SH3 and multiple ankyrin repeat domains 2 (SHANK2) - coding DNA reference sequence

(used for variant description)

(last modified September 14, 2017)


This file was created to facilitate the description of sequence variants on transcript NM_012309.3 in the SHANK2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_042866.1, covering SHANK2 transcript NM_012309.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5018
         gtctggaaatctctccaggcaccctgctttggccctctagaatacagacagt       c.-61

 .         .         .         .         .        | 02.             g.82436
 tcctgctctaagaggccatctgtgaggctcagtctcccaacacctctg | acacaggcagcc    c.-1

          .         .         .         .         .         .       g.82496
 ATGCCGCGCAGCCCAACATCCAGCGAGGACGAGATGGCCCAGAGCTTCTCCGACTACTCC       c.60
 M  P  R  S  P  T  S  S  E  D  E  M  A  Q  S  F  S  D  Y  S         p.20

          .         .         .         .         .         .       g.82556
 GTGGGGTCGGAGTCAGACAGCTCCAAAGAAGAGACCATCTATGACACGATCCGGGCCACT       c.120
 V  G  S  E  S  D  S  S  K  E  E  T  I  Y  D  T  I  R  A  T         p.40

          .         .         .         .         .         .       g.82616
 GCGGAGAAGCCGGGCGGTGCCAGGACGGAGGAGAGCCAGGGCAACACGCTGGTGATCCGC       c.180
 A  E  K  P  G  G  A  R  T  E  E  S  Q  G  N  T  L  V  I  R         p.60

          .         .        | 03.         .         .         .    g.110763
 GTGGTCATCCATGACCTGCAGCAGACG | AAATGCATTCGATTTAACCCGGATGCCACAGTG    c.240
 V  V  I  H  D  L  Q  Q  T   | K  C  I  R  F  N  P  D  A  T  V      p.80

          .         .         .         .         .         .       g.110823
 TGGGTTGCAAAGCAGCGGATCCTGTGTACATTAACCCAGAGTTTGAAAGATGTCCTGAAC       c.300
 W  V  A  K  Q  R  I  L  C  T  L  T  Q  S  L  K  D  V  L  N         p.100

          .         .         .         .         .         .       g.110883
 TACGGCCTGTTCCAGCCGGCCAGCAATGGGCGTGACGGCAAGTTCCTGGATGAGGAGCGG       c.360
 Y  G  L  F  Q  P  A  S  N  G  R  D  G  K  F  L  D  E  E  R         p.120

          .         .         .         .         .  | 04      .    g.116407
 CTCCTGCGCGAGTACCCACAGCCCGTGGGTGAGGGCGTTCCTTCCCTGGAG | TTTCGATAC    c.420
 L  L  R  E  Y  P  Q  P  V  G  E  G  V  P  S  L  E   | F  R  Y      p.140

          .         .         .         .         .         .       g.116467
 AAGAAGCGGGTGTATAAACAAGCCAGTCTCGATGAGAAACAGTTGGCCAAGCTCCACACG       c.480
 K  K  R  V  Y  K  Q  A  S  L  D  E  K  Q  L  A  K  L  H  T         p.160

     | 05    .         .         .         .         .         .    g.119770
 AAG | ACCAATCTGAAGAAATGCATGGATCACATTCAGCATCGCTTGGTGGAGAAGATCACC    c.540
 K   | T  N  L  K  K  C  M  D  H  I  Q  H  R  L  V  E  K  I  T      p.180

          .         .         .         .         .   | 06     .    g.135082
 AAGATGCTGGACCGAGGCCTGGATCCCAATTTCCACGACCCGGAGACCGGAG | AGACCCCC    c.600
 K  M  L  D  R  G  L  D  P  N  F  H  D  P  E  T  G  E |   T  P      p.200

          .         .         .         .         .         .       g.135142
 CTGACCTTAGCCGCTCAGCTGGACGACTCTGTGGAGGTCATCAAAGCTCTCAAAAATGGT       c.660
 L  T  L  A  A  Q  L  D  D  S  V  E  V  I  K  A  L  K  N  G         p.220

          .         .         .         .         .         .       g.135202
 GGAGCTCACCTGGACTTCCGTGCCAAAGATGGGATGACCGCCCTACACAAAGCTGCCCGA       c.720
 G  A  H  L  D  F  R  A  K  D  G  M  T  A  L  H  K  A  A  R         p.240

          .         .     | 07   .         .         .         .    g.137209
 GCGAGGAACCAAGTTGCCCTGAAG | ACCCTTTTAGAGCTTGGTGCATCCCCAGATTATAAA    c.780
 A  R  N  Q  V  A  L  K   | T  L  L  E  L  G  A  S  P  D  Y  K      p.260

          .         .         .         .         .         .       g.137269
 GACAGTTACGGCCTCACCCCGCTGTATCACACAGCCATCGTCGGAGGTGATCCCTACTGC       c.840
 D  S  Y  G  L  T  P  L  Y  H  T  A  I  V  G  G  D  P  Y  C         p.280

          .         .         .         .         .         .       g.137329
 TGCGAGCTTCTCCTGCACGAACACGCCACTGTGTGCTGCAAAGATGAGAACGGCTGGCAC       c.900
 C  E  L  L  L  H  E  H  A  T  V  C  C  K  D  E  N  G  W  H         p.300

