCATGGATCTGCCCATGGTGAGTGGTGACCGGATCCACTGTCTTGACATCTTATTTGCT       c.5580
 A  M  D  L  P  M  V  S  G  D  R  I  H  C  L  D  I  L  F  A         p.1860

          .         .         .         .         .         .       g.155045
 TTTACAAAGCGTGTTTTGGGTGAGAGTGGAGAGATGGATGCCCTTCGAATACAGATGGAA       c.5640
 F  T  K  R  V  L  G  E  S  G  E  M  D  A  L  R  I  Q  M  E         p.1880

          .         .         .         .         .         .       g.155105
 GAGCGATTCATGGCATCAAACCCCTCCAAAGTCTCTTATGAGCCCATTACGACCACGTTG       c.5700
 E  R  F  M  A  S  N  P  S  K  V  S  Y  E  P  I  T  T  T  L         p.1900

          .         .         .         .         .         .       g.155165
 AAACGCAAACAAGAGGAGGTGTCTGCTATTATTATCCAGAGGGCTTACAGACGCTACCTC       c.5760
 K  R  K  Q  E  E  V  S  A  I  I  I  Q  R  A  Y  R  R  Y  L         p.1920

          .         .         .         .         .         .       g.155225
 TTGAAGCAAAAAGTTAAAAAGGTATCAAGTATATACAAGAAAGACAAAGGCAAAGAATGT       c.5820
 L  K  Q  K  V  K  K  V  S  S  I  Y  K  K  D  K  G  K  E  C         p.1940

          .         .         .         .         .         .       g.155285
 GATGGAACACCCATCAAAGAAGATACTCTCATTGATAAACTGAATGAGAATTCAACTCCA       c.5880
 D  G  T  P  I  K  E  D  T  L  I  D  K  L  N  E  N  S  T  P         p.1960

          .         .         .         .         .         .       g.155345
 GAGAAAACCGATATGACGCCTTCCACCACGTCTCCACCCTCGTATGATAGTGTGACCAAA       c.5940
 E  K  T  D  M  T  P  S  T  T  S  P  P  S  Y  D  S  V  T  K         p.1980

          .         .         .         .         .         .       g.155405
 CCAGAAAAAGAAAAATTTGAAAAAGACAAATCAGAAAAGGAAGACAAAGGGAAAGATATC       c.6000
 P  E  K  E  K  F  E  K  D  K  S  E  K  E  D  K  G  K  D  I         p.2000

          .                                                         g.155423
 AGGGAAAGTAAAAAGTAA                                                 c.6018
 R  E  S  K  K  X                                                   p.2005

          .         .         .         .         .         .       g.155483
 aaagaaaccaagaattttccattttgtgatcaattgtttacagcccgtgatggtgatgtg       c.*60

          .         .         .         .         .         .       g.155543
 tttgtgtcaacaggactcccacaggaggtctatgccaaactgactgtttttacaaatgta       c.*120

          .         .         .         .         .         .       g.155603
 tacttaaggtcagtgcctataacaagacagagacctctggtcagcaaactggaactcagt       c.*180

          .         .         .         .         .         .       g.155663
 aaactggagaaatagtatcgatgggaggtttctattttcacaaccagctgacactgctga       c.*240

          .         .         .         .         .         .       g.155723
 agagcagaggcgtaatggctactcagacgataggaaccaatttaaaggggggagggaagt       c.*300

          .         .         .         .         .         .       g.155783
 taaatttttatgtaaattcaacatgtgacacttgataatagtaattgtcaccagtgttta       c.*360

          .         .         .         .         .         .       g.155843
 tgttttaactgccacacctgccatatttttacaaaacgtgtgctgtgaatttatcacttt       c.*420

          .         .         .         .         .         .       g.155903
 tctttttaattcacaggttgtttactattatatgtgactatttttgtaaatgggtttgtg       c.*480

          .         .         .         .         .         .       g.155963
 tttggggagagggattaaagggagggaattctacatttctctattgtattgtataactgg       c.*540

          .         .         .         .         .         .       g.156023
 atatattttaaatggaggcatgctgcaattctcattcacacataaaaaaatcacatcaca       c.*600

          .         .         .         .         .         .       g.156083
 aaagggaagagtttacttcttgtttcaggatgtttttagatttttgaggtgcttaaatag       c.*660

          .         .         .         .         .         .       g.156143
 ctattcgtatttttaaggtgtctcatccagaaaaaatttaatgtgcctgtaaatgttcca       c.*720

          .         .         .         .         .         .       g.156203
 tagaatcacaagcattaaagagttgttttatttttacataacccattaaatgtacatgta       c.*780

