SMAD family member 2 (SMAD2) - coding DNA reference sequence

(used for variant description)

(last modified January 18, 2016)


This file was created to facilitate the description of sequence variants on transcript NM_005901.5 in the SMAD2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_029946.1, covering SMAD2 transcript NM_005901.5.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
           .         .         .         .         .                g.5597
         ccctctcctcccctcccctcccctctcttcccctaccctcccgcgcgcccgg       c.-241

 .         .         .         .         .         .                g.5657
 gccgccggccgggcccgggcctgggggcggggcgggaagacggcggccgggagtgttttc       c.-181

 .         .         .         .         .         .                g.5717
 agttccgcctccaatcgcccattcccctcttcccctcccagccccctccatcccatcgga       c.-121

 .         .         .         .         .         .                g.5777
 agaggaaggaacaaaaggtcccggaccccccggatctgacggggcgggacctggcgccac       c.-61

 .       | 02 .         .         .         .         .             g.39388
 cttgcag | gttcgatacaagaggctgttttcctagcgtggcttgctgcctttggtaagaac    c.-1

          .         .         .         .         .         .       g.39448
 ATGTCGTCCATCTTGCCATTCACGCCGCCAGTTGTGAAGAGACTGCTGGGATGGAAGAAG       c.60
 M  S  S  I  L  P  F  T  P  P  V  V  K  R  L  L  G  W  K  K         p.20

          .         .         .         .         .         .       g.39508
 TCAGCTGGTGGGTCTGGAGGAGCAGGCGGAGGAGAGCAGAATGGGCAGGAAGAAAAGTGG       c.120
 S  A  G  G  S  G  G  A  G  G  G  E  Q  N  G  Q  E  E  K  W         p.40

          .         .         .         .         .         .       g.39568
 TGTGAGAAAGCAGTGAAAAGTCTGGTGAAGAAGCTAAAGAAAACAGGACGATTAGATGAG       c.180
 C  E  K  A  V  K  S  L  V  K  K  L  K  K  T  G  R  L  D  E         p.60

          .         .         .         .         .       | 03 .    g.65584
 CTTGAGAAAGCCATCACCACTCAAAACTGTAATACTAAATGTGTTACCATACCAAG | CACT    c.240
 L  E  K  A  I  T  T  Q  N  C  N  T  K  C  V  T  I  P  S  |  T      p.80

          .         .         .         .         .         .       g.65644
 TGCTCTGAAATTTGGGGACTGAGTACACCAAATACGATAGATCAGTGGGATACAACAGGC       c.300
 C  S  E  I  W  G  L  S  T  P  N  T  I  D  Q  W  D  T  T  G         p.100

          .         .       | 04 .         .         .         .    g.66742
 CTTTACAGCTTCTCTGAACAAACCAG | GTCTCTTGATGGTCGTCTCCAGGTATCCCATCGA    c.360
 L  Y  S  F  S  E  Q  T  R  |  S  L  D  G  R  L  Q  V  S  H  R      p.120

          .         .         .         .         .         .       g.66802
 AAAGGATTGCCACATGTTATATATTGCCGATTATGGCGCTGGCCTGATCTTCACAGTCAT       c.420
 K  G  L  P  H  V  I  Y  C  R  L  W  R  W  P  D  L  H  S  H         p.140

          .         .         .         .         .         .       g.66862
 CATGAACTCAAGGCAATTGAAAACTGCGAATATGCTTTTAATCTTAAAAAGGATGAAGTA       c.480
 H  E  L  K  A  I  E  N  C  E  Y  A  F  N  L  K  K  D  E  V         p.160

          .         .         .         . | 05       .         .    g.67707
 TGTGTAAACCCTTACCACTATCAGAGAGTTGAGACACCAG | TTTTGCCTCCAGTATTAGTG    c.540
 C  V  N  P  Y  H  Y  Q  R  V  E  T  P  V |   L  P  P  V  L  V      p.180