          .   | 08     .         .         .         .         .    g.154535
 GAGATCCACCAG | GCCTGCAGGTACGGGCACGTGCAGCACCTGGAGCACCTGCTGTTCTAC    c.960
 E  I  H  Q   | A  C  R  Y  G  H  V  Q  H  L  E  H  L  L  F  Y      p.320

          .         .         .         .         .         .       g.154595
 GGGGCAGACATGAGTGCCCAGAATGCCTCGGGGAACACGGCCTTGCACATCTGCGCCCTC       c.1020
 G  A  D  M  S  A  Q  N  A  S  G  N  T  A  L  H  I  C  A  L         p.340

           | 09        .         .         .         .         .    g.173255
 TACAACCAG | GACAGCTGTGCAAGAGTGCTTCTGTTTCGAGGCGGAAATAAGGAGTTAAAA    c.1080
 Y  N  Q   | D  S  C  A  R  V  L  L  F  R  G  G  N  K  E  L  K      p.360

          .         .        | 10.         .         .         .    g.233228
 AACTACAACAGCCAGACTCCATTTCAG | GTGGCCATAATAGCAGGCAACTTTGAGCTGGCA    c.1140
 N  Y  N  S  Q  T  P  F  Q   | V  A  I  I  A  G  N  F  E  L  A      p.380

          .         .         .     | 11   .         .         .    g.309106
 GAATACATCAAGAACCACAAGGAAACAGACATTG | TGCCCTTCCGAGAGGCCCCGGCGTAC    c.1200
 E  Y  I  K  N  H  K  E  T  D  I  V |   P  F  R  E  A  P  A  Y      p.400

          .         .         .         .         .         .       g.309166
 TCCAACCGCCGGCGGCGGCCCCCCAACACGCTGGCCGCCCCCCGGGTCCTGCTGCGCTCC       c.1260
 S  N  R  R  R  R  P  P  N  T  L  A  A  P  R  V  L  L  R  S         p.420

          .         .         .         .         .         .       g.309226
 AACAGTGACAACAACCTCAATGCCAGCGCTCCCGACTGGGCCGTCTGCTCCACGGCCACC       c.1320
 N  S  D  N  N  L  N  A  S  A  P  D  W  A  V  C  S  T  A  T         p.440

          .         .         .         .         .         .       g.309286
 TCGCACCGCAGCCTGTCACCCCAGCTGCTGCAGCAGATGCCCAGCAAGCCCGAGGGGGCC       c.1380
 S  H  R  S  L  S  P  Q  L  L  Q  Q  M  P  S  K  P  E  G  A         p.460

          .         .         .         .         .         .       g.309346
 GCGAAGACCATTGGGAGCTACGTGCCCGGGCCCCGCAGCCGGTCCCCATCGCTCAACAGG       c.1440
 A  K  T  I  G  S  Y  V  P  G  P  R  S  R  S  P  S  L  N  R         p.480

          .         .         .         .         .    | 12    .    g.322598
 CTGGGCGGCGCAGGCGAGGACGGCAAGAGGCCGCAGCCTCTCTGGCATGTCGG | GTCGCCT    c.1500
 L  G  G  A  G  E  D  G  K  R  P  Q  P  L  W  H  V  G  |  S  P      p.500

          .         .         .         .         .         .       g.322658
 TTTGCTCTTGGTGCCAACAAGGACTCACTCTCGGCCTTCGAGTACCCGGGGCCCAAGCGG       c.1560
 F  A  L  G  A  N  K  D  S  L  S  A  F  E  Y  P  G  P  K  R         p.520

          .         .         .         .         .         .       g.322718
 AAGCTCTACAGTGCCGTGCCCGGGAGGCTCTTCGTCGCTGTCAAGCCATACCAACCCCAA       c.1620
 K  L  Y  S  A  V  P  G  R  L  F  V  A  V  K  P  Y  Q  P  Q         p.540

          .         .         .         .    | 13    .         .    g.331223
 GTGGACGGCGAGATCCCCCTTCACCGCGGTGACAGGGTCAAAG | TTCTGAGCATCGGTGAA    c.1680
 V  D  G  E  I  P  L  H  R  G  D  R  V  K  V |   L  S  I  G  E      p.560

          .         .         .         .         .         .       g.331283
 GGGGGCTTCTGGGAAGGCAGCGCCCGCGGCCACATCGGATGGTTTCCGGCGGAGTGCGTG       c.1740
 G  G  F  W  E  G  S  A  R  G  H  I  G  W  F  P  A  E  C  V         p.580

          .         .         .        | 14.         .         .    g.431022
 GAGGAGGTCCAGTGTAAGCCCAGGGACAGCCAGGCAG | AAACCCGCGCTGACCGCAGCAAG    c.1800
 E  E  V  Q  C  K  P  R  D  S  Q  A  E |   T  R  A  D  R  S  K      p.600

          .         .         .         .         .    | 15    .    g.468091
 AAGCTTTTCAGGCACTACACCGTGGGCTCCTATGACAGCTTCGACACTTCCAG | TGACTGC    c.1860
 K  L  F  R  H  Y  T  V  G  S  Y  D  S  F  D  T  S  S  |  D  C      p.620

          .         .         .         .         .         .       g.468151
 ATTATTGAGGAGAAGACGGTGGTCCTGCAGAAAAAAGACAATGAGGGCTTTGGATTCGTG       c.1920
 I  I  E  E  K  T  V  V  L  Q  K  K  D  N  E  G  F  G  F  V         p.640

