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

(used for variant description)

(last modified January 13, 2016)


This file was created to facilitate the description of sequence variants on transcript NM_001003652.3 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_001003652.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                     .         .         .         .                g.5040
                     cggccgggaggcggggcgggccgtaggcaaagggaggtgg       c.-361

 .         .         .         .         .         .                g.5100
 ggaggcggtggccggcgactccccgcgccccgctcgccccccggcccttcccgcggtgct       c.-301

 .         .         .         .         .         .                g.5160
 cggcctcgttcctttcctcctccgctccctccgtcttccatacccgccccgcgcggcttt       c.-241

 .         .         .         .         .         .                g.5220
 cggccggcgtgcctcgcgccctaacgggcggctggaggcgccaatcagcgggcggcaggg       c.-181

 .         .         .         .         .         .                g.5280
 tgccagccccggggctgcgccggcgaatcggcggggcccgcggcccagggtggcaggcgg       c.-121

 .         .         .         .         .         .                g.5340
 gtctacccgcgcggccgcggcggcggagaagcagctcgccagccagcagcccgccagccg       c.-61

 .       | 02 .         .         .         .         .             g.39390
 ccgggag | gttcgatacaagaggctgttttcctagcgtggcttgctgcctttggtaagaac    c.-1

          .         .         .         .         .         .       g.39450
 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.39510
 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.39570
 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.65586
 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.65646
 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.66744
 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.66804
 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.66864
 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.67709
 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.67769
 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.71018
 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.71078
 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.84869
 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.87515
 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.87575
 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.87635
 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.90369
 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.90429
 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.90667
 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.90727
 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.90787
 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.94236
 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.94296
 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.94320
 GTGCGTTGCTCAAGCATGTCATAA                                           c.1404
 V  R  C  S  S  M  S  X                                             p.467

          .         .         .         .         .         .       g.94380
 agcttcaccaatcaagtcccatgaaaagacttaatgtaacaactcttctgtcatagcatt       c.*60

          .         .         .         .         .         .       g.94440
 gtgtgtggtccctatggactgtttactatccaaaagttcaagagagaaaacagcacttga       c.*120

          .         .         .         .         .         .       g.94500
 ggtctcatcaattaaagcaccttgtggaatctgtttcctatatttgaatattagatggga       c.*180

          .         .         .         .         .         .       g.94560
 aaattagtgtctagaaatactctcccattaaagaggaagagaagattttaaagacttaat       c.*240

          .         .         .         .         .         .       g.94620
 gatgtcttattgggcataaaactgagtgtcccaaaggtttattaataacagtagtagtta       c.*300

          .         .         .         .         .         .       g.94680
 tgtgtacaggtaatgtatcatgatccagtatcacagtattgtgctgtttatatacatttt       c.*360

          .         .         .         .         .         .       g.94740
 tagtttgcatagatgaggtgtgtgtgtgcgctgcttcttgatctaggcaaacctttataa       c.*420

          .         .         .         .         .         .       g.94800
 agttgcagtacctaatctgttattcccacttctctgttatttttgtgtgtcttttttaat       c.*480

          .         .         .         .         .         .       g.94860
 atataatatatatcaagattttcaaattatttagaagcagattttcctgtagaaaaacta       c.*540

          .         .         .         .         .         .       g.94920
 atttttctgccttttaccaaaaataaactcttgggggaagaaaagtggattaacttttga       c.*600

          .         .         .         .         .         .       g.94980
 aatccttgaccttaatgtgttcagtggggcttaaacagtcattctttttgtggttttttg       c.*660

          .         .         .         .         .         .       g.95040
 tttttttttgtttttttttttaactgctaaatcttattataaggaaaccatactgaaaac       c.*720

          .         .         .         .         .         .       g.95100
 ctttccaagcctcttttttccattcccatttttgtcctcataatcaaaacagcataacat       c.*780

          .         .         .         .         .         .       g.95160
 gacatcatcaccagtaatagttgcattgatactgctggcaccagttaattctgggataca       c.*840

          .         .         .         .         .         .       g.95220
 gtaagaattcatatggagaaagtccctttgtcttatgcccaaatttcaacaggaataatt       c.*900

          .         .         .         .         .         .       g.95280
 ggcttgtataatctagcagtctgttgatttatccttccacctcataaaaaatgcataggt       c.*960

          .         .         .         .         .         .       g.95340
 ggcagtataattattttcagggatatgctagaattacttccacatatttatcccttttta       c.*1020

          .         .         .         .         .         .       g.95400
 aaaaagctaatctataaataccgtttttccaaaggtattttacaatatttcaacagcaga       c.*1080