          .         .         .         .         .         .       g.67767
 CCCCGACACACCGAGATCCTAACAGAACTTCCGCCTCTGGATGACTATACTCACTCCATT       c.600
 P  R  H  T  E  I  L  T  E  L  P  P  L  D  D  Y  T  H  S  I         p.200

          .         .         .         .         .      | 06  .    g.71016
 CCAGAAAACACTAACTTCCCAGCAGGAATTGAGCCACAGAGTAATTATATTCCAG | AAACG    c.660
 P  E  N  T  N  F  P  A  G  I  E  P  Q  S  N  Y  I  P  E |   T      p.220

          .         .         .         .         .         .       g.71076
 CCACCTCCTGGATATATCAGTGAAGATGGAGAAACAAGTGACCAACAGTTGAATCAAAGT       c.720
 P  P  P  G  Y  I  S  E  D  G  E  T  S  D  Q  Q  L  N  Q  S         p.240

          . | 07       .         .         .         .         .    g.84867
 ATGGACACAG | GCTCTCCAGCAGAACTATCTCCTACTACTCTTTCCCCTGTTAATCATAGC    c.780
 M  D  T  G |   S  P  A  E  L  S  P  T  T  L  S  P  V  N  H  S      p.260

      | 08   .         .         .         .         .         .    g.87513
 TTGG | ATTTACAGCCAGTTACTTACTCAGAACCTGCATTTTGGTGTTCGATAGCATATTAT    c.840
 L  D |   L  Q  P  V  T  Y  S  E  P  A  F  W  C  S  I  A  Y  Y      p.280

          .         .         .         .         .         .       g.87573
 GAATTAAATCAGAGGGTTGGAGAAACCTTCCATGCATCACAGCCCTCACTCACTGTAGAT       c.900
 E  L  N  Q  R  V  G  E  T  F  H  A  S  Q  P  S  L  T  V  D         p.300

          .         .         .         .         .         .       g.87633
 GGCTTTACAGACCCATCAAATTCAGAGAGGTTCTGCTTAGGTTTACTCTCCAATGTTAAC       c.960
 G  F  T  D  P  S  N  S  E  R  F  C  L  G  L  L  S  N  V  N         p.320

          .         .         .        | 09.         .         .    g.90367
 CGAAATGCCACGGTAGAAATGACAAGAAGGCATATAG | GAAGAGGAGTGCGCTTATACTAC    c.1020
 R  N  A  T  V  E  M  T  R  R  H  I  G |   R  G  V  R  L  Y  Y      p.340

          .         .         .         .         .         .       g.90427
 ATAGGTGGGGAAGTTTTTGCTGAGTGCCTAAGTGATAGTGCAATCTTTGTGCAGAGCCCC       c.1080
 I  G  G  E  V  F  A  E  C  L  S  D  S  A  I  F  V  Q  S  P         p.360

          .         .         .         .         .      | 10  .    g.90665
 AATTGTAATCAGAGATATGGCTGGCACCCTGCAACAGTGTGTAAAATTCCACCAG | GCTGT    c.1140
 N  C  N  Q  R  Y  G  W  H  P  A  T  V  C  K  I  P  P  G |   C      p.380

          .         .         .         .         .         .       g.90725
 AATCTGAAGATCTTCAACAACCAGGAATTTGCTGCTCTTCTGGCTCAGTCTGTTAATCAG       c.1200
 N  L  K  I  F  N  N  Q  E  F  A  A  L  L  A  Q  S  V  N  Q         p.400

          .         .         .         .         .         .       g.90785
 GGTTTTGAAGCCGTCTATCAGCTAACTAGAATGTGCACCATAAGAATGAGTTTTGTGAAA       c.1260
 G  F  E  A  V  Y  Q  L  T  R  M  C  T  I  R  M  S  F  V  K         p.420

          .         . | 11       .         .         .         .    g.94234
 GGGTGGGGAGCAGAATACCG | AAGGCAGACGGTAACAAGTACTCCTTGCTGGATTGAACTT    c.1320
 G  W  G  A  E  Y  R  |  R  Q  T  V  T  S  T  P  C  W  I  E  L      p.440