          .       | 16 .         .         .         .         .    g.469854
 CTTCGAGGGGCCAAAG | CTGACACACCCATTGAAGAATTCACACCAACACCGGCTTTCCCA    c.1980
 L  R  G  A  K  A |   D  T  P  I  E  E  F  T  P  T  P  A  F  P      p.660

          .         .         .         .         .         .       g.469914
 GCCCTACAGTACCTGGAGTCCGTGGATGAAGGTGGGGTGGCGTGGCAAGCCGGACTAAGG       c.2040
 A  L  Q  Y  L  E  S  V  D  E  G  G  V  A  W  Q  A  G  L  R         p.680

          .         .  | 17      .         .         .         .    g.626870
 ACCGGGGACTTCTTGATTGAG | GTTAACAATGAGAATGTTGTCAAAGTCGGCCACAGGCAG    c.2100
 T  G  D  F  L  I  E   | V  N  N  E  N  V  V  K  V  G  H  R  Q      p.700

          .         .         .         .         .         .       g.626930
 GTGGTGAACATGATCCGGCAGGGAGGGAATCACCTGGTCCTTAAGGTGGTCACGGTGACC       c.2160
 V  V  N  M  I  R  Q  G  G  N  H  L  V  L  K  V  V  T  V  T         p.720

          .         .         .        | 18.         .         .    g.627499
 AGGAATCTGGACCCCGACGACACCGCCAGGAAGAAAG | CTCCCCCGCCTCCAAAGCGGGCA    c.2220
 R  N  L  D  P  D  D  T  A  R  K  K  A |   P  P  P  P  K  R  A      p.740

          .         .         .         .         .         | 19    g.627833
 CCGACCACAGCCCTCACCCTGCGCTCCAAGTCCATGACCTCGGAGCTGGAGGAGCTCG | TG    c.2280
 P  T  T  A  L  T  L  R  S  K  S  M  T  S  E  L  E  E  L  V |       p.760

         | 20.         .         | 21         .         .         . g.637329
 GATAAAG | CCTCGGTCCGGAAGAAGAAGG | ATAAACCCGAGGAGATAGTCCCGGCCTCCAAG c.2340
 D  K  A |   S  V  R  K  K  K  D |   K  P  E  E  I  V  P  A  S  K   p.780

          .         .         .         .         .         .       g.637389
 CCCTCCCGCGCTGCTGAGAACATGGCTGTGGAACCGAGGGTGGCGACCATCAAGCAGCGG       c.2400
 P  S  R  A  A  E  N  M  A  V  E  P  R  V  A  T  I  K  Q  R         p.800

          .         .         .          | 22        .         .    g.639396
 CCCAGCAGCCGGTGCTTCCCGGCGGGCTCAGACATGAAC | TCTGTGTACGAACGCCAAGGA    c.2460
 P  S  S  R  C  F  P  A  G  S  D  M  N   | S  V  Y  E  R  Q  G      p.820

          .         .         .         .         .         .       g.639456
 ATCGCCGTGATGACGCCCACTGTTCCTGGGAGCCCAAAAGCCCCGTTTCTGGGCATCCCT       c.2520
 I  A  V  M  T  P  T  V  P  G  S  P  K  A  P  F  L  G  I  P         p.840

          .         .         .  | 23      .         .   | 24     . g.642050
 CGAGGTACGATGCGAAGGCAGAAATCAATAG | ACAGCAGAATCTTTCTATCAG | GAATAACA c.2580
 R  G  T  M  R  R  Q  K  S  I  D |   S  R  I  F  L  S  G |   I  T   p.860

          .         .         .         .         .         .       g.642110
 GAGGAAGAGCGGCAGTTTCTGGCTCCTCCAATGCTGAAGTTCACCAGAAGCCTGTCCATG       c.2640
 E  E  E  R  Q  F  L  A  P  P  M  L  K  F  T  R  S  L  S  M         p.880

          .         .         .         .         .         .       g.642170
 CCGGACACCTCTGAGGACATCCCCCCTCCACCGCAGTCTGTGCCCCCGTCCCCACCACCA       c.2700
 P  D  T  S  E  D  I  P  P  P  P  Q  S  V  P  P  S  P  P  P         p.900

          .         .         .         .         .         .       g.642230
 CCTTCCCCAACCACTTACAACTGCCCCAAGTCCCCAACTCCAAGAGTCTACGGGACGATT       c.2760
 P  S  P  T  T  Y  N  C  P  K  S  P  T  P  R  V  Y  G  T  I         p.920

          .         .         .         .         .         .       g.642290
 AAGCCTGCGTTCAATCAGAATTCTGCCGCCAAGGTGTCCCCCGCCACCAGGTCCGACACC       c.2820
 K  P  A  F  N  Q  N  S  A  A  K  V  S  P  A  T  R  S  D  T         p.940

          .         .         .         .         .         .       g.642350
 GTGGCCACCATGATGAGGGAGAAGGGGATGTACTTCAGGAGAGAGCTGGACCGCTACTCC       c.2880
 V  A  T  M  M  R  E  K  G  M  Y  F  R  R  E  L  D  R  Y  S         p.960

          .         .         .         .         .         .       g.642410
 TTGGACTCTGAAGACCTCTACAGTCGGAATGCCGGCCCGCAAGCCAACTTCCGCAACAAG       c.2940
 L  D  S  E  D  L  Y  S  R  N  A  G  P  Q  A  N  F  R  N  K         p.980