          .         .         .         .         .         .       g.95460
 ccttctgctcttcgagtagtttgatttggtttagtaaccagattgcattatgaaatgggc       c.*1140

          .         .         .         .         .         .       g.95520
 cttttgtaaatgtaattgtttctgcaaaatacctagaaaagtgatgctgaggtaggatca       c.*1200

          .         .         .         .         .         .       g.95580
 gcagatatgggccatctgtttttaaagtatgttgtattcagtttataaattgattgttat       c.*1260

          .         .         .         .         .         .       g.95640
 tctacacataattatgaattcagaattttaaaaattgggggaaaagccatttatttagca       c.*1320

          .         .         .         .         .         .       g.95700
 agttttttagcttataagttacctgcagtctgagctgttcttaactgatcctggttttgt       c.*1380

          .         .         .         .         .         .       g.95760
 gattgacaatatttcatgctctgtagtgagaggagatttccgaaactctgttgctagttc       c.*1440

          .         .         .         .         .         .       g.95820
 attctgcagcaaataattattatgtctgatgttgactcattgcagtttaaacatttcttc       c.*1500

          .         .         .         .         .         .       g.95880
 ttgtttgcatcttagtagaaatggaaaataaccactcctggtcgtcttttcataaatttt       c.*1560

          .         .         .         .         .         .       g.95940
 catatttttgaagctgtctttggtacttgttctttgaaatcatatccacctgtctctata       c.*1620

          .         .         .         .         .         .       g.96000
 ggtatcattttcaatactttcaacatttggtggttttctattgggtactccccattttcc       c.*1680

          .         .         .         .         .         .       g.96060
 tatatttgtgtgtatatgtatgtgttcatgtaaatttggtatagtaattttttattcatt       c.*1740

          .         .         .         .         .         .       g.96120
 caacaaatatttattgttcacctgtttgtaccaggaacttttcttagtctttgggtaaag       c.*1800

          .         .         .         .         .         .       g.96180
 gtgaacaagacaactacagttcctgcctttgctgagacagcagttacactaacccttaat       c.*1860

          .         .         .         .         .         .       g.96240
 tatcttacttgtctatgaaggagataaacagggtactgtactggagaataacagatggga       c.*1920

          .         .         .         .         .         .       g.96300
 tgcttcaggtaggacatcaaggaaagcctctaaggaaaggatgcatgagctaacacctga       c.*1980

          .         .         .         .         .         .       g.96360
 cattaaagaagcaagccaagtgaggagccaggggagataagcattcctggcaaagagaat       c.*2040

          .         .         .         .         .         .       g.96420
 agcatcaaatgcaaaaaggttcacactaaaggaaactcctgattaggtattaatgcttta       c.*2100

          .         .         .         .         .         .       g.96480
 tacagaaacctctatacaaatccaaacttgaagatcagaatggttctacagttcataaca       c.*2160

          .         .         .         .         .         .       g.96540
 ttttgaaggtggccttattttgtgatagtctgcttcatgtgattctcactaacatatctc       c.*2220

          .         .         .         .         .         .       g.96600
 cttcctcaacctttgctgtaaaaatttcatttgcaccacatcagtactacttaatttaac       c.*2280

          .         .         .         .         .         .       g.96660
 aagcttttgttgtgtaagctctcactgttttagtgccctgctgcttgcttccagactttg       c.*2340

          .         .         .         .         .         .       g.96720
 tgctgtccagtaattatgtcttccactacccatcttgtgagcagagtaaatgtcctaggt       c.*2400

          .         .         .         .         .         .       g.96780
 aataccactatcaggcctgtaggagatactcagtggagcctctgcccttctttttcttac       c.*2460

          .         .         .         .         .         .       g.96840
 ttgagaacttgtaatggtgttagggaacagttgtaggggcagaaaacaactctgaaagtg       c.*2520

          .         .         .         .         .         .       g.96900
 gtagaaggtcctgatcttggtggttactcttgcattactgtgttaggtcaagcagtgcct       c.*2580

          .         .         .         .         .         .       g.96960
 actatgctgtttcagtagtggagcgcatctctacagttctgatgcgatttttctgtacag       c.*2640

          .         .         .         .         .         .       g.97020
 tatgaaattgggactcaactctttgaaaacacctattgagcagttatacctgttgagcag       c.*2700

          .         .         .         .         .         .       g.97080
 tttacttcctggttgtaattacatttgtgtgaatgtgtttgatgctttttaacgagatga       c.*2760

          .         .         .         .         .         .       g.97140
 tgttttttgtattttatctactgtggcctgattttttttttgttttctgcccctcccccc       c.*2820