          .         .         .         .         .         .       g.94294
 CATCTGAATGGACCTCTACAGTGGTTGGACAAAGTATTAACTCAGATGGGATCCCCTTCA       c.1380
 H  L  N  G  P  L  Q  W  L  D  K  V  L  T  Q  M  G  S  P  S         p.460

          .         .                                               g.94318
 GTGCGTTGCTCAAGCATGTCATAA                                           c.1404
 V  R  C  S  S  M  S  X                                             p.467

          .         .         .         .         .         .       g.94378
 agcttcaccaatcaagtcccatgaaaagacttaatgtaacaactcttctgtcatagcatt       c.*60

          .         .         .         .         .         .       g.94438
 gtgtgtggtccctatggactgtttactatccaaaagttcaagagagaaaacagcacttga       c.*120

          .         .         .         .         .         .       g.94498
 ggtctcatcaattaaagcaccttgtggaatctgtttcctatatttgaatattagatggga       c.*180

          .         .         .         .         .         .       g.94558
 aaattagtgtctagaaatactctcccattaaagaggaagagaagattttaaagacttaat       c.*240

          .         .         .         .         .         .       g.94618
 gatgtcttattgggcataaaactgagtgtcccaaaggtttattaataacagtagtagtta       c.*300

          .         .         .         .         .         .       g.94678
 tgtgtacaggtaatgtatcatgatccagtatcacagtattgtgctgtttatatacatttt       c.*360

          .         .         .         .         .         .       g.94738
 tagtttgcatagatgaggtgtgtgtgtgcgctgcttcttgatctaggcaaacctttataa       c.*420

          .         .         .         .         .         .       g.94798
 agttgcagtacctaatctgttattcccacttctctgttatttttgtgtgtcttttttaat       c.*480

          .         .         .         .         .         .       g.94858
 atataatatatatcaagattttcaaattatttagaagcagattttcctgtagaaaaacta       c.*540

          .         .         .         .         .         .       g.94918
 atttttctgccttttaccaaaaataaactcttgggggaagaaaagtggattaacttttga       c.*600

          .         .         .         .         .         .       g.94978
 aatccttgaccttaatgtgttcagtggggcttaaacagtcattctttttgtggttttttg       c.*660

          .         .         .         .         .         .       g.95038
 tttttttttgtttttttttttaactgctaaatcttattataaggaaaccatactgaaaac       c.*720

          .         .         .         .         .         .       g.95098
 ctttccaagcctcttttttccattcccatttttgtcctcataatcaaaacagcataacat       c.*780

          .         .         .         .         .         .       g.95158
 gacatcatcaccagtaatagttgcattgatactgctggcaccagttaattctgggataca       c.*840

          .         .         .         .         .         .       g.95218
 gtaagaattcatatggagaaagtccctttgtcttatgcccaaatttcaacaggaataatt       c.*900

          .         .         .         .         .         .       g.95278
 ggcttgtataatctagcagtctgttgatttatccttccacctcataaaaaatgcataggt       c.*960

          .         .         .         .         .         .       g.95338
 ggcagtataattattttcagggatatgctagaattacttccacatatttatcccttttta       c.*1020

          .         .         .         .         .         .       g.95398
 aaaaagctaatctataaataccgtttttccaaaggtattttacaatatttcaacagcaga       c.*1080

          .         .         .         .         .         .       g.95458
 ccttctgctcttcgagtagtttgatttggtttagtaaccagattgcattatgaaatgggc       c.*1140

          .         .         .         .         .         .       g.95518
 cttttgtaaatgtaattgtttctgcaaaatacctagaaaagtgatgctgaggtaggatca       c.*1200

          .         .         .         .         .         .       g.95578
 gcagatatgggccatctgtttttaaagtatgttgtattcagtttataaattgattgttat       c.*1260