          .         .         .         .         .         .       g.642470
 AGAGGCCAGATGCCAGAAAACCCATACTCAGAGGTGGGGAAGATCGCCAGCAAAGCCGTC       c.3000
 R  G  Q  M  P  E  N  P  Y  S  E  V  G  K  I  A  S  K  A  V         p.1000

          .         .         .         .         .         .       g.642530
 TACGTCCCCGCCAAGCCCGCCAGGCGGAAGGGGATGCTGGTGAAGCAGTCCAACGTGGAG       c.3060
 Y  V  P  A  K  P  A  R  R  K  G  M  L  V  K  Q  S  N  V  E         p.1020

          .         .         .         .         .         .       g.642590
 GACAGCCCCGAGAAGACGTGCTCCATCCCTATCCCGACCATCATCGTGAAGGAGCCGTCC       c.3120
 D  S  P  E  K  T  C  S  I  P  I  P  T  I  I  V  K  E  P  S         p.1040

          .         .         .         .         .         .       g.642650
 ACCAGCAGCAGCGGCAAGAGCAGCCAGGGCAGCAGCATGGAGATCGACCCCCAGGCCCCG       c.3180
 T  S  S  S  G  K  S  S  Q  G  S  S  M  E  I  D  P  Q  A  P         p.1060

          .         .         .         .         .         .       g.642710
 GAGCCACCGAGCCAGCTGCGGCCTGACGAAAGCCTGACCGTCAGCAGCCCCTTTGCCGCC       c.3240
 E  P  P  S  Q  L  R  P  D  E  S  L  T  V  S  S  P  F  A  A         p.1080

          .         .         .         .         .         .       g.642770
 GCCATCGCCGGAGCCGTCCGCGACCGTGAGAAGCGGCTGGAAGCCAGGAGGAACTCCCCG       c.3300
 A  I  A  G  A  V  R  D  R  E  K  R  L  E  A  R  R  N  S  P         p.1100

          .         .         .         .         .         .       g.642830
 GCCTTCCTCTCCACAGACCTGGGGGATGAGGATGTGGGCCTGGGGCCACCCGCCCCCAGG       c.3360
 A  F  L  S  T  D  L  G  D  E  D  V  G  L  G  P  P  A  P  R         p.1120

          .         .         .         .         .         .       g.642890
 ACGCGGCCCTCCATGTTCCCCGAGGAGGGGGATTTTGCTGACGAGGACAGCGCTGAGCAG       c.3420
 T  R  P  S  M  F  P  E  E  G  D  F  A  D  E  D  S  A  E  Q         p.1140

          .         .         .         .         .         .       g.642950
 CTGTCATCCCCCATGCCGAGTGCCACGCCCAGGGAGCCCGAAAACCATTTCGTGGGTGGC       c.3480
 L  S  S  P  M  P  S  A  T  P  R  E  P  E  N  H  F  V  G  G         p.1160

          .         .         .         .         .         .       g.643010
 GCCGAGGCCAGTGCTCCGGGTGAGGCTGGGAGGCCGCTGAATTCCACGTCCAAAGCCCAG       c.3540
 A  E  A  S  A  P  G  E  A  G  R  P  L  N  S  T  S  K  A  Q         p.1180

          .         .         .         .         .         .       g.643070
 GGGCCCGAGAGCAGCCCAGCAGTGCCCTCCGCGAGCAGCGGCACAGCCGGCCCCGGGAAT       c.3600
 G  P  E  S  S  P  A  V  P  S  A  S  S  G  T  A  G  P  G  N         p.1200

          .         .         .         .         .         .       g.643130
 TATGTCCACCCACTCACAGGGCGGCTGCTTGATCCCAGCTCCCCGCTGGCCCTGGCACTC       c.3660
 Y  V  H  P  L  T  G  R  L  L  D  P  S  S  P  L  A  L  A  L         p.1220

          .         .         .         .         .         .       g.643190
 TCCGCAAGGGACCGAGCCATGAAGGAGTCTCAACAGGGACCCAAAGGGGAGGCCCCCAAG       c.3720
 S  A  R  D  R  A  M  K  E  S  Q  Q  G  P  K  G  E  A  P  K         p.1240

          .         .         .         .         .         .       g.643250
 GCCGACCTCAACAAACCTCTTTACATTGATACCAAAATGCGGCCCAGCCTGGATGCCGGC       c.3780
 A  D  L  N  K  P  L  Y  I  D  T  K  M  R  P  S  L  D  A  G         p.1260

          .         .         .         .         .         .       g.643310
 TTCCCTACGGTCACCAGGCAGAACACCCGGGGACCCCTGAGGCGGCAGGAGACGGAGAAC       c.3840
 F  P  T  V  T  R  Q  N  T  R  G  P  L  R  R  Q  E  T  E  N         p.1280

          .         .         .         .         .         .       g.643370
 AAGTACGAGACCGACCTGGGCCGAGACCGGAAAGGCGATGACAAGAAGAACATGCTGATC       c.3900
 K  Y  E  T  D  L  G  R  D  R  K  G  D  D  K  K  N  M  L  I         p.1300

          .         .         .         .         .         .       g.643430
 GACATCATGGACACGTCCCAGCAGAAGTCGGCTGGCCTGCTGATGGTGCACACCGTGGAC       c.3960
 D  I  M  D  T  S  Q  Q  K  S  A  G  L  L  M  V  H  T  V  D         p.1320