          .         .         .         .         .         .       g.156263
 tatatgtatatatgtatatgtgcgtgtatatacatatatatgtatacacacatgcacaca       c.*840

          .         .         .         .         .         .       g.156323
 cagagatatacacataccattacattgtcattcacagtcccagcagcatgactatcacat       c.*900

          .         .         .         .         .         .       g.156383
 ttttgataagtgtcctttggcataaaataaaaatatcctatcagtcctttctaagaagcc       c.*960

          .         .         .         .         .         .       g.156443
 tgaattgaccaaaaaacatccccaccaccactttataaagttgattctgctttatcctgc       c.*1020

          .         .         .         .         .         .       g.156503
 agtattgtttagccatcttctgctcttggtaaggttgacatagtatatgtcaatttaaaa       c.*1080

          .         .         .         .         .         .       g.156563
 aataaaagtctgctttgtaaatagtaattttacccagtggtgcatgtttgagcaaacaaa       c.*1140

          .         .         .         .         .         .       g.156623
 aatgatgatttaagcacactacttattgcatcaaatatgtaccacagtaagtatagtttg       c.*1200

          .         .         .         .         .         .       g.156683
 caagctttcaacaggtaatatgatgtaattggttccattatagtttgaagctgtcactgc       c.*1260

          .         .         .         .         .         .       g.156743
 tgcatgtttatcttgcctatgctgctgtatcttattccttccactgttcagaagtctaat       c.*1320

          .         .         .         .         .         .       g.156803
 atgggaagccatatatcagtggtaaagtgaagcaaattgttctaccaagacctcattctt       c.*1380

          .         .         .         .         .         .       g.156863
 catgtcattaagcaataggttgcagcaaacaaggaagagcttcttgctttttattcttcc       c.*1440

          .         .         .         .         .         .       g.156923
 aaccttaattgaacactcaatgatgaaaagcccgactgtacaaacatgttgcaagctgct       c.*1500

          .         .         .         .         .         .       g.156983
 taaatctgtttaaaatatatggttagagttttctaagaaaatataaatactgtaaaaagt       c.*1560

          .         .         .         .         .         .       g.157043
 tcattttattttatttttcagccttttgtacgtaaaatgagaaattaaaagtatcttcag       c.*1620

          .         .         .         .         .         .       g.157103
 gtggatgtcacagtcactattgttagtttctgttcctagcacttttaaattgaagcactt       c.*1680

          .         .         .         .         .         .       g.157163
 cacaaaataagaagcaaggactaggatgcagtgtaggtttctgcttttttattagtactg       c.*1740

          .         .         .         .         .         .       g.157223
 taaacttgcacacatttcaatgtgaaacaaatctcaaactgagttcaatgtttatttgct       c.*1800

          .         .         .         .         .         .       g.157283
 ttcaatagtaatgccttatcattgaaagaggcttaaagaaaaaaaaaatcagctgatact       c.*1860

          .         .         .         .         .         .       g.157343
 cttggcattgcttgaatccaatgtttccacctagtctttttattcagtaatcatcagtct       c.*1920

          .         .         .         .         .         .       g.157403
 tttccaatgtttgtttacacagatagatcttattgacccatatggcactagaactgtatc       c.*1980

          .         .         .         .         .         .       g.157463
 agatataatatgggatcccagctttttttcctctcccacaaaaccaggtagtgaagttat       c.*2040

          .         .         .         .         .         .       g.157523
 attaccagttacagcaaaatactttgtgtttcacaagcaacaataaatgtagattcttta       c.*2100

          .         .         .         .         .         .       g.157583
 tactgaagctattgacttgtagtgtgttggtgaaatgcatgcaggaaaatgctgttacca       c.*2160

          .         .         .         .         .         .       g.157643
 taaagaacggtaaaccacattacaatcaagccaaaagaataaaggtttcgcttttgtttt       c.*2220

          .         .         .         .         .         .       g.157703
 tgtatttaattgttgtctttgtttctatctttgaaatgccatttaaaggtagatttctat       c.*2280

          .         .         .         .         .         .       g.157763
 catgtaaaaataatctatctgaaaaacaaatgtaaagaacacacattaattactataatt       c.*2340

          .         .         .         .         .         .       g.157823
 catctttcaattttttcatggaatggaagttaattaagaagagtgtattggataactact       c.*2400

          .         .         .         .         .         .       g.157883
 ttaatattggccaaaaagctagatatggcatcaggtagactagtggaaagttacaaaaat       c.*2460

          .         .                                               g.157909
 taataaaaaattgactaacattttaa                                         c.*2486

 (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 Sodium channel, voltage-gated, type II, alpha subunit 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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