          .         .         .         .         .         .       g.95638
 tctacacataattatgaattcagaattttaaaaattgggggaaaagccatttatttagca       c.*1320

          .         .         .         .         .         .       g.95698
 agttttttagcttataagttacctgcagtctgagctgttcttaactgatcctggttttgt       c.*1380

          .         .         .         .         .         .       g.95758
 gattgacaatatttcatgctctgtagtgagaggagatttccgaaactctgttgctagttc       c.*1440

          .         .         .         .         .         .       g.95818
 attctgcagcaaataattattatgtctgatgttgactcattgcagtttaaacatttcttc       c.*1500

          .         .         .         .         .         .       g.95878
 ttgtttgcatcttagtagaaatggaaaataaccactcctggtcgtcttttcataaatttt       c.*1560

          .         .         .         .         .         .       g.95938
 catatttttgaagctgtctttggtacttgttctttgaaatcatatccacctgtctctata       c.*1620

          .         .         .         .         .         .       g.95998
 ggtatcattttcaatactttcaacatttggtggttttctattgggtactccccattttcc       c.*1680

          .         .         .         .         .         .       g.96058
 tatatttgtgtgtatatgtatgtgttcatgtaaatttggtatagtaattttttattcatt       c.*1740

          .         .         .         .         .         .       g.96118
 caacaaatatttattgttcacctgtttgtaccaggaacttttcttagtctttgggtaaag       c.*1800

          .         .         .         .         .         .       g.96178
 gtgaacaagacaactacagttcctgcctttgctgagacagcagttacactaacccttaat       c.*1860

          .         .         .         .         .         .       g.96238
 tatcttacttgtctatgaaggagataaacagggtactgtactggagaataacagatggga       c.*1920

          .         .         .         .         .         .       g.96298
 tgcttcaggtaggacatcaaggaaagcctctaaggaaaggatgcatgagctaacacctga       c.*1980

          .         .         .         .         .         .       g.96358
 cattaaagaagcaagccaagtgaggagccaggggagataagcattcctggcaaagagaat       c.*2040

          .         .         .         .         .         .       g.96418
 agcatcaaatgcaaaaaggttcacactaaaggaaactcctgattaggtattaatgcttta       c.*2100

          .         .         .         .         .         .       g.96478
 tacagaaacctctatacaaatccaaacttgaagatcagaatggttctacagttcataaca       c.*2160

          .         .         .         .         .         .       g.96538
 ttttgaaggtggccttattttgtgatagtctgcttcatgtgattctcactaacatatctc       c.*2220

          .         .         .         .         .         .       g.96598
 cttcctcaacctttgctgtaaaaatttcatttgcaccacatcagtactacttaatttaac       c.*2280

          .         .         .         .         .         .       g.96658
 aagcttttgttgtgtaagctctcactgttttagtgccctgctgcttgcttccagactttg       c.*2340

          .         .         .         .         .         .       g.96718
 tgctgtccagtaattatgtcttccactacccatcttgtgagcagagtaaatgtcctaggt       c.*2400

          .         .         .         .         .         .       g.96778
 aataccactatcaggcctgtaggagatactcagtggagcctctgcccttctttttcttac       c.*2460

          .         .         .         .         .         .       g.96838
 ttgagaacttgtaatggtgttagggaacagttgtaggggcagaaaacaactctgaaagtg       c.*2520

          .         .         .         .         .         .       g.96898
 gtagaaggtcctgatcttggtggttactcttgcattactgtgttaggtcaagcagtgcct       c.*2580

          .         .         .         .         .         .       g.96958
 actatgctgtttcagtagtggagcgcatctctacagttctgatgcgatttttctgtacag       c.*2640

          .         .         .         .         .         .       g.97018
 tatgaaattgggactcaactctttgaaaacacctattgagcagttatacctgttgagcag       c.*2700

          .         .         .         .         .         .       g.97078
 tttacttcctggttgtaattacatttgtgtgaatgtgtttgatgctttttaacgagatga       c.*2760