          .         .         .         .         .         .       g.643490
 GCCACTAAGCTGGACAACGCCCTGCAGGAAGAGGACGAGAAGGCAGAGGTGGAGATGAAG       c.4020
 A  T  K  L  D  N  A  L  Q  E  E  D  E  K  A  E  V  E  M  K         p.1340

          .         .         .         .         .         .       g.643550
 CCAGACAGCTCGCCGTCCGAGGTGCCAGAAGGTGTTTCCGAAACCGAAGGTGCTTTACAG       c.4080
 P  D  S  S  P  S  E  V  P  E  G  V  S  E  T  E  G  A  L  Q         p.1360

          .         .         .         .         .         .       g.643610
 ATCTCCGCTGCCCCCGAGCCCACCACCGTGCCCGGCAGAACCATCGTCGCGGTGGGCTCC       c.4140
 I  S  A  A  P  E  P  T  T  V  P  G  R  T  I  V  A  V  G  S         p.1380

          .         .         .         .         .         .       g.643670
 ATGGAAGAGGCGGTGATTTTGCCATTCCGCATCCCTCCTCCCCCTCTGGCATCCGTGGAC       c.4200
 M  E  E  A  V  I  L  P  F  R  I  P  P  P  P  L  A  S  V  D         p.1400

          .         .         .         .         .         .       g.643730
 TTGGATGAGGATTTTATTTTTACAGAGCCATTGCCTCCTCCCCTGGAATTTGCAAATAGT       c.4260
 L  D  E  D  F  I  F  T  E  P  L  P  P  P  L  E  F  A  N  S         p.1420

          .         .         .         .         .         .       g.643790
 TTTGATATCCCCGATGACCGGGCAGCTTCTGTCCCGGCTCTCTCAGACTTAGTGAAGCAG       c.4320
 F  D  I  P  D  D  R  A  A  S  V  P  A  L  S  D  L  V  K  Q         p.1440

          .         .         .         .         .         .       g.643850
 AAGAAAAGCGACACCCCTCAGTCCCCTTCGTTGAACTCCAGCCAACCAACCAACTCTGCA       c.4380
 K  K  S  D  T  P  Q  S  P  S  L  N  S  S  Q  P  T  N  S  A         p.1460

          .         .         .         .         .         .       g.643910
 GACAGCAAGAAGCCAGCCAGTCTTTCAAACTGTCTGCCTGCCTCATTCCTGCCACCCCCT       c.4440
 D  S  K  K  P  A  S  L  S  N  C  L  P  A  S  F  L  P  P  P         p.1480

          .         .         .         .         .         .       g.643970
 GAAAGCTTTGACGCCGTCGCCGACTCTGGGATCGAGGAGGTGGACAGCCGGAGTAGCAGC       c.4500
 E  S  F  D  A  V  A  D  S  G  I  E  E  V  D  S  R  S  S  S         p.1500

          .         .         .         .         .         .       g.644030
 GACCACCACCTCGAGACGACCAGCACTATCTCCACCGTGTCTAGCATCTCCACCCTGTCT       c.4560
 D  H  H  L  E  T  T  S  T  I  S  T  V  S  S  I  S  T  L  S         p.1520

          .         .         .         .         .         .       g.644090
 TCCGAAGGTGGAGAGAATGTGGACACCTGCACAGTCTATGCAGATGGGCAAGCATTTATG       c.4620
 S  E  G  G  E  N  V  D  T  C  T  V  Y  A  D  G  Q  A  F  M         p.1540

          .         .         .         .         .         .       g.644150
 GTTGACAAACCCCCAGTACCTCCTAAGCCAAAAATGAAGCCCATCATTCACAAAAGCAAT       c.4680
 V  D  K  P  P  V  P  P  K  P  K  M  K  P  I  I  H  K  S  N         p.1560

          .         .         .         .         .         .       g.644210
 GCACTTTATCAAGACGCGCTCGTGGAAGAAGATGTAGATAGCTTTGTTATCCCCCCGCCC       c.4740
 A  L  Y  Q  D  A  L  V  E  E  D  V  D  S  F  V  I  P  P  P         p.1580

          .         .         .         .         .         .       g.644270
 GCTCCCCCGCCCCCGCCGGGCAGTGCCCAGCCTGGGATGGCCAAGGTTCTCCAGCCAAGG       c.4800
 A  P  P  P  P  P  G  S  A  Q  P  G  M  A  K  V  L  Q  P  R         p.1600

          .         .         .         .         .         .       g.644330
 ACCTCCAAGTTGTGGGGCGACGTCACAGAGATCAAAAGCCCGATTCTCTCAGGCCCAAAG       c.4860
 T  S  K  L  W  G  D  V  T  E  I  K  S  P  I  L  S  G  P  K         p.1620

          .         .         .         .         .         .       g.644390
 GCAAACGTTATTAGTGAATTGAACTCTATCCTACAGCAAATGAACCGAGAGAAATTGGCA       c.4920
 A  N  V  I  S  E  L  N  S  I  L  Q  Q  M  N  R  E  K  L  A         p.1640

          .         .         .         .         .          | 25    g.656324
 AAGCCGGGGGAAGGACTGGATTCACCAATGGGAGCCAAGTCCGCCAGCCTCGCTCCAAG | A    c.4980
 K  P  G  E  G  L  D  S  P  M  G  A  K  S  A  S  L  A  P  R  |      p.1660

          .         .         .         .         .         .       g.656384
 AGCCCGGAGATCATGAGCACCATCTCAGGTACACGGAGCACGACGGTCACCTTCACTGTT       c.5040
 S  P  E  I  M  S  T  I  S  G  T  R  S  T  T  V  T  F  T  V         p.1680

          .         .         .         .         .         .       g.656444
 CGCCCCGGCACCTCCCAGCCCATCACCCTGCAGAGCCGGCCCCCCGACTATGAAAGCAGG       c.5100
 R  P  G  T  S  Q  P  I  T  L  Q  S  R  P  P  D  Y  E  S  R         p.1700

          .         .         .         .         .         .       g.656504
 ACCTCAGGAACAAGACGTGCCCCAAGCCCTGTGGTCTCGCCAACAGAGATGAACAAAGAG       c.5160
 T  S  G  T  R  R  A  P  S  P  V  V  S  P  T  E  M  N  K  E         p.1720

          .         .         .         .         .         .       g.656564
 ACCCTGCCCGCCCCCCTGTCTGCTGCCACCGCCTCTCCTTCTCCCGCTCTCTCAGATGTC       c.5220
 T  L  P  A  P  L  S  A  A  T  A  S  P  S  P  A  L  S  D  V         p.1740

          .         .         .         .         .         .       g.656624
 TTTAGCCTTCCAAGCCAGCCCCCTTCTGGGGATCTATTTGGCTTGAACCCAGCGGGACGC       c.5280
 F  S  L  P  S  Q  P  P  S  G  D  L  F  G  L  N  P  A  G  R         p.1760

          .         .         .         .         .         .       g.656684
 AGTAGGTCGCCATCCCCCTCGATACTGCAACAGCCAATCTCAAATAAGCCTTTTACAACT       c.5340
 S  R  S  P  S  P  S  I  L  Q  Q  P  I  S  N  K  P  F  T  T         p.1780

          .         .         .         .         .         .       g.656744
 AAACCTGTCCACCTGTGGACTAAACCAGATGTGGCCGATTGGCTGGAAAGTCTAAACTTG       c.5400
 K  P  V  H  L  W  T  K  P  D  V  A  D  W  L  E  S  L  N  L         p.1800

          .         .         .         .         .         .       g.656804
 GGTGAACATAAAGAGGCCTTCATGGACAATGAGATCGATGGCAGTCACTTACCAAACCTG       c.5460
 G  E  H  K  E  A  F  M  D  N  E  I  D  G  S  H  L  P  N  L         p.1820

          .         .         .         .         .         .       g.656864
 CAGAAGGAGGACCTCATCGATCTTGGGGTAACTCGAGTCGGGCACAGAATGAACATAGAA       c.5520
 Q  K  E  D  L  I  D  L  G  V  T  R  V  G  H  R  M  N  I  E         p.1840

          .         .         .                                     g.656894
 AGGGCTTTGAAACAGCTGCTGGACAGATAA                                     c.5550
 R  A  L  K  Q  L  L  D  R  X                                       p.1849

          .         .         .         .         .         .       g.656954
 ggacggctgctctccacctcgcagactgctcttgttataagtagagatgggctcgtgctg       c.*60

          .         .         .         .         .         .       g.657014
 aaacatctgaatgccaagcgaagtctgtgagcatcaaccccactccatgggtttgtctcc       c.*120

          .         .         .         .         .         .       g.657074
 tggtacccaaagaaatactgagttgtgtccacaacatggctgggtcttcagacccctggc       c.*180

          .         .         .         .         .         .       g.657134
 tcaccatgtgggtgtcttgggcagtttctatcacacatgggacaaggggagggagttttt       c.*240

          .         .         .         .         .         .       g.657194
 ctaacatggaaaaagattctcagcctgccgcccagcatgcaggtggcctcgctttgccgg       c.*300

          .         .         .         .         .         .       g.657254
 gtccgagaggctccccgtcaattttgcacgggatcctagctcttgtaggcagacaccagt       c.*360

          .         .         .         .         .         .       g.657314
 gcactctagatacctcctgagacctccgtcctctgctttccgggcagctctcaccacccc       c.*420

          .         .         .         .         .         .       g.657374
 aggccccggcatgaggcctttcctcagtcctgtggcctctcagaggacacctgatgctca       c.*480

          .         .         .         .         .         .       g.657434
 cctgcccctctttctcctgcacttggcttgcagtgagatgctcccagatgcatttgtcca       c.*540

          .         .         .         .         .         .       g.657494
 gtgccccatcatgggcctgaaaggcagagaaactttttcctacacagattcttttcccca       c.*600

          .         .         .         .         .         .       g.657554
 tctcctcctgtggtttgcatccatggctctttggccatgaggttcctggcagtgctggga       c.*660

          .         .         .         .         .         .       g.657614
 gtttggatgggatcgtgcccagctttgcttagctttctttatttctgcaaatctgttagc       c.*720

          .         .         .         .         .         .       g.657674
 ataattccaaggtggccaagcagatgtcacatggagttagtcaaagcacaaagtcacgat       c.*780

          .         .         .         .         .         .       g.657734
 tccacaatggaggggagacctggccaagggagccagccagcgtgcaactgcccaagctcc       c.*840

          .         .         .         .         .         .       g.657794
 aggtctccaggacaagagcagttgtctgccatgagcacccatccaggatggagaataagg       c.*900

          .         .         .         .         .         .       g.657854
 gcttctctgcctctcagaattctttttaattgaagatgtcttgagctctgcaaagatcag       c.*960