          .         .         .         .         .         .       g.97138
 tgttttttgtattttatctactgtggcctgattttttttttgttttctgcccctcccccc       c.*2820

          .         .         .         .         .         .       g.97198
 atttataggtgtggttttcatttttctaagtgatagaatcccctctttgttgaatttttg       c.*2880

          .         .         .         .         .         .       g.97258
 tctttatttaaattagcaacattacttaggatttattcttcacaatactgttaattttct       c.*2940

          .         .         .         .         .         .       g.97318
 aggaatgatgacctgagaaccgaatggccatgctttctatcacatttctaagatgagtaa       c.*3000

          .         .         .         .         .         .       g.97378
 tattttttccagtaggttccacagagacaccttgggggctggcttaggggaggctgttgg       c.*3060

          .         .         .         .         .         .       g.97438
 agttctcactgacttagtggcatatttattctgtactgaagaactgcatggggtttcttt       c.*3120

          .         .         .         .         .         .       g.97498
 tggaaagagtttcattgctttaaaaagaagctcagaaagtctttataaccactggtcaac       c.*3180

          .         .         .         .         .         .       g.97558
 gattagaaaaatataactggatttaggcctaccttctggaataccgctgattgtgctctt       c.*3240

          .         .         .         .         .         .       g.97618
 tttatcctactttaaagaagctttcatgattagatttgagctatatcagttataccgatt       c.*3300

          .         .         .         .         .         .       g.97678
 ataccttataatacacattcagttagtaaacatttattgatgcctgttgtttgcccagcc       c.*3360

          .         .         .         .         .         .       g.97738
 actgtgatggatattgaataataaaaagatgactaggacggggccctgacccttgagctg       c.*3420

          .         .         .         .         .         .       g.97798
 tgcttggtcttgtagaggttgtgttttttttcctcaggacctgtcactttggcagaagga       c.*3480

          .         .         .         .         .         .       g.97858
 aatctgcctaatttttcttgaaagctaaattttctttgtaagtttttacaaattgtttaa       c.*3540

          .         .         .         .         .         .       g.97918
 tacctagttgtattttttaccttaagccacattgagttttgcttgatttgtctgtctttt       c.*3600

          .         .         .         .         .         .       g.97978
 aaacactgtcaaatgctttcccttttgttaaaattattttaatttcactttttttgtgcc       c.*3660

          .         .         .         .         .         .       g.98038
 cttgtcaatttaagactaagactttgaaggtaaaacaaacaaacaaacatcagtcttagt       c.*3720

          .         .         .         .         .         .       g.98098
 ctcttgctagttgaaatcaaataaaagaaaatatatacccagttggtttctctacctctt       c.*3780

          .         .         .         .         .         .       g.98158
 aaaagcttcccatatatacctttaagatccttctcttttttctttaactactaaataggt       c.*3840

          .         .         .         .         .         .       g.98218
 tcagcatttattcagtgttagataccctcttcgtctgagggtggcgtaggtttatgttgg       c.*3900

          .         .         .         .         .         .       g.98278
 gatataaagtaacacaagacaatcttcactgtacataaaatatgtcttcatgtacagtct       c.*3960

          .         .         .         .         .         .       g.98338
 ttactttaaaagctgaacattccaatttgcgccttccctcccaagcccctgcccaccaag       c.*4020

          .         .         .         .         .         .       g.98398
 tatctctttagatatctagtctgtggacatgaacaatgaatacttttttcttactctgat       c.*4080

          .         .         .         .         .         .       g.98458
 cgaaggcattgatacttagacatatcaaacatttcttcctttcatatgctttactttgct       c.*4140

          .         .         .         .         .         .       g.98518
 aaatctattatattcattgcctgaattttattcttcctttctacctgacaacacacatcc       c.*4200

          .         .         .         .         .         .       g.98578
 aggtggtacttgctggttatcctctttcttgttagccttgttttttgttttttttttttt       c.*4260