          .         .         .         .         .         .       g.657914
 agcaggtgagcatccactttgacatgaaggacaagaagacgcatggctcatggcgggcac       c.*1020

          .         .         .         .         .         .       g.657974
 atgcggctgccagtgagacagcgtctcctctgggagctgggcgggcacagcatcctcagt       c.*1080

          .         .         .         .         .         .       g.658034
 tctgtgcccagccaagggtgagcatctctgctgagacagtccttttgctctcggaggcca       c.*1140

          .         .         .         .         .         .       g.658094
 gggaagatggtacttagaggcttttcccctatcgctctgggtgtctaggaatcccaccag       c.*1200

          .         .         .         .         .         .       g.658154
 cttgtcttaacagtacaacagcttctttgaggacccagtgggtatggagtatagacagaa       c.*1260

          .         .         .         .         .         .       g.658214
 cccagggttgagaacagaaggtgggcggcaggatcagagtgaaagcagaggcgtgaggag       c.*1320

          .         .         .         .         .         .       g.658274
 aggaaagcagggaggtctcctgggctgccaggtcagcctctctggcaaggctttcttgag       c.*1380

          .         .         .         .         .         .       g.658334
 ccccgcccctttctttccccggagtccctccaccccataacaatacctcgaatttccaaa       c.*1440

          .         .         .         .         .         .       g.658394
 agaggtcaccagatgcacatgggccgcaaaacacacagtcaggcttccagcacattctcc       c.*1500

          .         .         .         .         .         .       g.658454
 cccatttggaggatactcgaatgtcaggtttttggttttattattatttcagaactagct       c.*1560

          .         .         .         .         .         .       g.658514
 cagcccatctctaattataaaacatggttttgttttttttttttcctttttttcttgatt       c.*1620

          .         .         .         .         .         .       g.658574
 aggtctggaacagctctagaatgaacacataaaatttagcaatttaaaatctttctttac       c.*1680

          .         .         .         .         .         .       g.658634
 tgcaagtttaaatagttgtacagatagtttataagcacaatattttaagaaaaaaaagtg       c.*1740

          .         .         .         .         .         .       g.658694
 gctggtctactaggcagcctttgtgccacttcagtgctagaaagttaaagaaaaaaaaac       c.*1800

          .         .         .         .         .         .       g.658754
 ttttgtgatttaataatactatttctgtggaataattataaaagtatgacctttttaaat       c.*1860

          .         .         .         .         .         .       g.658814
 caaccttatttggatgcatctgaaccagcagagctgtgttatattttctatctttgctag       c.*1920

          .         .         .         .         .         .       g.658874
 aacttcgtcattgaaggacaatttcttcaaagtggttacaattcataatgcagcagtttc       c.*1980

          .         .         .         .         .         .       g.658934
 tccaaaaacaaaaacaaaacacacaccacacacacgcgcttttccagtcacacacccctg       c.*2040

          .         .         .         .         .         .       g.658994
 atgttggaaccaagtttttggaccttctgttccaaaaccttttgcaggtcaatctttgta       c.*2100

          .         .         .         .         .         .       g.659054
 tttgaaatgatccaatccaacttgaagtcaattgaatattaaggcgctttacttccgtgt       c.*2160

          .         .         .         .         .         .       g.659114
 gctttcagtttttccatcatgagatgaatgagcattactctagataaatttcaagacagg       c.*2220

          .         .         .         .         .         .       g.659174
 atactacaggtggcctgctgaggctgccccatattttagaaaatgtaaaaatggtggttt       c.*2280

          .         .         .         .         .         .       g.659234
 ggccattaatttgtcttccatttgatgataccgcaaaattccgtgagtccattcctttgg       c.*2340

          .         .         .         .         .         .       g.659294
 catggcactttccctgggcctacagttggtattacctctgtgctcagtgccaggcaaaac       c.*2400

          .         .         .         .         .         .       g.659354
 actagctcaaaggagagtcaaggaaaccgctggcagacgataaccagtcgaaactcgtga       c.*2460

          .         .         .         .         .         .       g.659414
 cttcggtttgttgaactttggcagccagttggtgagggccagatgttattccctttctta       c.*2520

          .         .         .         .         .         .       g.659474
 aagatactccaagccacatgccactaaccacaagcaagctggctgcaagactaaagagct       c.*2580

          .         .         .         .         .         .       g.659534
 gataacatagtttatttttacactgtcttattatagagaagtaatagacctatcagaacc       c.*2640

          .         .         .         .         .         .       g.659594
 tgcactgaccaacaaataaacacatgttgccaagatgaatcggtctctatctctatctgc       c.*2700

          .         .         .         .         .         .       g.659654
 ttattttggtactgaaagcaatagttcctcattcaaatcaccacccactgttctccccct       c.*2760

          .         .         .         .         .         .       g.659714
 ttgggacatgttaggacgaggccctattccatgcccctctttaatggtggaacaaatgtt       c.*2820

          .         .         .         .         .         .       g.659774
 aaactgctcatctaaagatcatgttgatattattccaggttttaagatcaacttttgtta       c.*2880

          .         .         .         .         .         .       g.659834
 catactgtaatttaaataaactgcatttacatgcctagtttctgtaatattgtgtataca       c.*2940

          .         .         .         .         .         .       g.659894
 aaacccaaatctctcaaaatgtaaattatgtatacctgccaagataccttttccagggtg       c.*3000