          .         .         .         .         .         .       g.98638
 tttttgagagggagtctcgctctgttgcccaacctggagtgcagtggtgcgatcttggtt       c.*4320

          .         .         .         .         .         .       g.98698
 cactgcaagctccgcctcccgggttcacgccatgcttctgcctcagcctcccaagtagct       c.*4380

          .         .         .         .         .         .       g.98758
 gggactacaggcgcccaccaccacactcggctaattttttgtatttttagtagagacggg       c.*4440

          .         .         .         .         .         .       g.98818
 gtttcaccgtgttggccaggatggtctcgatctcctgacctcgtgatctgtccacctcgg       c.*4500

          .         .         .         .         .         .       g.98878
 cttcccaaagtgctgggattacaggcatgagccaccgcgcccagcctagccatattttta       c.*4560

          .         .         .         .         .         .       g.98938
 tctgcatatatcagaatgtttctctcctttgaacttattaacaaaaaaggaacatgcttt       c.*4620

          .         .         .         .         .         .       g.98998
 tcatacctagagtcctaatttcttcatcatgaaggttgctattcaaattgatcaatcatt       c.*4680

          .         .         .         .         .         .       g.99058
 ttaattttacaaatggctcaaaaattctgttcagtaaatgtctttgtgactggcaaatgg       c.*4740

          .         .         .         .         .         .       g.99118
 cataaattatgtttaagattatgaacttttctgacagttgcagccaatgttttccctacg       c.*4800

          .         .         .         .         .         .       g.99178
 ataccagatttccatcttggggcatattggattgttgtatttaagacagtcagaataatg       c.*4860

          .         .         .         .         .         .       g.99238
 atagtgtgtggtctccagaggtagtcagaatcctgctattgagttctttttatatcttcc       c.*4920

          .         .         .         .         .         .       g.99298
 ttttcaattttttattaccattttgtttgtttagactacactttgtagggattgaggggc       c.*4980

          .         .         .         .         .         .       g.99358
 aaattatctcttggagtggaattcctgtgttttgagccttacaaccaggaaatatgagct       c.*5040

          .         .         .         .         .         .       g.99418
 atactagatagcctcatgatagcatttacgataagaacttatctcgtgtgttcatgtaat       c.*5100

          .         .         .         .         .         .       g.99478
 tttttgagtaggaactgttttatcttgaatattgtagctaactatatatagcagaactgc       c.*5160

          .         .         .         .         .         .       g.99538
 ctcagtctttttaagaaggaaataaataatatatgtgtatgaatttatatatacatatac       c.*5220

          .         .         .         .         .         .       g.99598
 actcatagacaaacttaacagttggggtcattctaacagttaaaacaattgttccattgt       c.*5280

          .         .         .         .         .         .       g.99658
 ttaaatctcagatcctggtaaaatgttcttaatttgtctgtgtacattttcctttcatgg       c.*5340

          .         .         .         .         .         .       g.99718
 acagaccattggagtacattaattttcttaatctgccatttggcagttcatttaatatac       c.*5400

          .         .         .         .         .         .       g.99778
 cattttttggcaacttggtaactaagaatcacagccaaaatttgttaacatcaaagaaag       c.*5460

          .         .         .         .         .         .       g.99838
 ctctgccatataccccgttactaaattattatacatccagcagattctgggatgtactaa       c.*5520

          .         .         .         .         .         .       g.99898
 cttagggttaactttgttgttgttgataatactagattgctccctctttaattcttcttc       c.*5580

          .         .         .         .         .         .       g.99958
 tggtgcaaggttgctgcttaagttaccctgggaaatactactacaaggtcaaattttcta       c.*5640

          .         .         .         .         .         .       g.100018
 gtatcttacagcctgattgaaggtgattcagatctttgctcaatataaatggattttcca       c.*5700

          .         .         .         .         .         .       g.100078
 agattctctgggccatccttgacccacaggtgatctcgctggagtatattaacttaactt       c.*5760