          .         .         .         .         .         .       g.659954
 tctgcgcacattttaagttaattcacataatataaaaattactcaatgtgactgttgatt       c.*3060

          .         .         .         .         .         .       g.660014
 tgctgaactttacatatcacaaagtgaattatttgtgatactttagttaataaaatggta       c.*3120

          .         .         .         .         .         .       g.660074
 aatttttttctcagttattgaacaagcaagcattatccagttgatctggcaatgactttt       c.*3180

          .         .         .         .         .         .       g.660134
 tgtgtgtgggccacaatattgattttcccattaacaatttttttttgttttttaaatact       c.*3240

          .         .         .         .         .         .       g.660194
 aatatgtttcacactatagtttgtgtaacaacacgtgttcgcattatctatgttgctgtt       c.*3300

          .         .         .         .         .         .       g.660254
 acttttgtgcttttattctttttagactttataaaaaaaaaaaaaagctcctgtaatttg       c.*3360

          .         .         .         .         .         .       g.660314
 cactttctcccaatccttaaatctcttgtatggcaaccaaaattactgtaaaaaaataaa       c.*3420

          .         .         .         .         .         .       g.660374
 tatactattgcactaaggttgtggttctgattgcaaacaaacagtgaacactgtctgaat       c.*3480

          .         .         .         .         .         .       g.660434
 taaacaaaaagctgcccgacttgcaatctaatgtagattatctcaggcattgtggccagc       c.*3540

          .         .         .         .         .         .       g.660494
 tctgcctctctaaaactgaccagaaaaatctctctcatcgagtaaacaggctcctgtcac       c.*3600

          .         .         .         .         .         .       g.660554
 tgagctaatctgccttggttccatttccttattctcaatttatcaatggatacgtgcatg       c.*3660

          .         .         .         .         .         .       g.660614
 ttatttcagaattatgcaaaacgtcaaaatctgcttctgtgaccgctgctataggcgtgg       c.*3720

          .         .         .         .         .         .       g.660674
 agctgaggctcggcttttccttttgttctgggtggaagcagcggtgccgcggagggccag       c.*3780

          .         .         .         .         .         .       g.660734
 ccagatccggacccttcccttagggtccagtctccccacaccccagcagggtgtcttcta       c.*3840

          .         .         .         .         .         .       g.660794
 gccataaggccaagggagtggcagaactgggccgcctctctggttgacaagcaaaccaca       c.*3900

          .         .         .         .         .         .       g.660854
 tgctaaggcttggagcaagagagaatttgtgtctattggcaaagaactaagccaggaaga       c.*3960

          .         .         .         .         .         .       g.660914
 catgggccatccctccgctttagggaagcatattttaaacctaaacgttgaacttcttct       c.*4020

          .         .         .         .         .         .       g.660974
 ttggcctcaccagtgaaaacttgttgtctttagttcctaaagtttcttctactttggcac       c.*4080

          .         .         .         .         .         .       g.661034
 attccccagttgagcagcagcctctatgcttccacgttcaggaaaaattccagtcctcat       c.*4140

          .         .         .         .         .         .       g.661094
 atcttttgtagttcaccctcaagctctcccgcttcaccatccaatagtttctcccaaacc       c.*4200

          .         .         .         .         .         .       g.661154
 ttggcacccccctagactttgcttccaatggtttcttccagaccacttttcctagatgaa       c.*4260

          .         .         .         .         .         .       g.661214
 tatattcgtttaccttactaggaaaattattggaagattttttcttttacttgaaattgg       c.*4320

          .         .         .         .         .         .       g.661274
 aggcattttaataactggcgaactggaatgtgtttctgtatttgtagacaaccatgaacc       c.*4380

          .         .         .         .         .         .       g.661334
 catgcaagtaggtgaacattccacagtggctgggtgaccacagcagctgcatgcagacag       c.*4440

          .         .         .         .         .         .       g.661394
 gactgcccgtgctttgtggggaatcagagaatttccaaacttgtttctcagacttccgca       c.*4500

          .         .         .         .         .         .       g.661454
 gatctcatcactttgatttctaatccatgctgtattggtgattttgtttatcgttcctgt       c.*4560

          .         .         .         .         .         .       g.661514
 aacttgttctacattccacagtctttaccgttttatgttcaaaattacaacaatccctgt       c.*4620

          .         .         .         .         .         .       g.661574
 ccattgattccactctggaactctttgttcatgccaattttgaaattttaatacgagcct       c.*4680

          .         .         .         .         .         .       g.661634
 tcaaataaacacagaaaagaaaaaaaaaaaggaaaaaaaataaagtgtgtgccttgggtg       c.*4740

          .         .         .         .         .         .       g.661694
 ttttgaacctgatctgcataaaaccatattgtattcaaatgctgtatctttcatgaaagg       c.*4800

          .         .         .         .         .         .       g.661754
 ataaatatatcttcaatgtattaatgtagctgataaaatagttatagtgccttgttttct       c.*4860

          .         .         .         .         .         .       g.661814
 gaactgagaagcccatatcaatgcacaacgtaaagaaaggacggttcgagctatgaaatg       c.*4920

          .         .         .         .         .         .       g.661874
 ttgaggacacctacacgtgattctggagcctttctcatcataagactgtggaaaatacac       c.*4980

          .         .         .                                     g.661907
 agtcgtttaagttaaaaataaaaagtaaattga                                  c.*5013

 (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 SH3 and multiple ankyrin repeat domains 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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