          .         .         .         .         .         .       g.100138
 cagtgccagttggtttggtgccatgagatccataatgaatccagaacttcaccattgctt       c.*5820

          .         .         .         .         .         .       g.100198
 agatataagagtcccttggaagaataatgccactgatgatgggggtcagaaggtgtatta       c.*5880

          .         .         .         .         .         .       g.100258
 actcaacatagagggcttttagatttttcttcaaaaaaatttcgagaaaagtattctttt       c.*5940

          .         .         .         .         .         .       g.100318
 accctccaaacagttaacagctcttagtttctccaaatatgctctttgatttacttattt       c.*6000

          .         .         .         .         .         .       g.100378
 ttaattaaagatggtaatttattgaacaatgaaatccgtaatatattgatttaaggacaa       c.*6060

          .         .         .         .         .         .       g.100438
 aagtgaagttttagaattataaaagtacttaaatattatatattttccatttcataattg       c.*6120

          .         .         .         .         .         .       g.100498
 ttttcctttctctgtggctttaaagtttttgactattttacaatgttaatcactaggtaa       c.*6180

          .         .         .         .         .         .       g.100558
 cttgccatatttctggttctatattaagttctatcctttataatgctgttattataaagc       c.*6240

          .         .         .         .         .         .       g.100618
 tggtttttagcatttgtctgtagcaatagaaattttactaagtctctgttctcccagtaa       c.*6300

          .         .         .         .         .         .       g.100678
 gttttttcttttctcagtaagtccctaagaaaacatttgtttgccactcttactattccc       c.*6360

          .         .         .         .         .         .       g.100738
 aatcttggattgttcgagctgaaaaaaaatttgatgagaaacaggaggatccttttctgg       c.*6420

          .         .         .         .         .         .       g.100798
 tgaatataggttcctgctttaagaatgtggaaatccattgctttatataactaatataca       c.*6480

          .         .         .         .         .         .       g.100858
 cacagattaattaaaattgtgagaaataattcacacatgacaagtaggtaacatgcatga       c.*6540

          .         .         .         .         .         .       g.100918
 gttttgaatttttttaaaaacccaactgtttgacaaaatatagaacccaaattggtactt       c.*6600

          .         .         .         .         .         .       g.100978
 tcttagaccagtgtaacctcacacctcagttttgcttttccaaccctgacttgaaaggca       c.*6660

          .         .         .         .         .         .       g.101038
 tatttgtatctttttattagtgatagtgaagctgtgacactaaccttttatacaaaagag       c.*6720

          .         .         .         .         .         .       g.101098
 taaagaaagaaaaactacagcgattaagatgagaacagttctgcagttgttgaactagat       c.*6780

          .         .         .         .         .         .       g.101158
 cacagcattgtaggcagaataaaaaatgttcatatctgagaatattcctttcgccatctt       c.*6840

          .         .         .         .         .         .       g.101218
 ttcccaaggccagacctcctggtggagcacagttaaaagtaacattctgggcctttgtaa       c.*6900

          .         .         .         .         .         .       g.101278
 tcggagggctgtgtctccagctggcagcctttgttttaatatataatgcaggactgtgga       c.*6960

          .         .         .         .         .         .       g.101338
 aaacagttggcatagaatattttcacctaaaaaagaaagaaaagacatacaaaactggat       c.*7020

          .         .         .         .         .         .       g.101398
 taattgcaaaaagagaatacagtaaaataccatataactggacaaagctagaagaacctt       c.*7080

          .         .         .         .         .         .       g.101458
 tagaagatttgtctgaaaacagatttcaagagtgagcttttatacactgctcactaattt       c.*7140

          .         .         .         .         .         .       g.101518
 gcttgattactaccaactcttcttaaagttaacacgtttaaggtatttctggacttccta       c.*7200

          .         .         .         .         .         .       g.101578
 gccttttagcaagcttagaggaactagccattagctagtgatgtaaaaatattttgggga       c.*7260

          .         .         .         .         .         .       g.101638
 ctgatgcccttaaaggttatgcccttgaaagttcttaccttttctctagtgatattaagg       c.*7320

          .         .         .         .         .         .       g.101698
 aacgagtgggtagtgttctcagggtgaccagctgccctaaagtgcctgggattgagggtt       c.*7380

          .         .         .         .         .         .       g.101758
 tccctggatgcgggactttccctggatacaaaacttttagcagagttttgtatatatgtg       c.*7440

          .         .         .         .         .         .       g.101818
 gatttttctgataagtagcacatcagaggccttaaccactgcccaaaagcgattctccat       c.*7500

          .         .         .         .         .         .       g.101878
 tgagagtacatatcttgaacttaagaaattcatttgctctgatttttaatcttgtaaagt       c.*7560

          .         .         .         .         .         .       g.101938
 ttttgctaaactcaaaacaagtcccaggcacaccagaaggagctgaccaccttaggtgtt       c.*7620

          .         .         .         .         .         .       g.101998
 cttgtgatttatccttacttccctatgttgtcatagttgcttctaaactcagctgcacta       c.*7680

          .         .         .         .         .         .       g.102058
 tggctgtcaacatttctgatacttattgggatatgtgccatccagtcatttagtactttg       c.*7740

          .         .         .         .         .         .       g.102118
 aatggaacatgagatttataacacaggtaatagctgaaggtaccagtatggtggtgagac       c.*7800

          .         .         .         .         .         .       g.102178
 tcacacttagtgatccagctaaggtaactgatgttataatggaacagagaagaggccaac       c.*7860

          .         .         .         .         .         .       g.102238
 tagatagctaagttcttctgaacctatgtgtatatgtaagtacaaatcatgcgtccttat       c.*7920

          .         .         .         .         .         .       g.102298
 ggggttaaacttaatctgaaatttacatttttcatagtaaaaggaaaccaattgttgcag       c.*7980

          .         .         .         .         .         .       g.102358
 atttcttttcttgtgaggaaatacatggcctttgatgctctggcgtctactgcatttccc       c.*8040

          .         .         .         .         .         .       g.102418
 agtctgttctgctcgagaagccagaatgtgttgttaacatttttccgtgaatgttgtgtt       c.*8100

          .         .         .         .         .         .       g.102478
 aaaatgattaaatgcatcagccaatggcaagtgaaggaattgggtgtcctgatgcagact       c.*8160

          .         .         .         .         .         .       g.102538
 gagcagtttctctcaattgtagcctcatactcataaggtgcttaccagctagaacattga       c.*8220

          .         .         .         .         .         .       g.102598
 gcacgtgaggtgagattttttttctctgatggcattaactttgtaatgcaatatgatgga       c.*8280

          .         .         .         .         .         .       g.102658
 tgcagaccctgttcttgtttccctctggaagtccttagtggctgcatccttggtgcactg       c.*8340

          .         .         .         .         .         .       g.102718
 tgatggagatattaaatgtgttctttgtgagctttcgttctatgattgtcaaaagtacga       c.*8400

          .         .         .         .         .         .       g.102778
 tgtggttccttttttatttttattaaacaatgagctgaggctttattacagctggttttc       c.*8460

          .         .         .         .         .         .       g.102838
 aagttaaaattgttgaatactgatgtctttctcccacctacaccaaatattttagtctat       c.*8520

          .         .         .         .         .         .       g.102898
 ttaaagtacaaaaaaagttctgcttaagaaaacattgcttacatgtcctgtgatttctgg       c.*8580

          .         .         .         .         .         .       g.102958
 tcaatttttatatatatttgtgtgcatcatctgtatgtgctttcactttttaccttgttt       c.*8640

          .         .         .         .         .         .       g.103018
 gctcttacctgtgttaacagccctgtcaccgttgaaaggtggacagttttcctagcatta       c.*8700

          .         .         .                                     g.103050
 aaagaaagccatttgagttgtttaccatgtta                                   c.*8732

 (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 SMAD family 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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