          .         .         .         .         .         .       g.97200
 atttataggtgtggttttcatttttctaagtgatagaatcccctctttgttgaatttttg       c.*2880

          .         .         .         .         .         .       g.97260
 tctttatttaaattagcaacattacttaggatttattcttcacaatactgttaattttct       c.*2940

          .         .         .         .         .         .       g.97320
 aggaatgatgacctgagaaccgaatggccatgctttctatcacatttctaagatgagtaa       c.*3000

          .         .         .         .         .         .       g.97380
 tattttttccagtaggttccacagagacaccttgggggctggcttaggggaggctgttgg       c.*3060

          .         .         .         .         .         .       g.97440
 agttctcactgacttagtggcatatttattctgtactgaagaactgcatggggtttcttt       c.*3120

          .         .         .         .         .         .       g.97500
 tggaaagagtttcattgctttaaaaagaagctcagaaagtctttataaccactggtcaac       c.*3180

          .         .         .         .         .         .       g.97560
 gattagaaaaatataactggatttaggcctaccttctggaataccgctgattgtgctctt       c.*3240

          .         .         .         .         .         .       g.97620
 tttatcctactttaaagaagctttcatgattagatttgagctatatcagttataccgatt       c.*3300

          .         .         .         .         .         .       g.97680
 ataccttataatacacattcagttagtaaacatttattgatgcctgttgtttgcccagcc       c.*3360

          .         .         .         .         .         .       g.97740
 actgtgatggatattgaataataaaaagatgactaggacggggccctgacccttgagctg       c.*3420

          .         .         .         .         .         .       g.97800
 tgcttggtcttgtagaggttgtgttttttttcctcaggacctgtcactttggcagaagga       c.*3480

          .         .         .         .         .         .       g.97860
 aatctgcctaatttttcttgaaagctaaattttctttgtaagtttttacaaattgtttaa       c.*3540

          .         .         .         .         .         .       g.97920
 tacctagttgtattttttaccttaagccacattgagttttgcttgatttgtctgtctttt       c.*3600

          .         .         .         .         .         .       g.97980
 aaacactgtcaaatgctttcccttttgttaaaattattttaatttcactttttttgtgcc       c.*3660

          .         .         .         .         .         .       g.98040
 cttgtcaatttaagactaagactttgaaggtaaaacaaacaaacaaacatcagtcttagt       c.*3720

          .         .         .         .         .         .       g.98100
 ctcttgctagttgaaatcaaataaaagaaaatatatacccagttggtttctctacctctt       c.*3780

          .         .         .         .         .         .       g.98160
 aaaagcttcccatatatacctttaagatccttctcttttttctttaactactaaataggt       c.*3840

          .         .         .         .         .         .       g.98220
 tcagcatttattcagtgttagataccctcttcgtctgagggtggcgtaggtttatgttgg       c.*3900

          .         .         .         .         .         .       g.98280
 gatataaagtaacacaagacaatcttcactgtacataaaatatgtcttcatgtacagtct       c.*3960

          .         .         .         .         .         .       g.98340
 ttactttaaaagctgaacattccaatttgcgccttccctcccaagcccctgcccaccaag       c.*4020

          .         .         .         .         .         .       g.98400
 tatctctttagatatctagtctgtggacatgaacaatgaatacttttttcttactctgat       c.*4080

          .         .         .         .         .         .       g.98460
 cgaaggcattgatacttagacatatcaaacatttcttcctttcatatgctttactttgct       c.*4140

          .         .         .         .         .         .       g.98520
 aaatctattatattcattgcctgaattttattcttcctttctacctgacaacacacatcc       c.*4200

          .         .         .         .         .         .       g.98580
 aggtggtacttgctggttatcctctttcttgttagccttgttttttgttttttttttttt       c.*4260

          .         .         .         .         .         .       g.98640
 tttttgagagggagtctcgctctgttgcccaacctggagtgcagtggtgcgatcttggtt       c.*4320

          .         .         .         .         .         .       g.98700
 cactgcaagctccgcctcccgggttcacgccatgcttctgcctcagcctcccaagtagct       c.*4380

          .         .         .         .         .         .       g.98760
 gggactacaggcgcccaccaccacactcggctaattttttgtatttttagtagagacggg       c.*4440

          .         .         .         .         .         .       g.98820
 gtttcaccgtgttggccaggatggtctcgatctcctgacctcgtgatctgtccacctcgg       c.*4500

          .         .         .         .         .         .       g.98880
 cttcccaaagtgctgggattacaggcatgagccaccgcgcccagcctagccatattttta       c.*4560

          .         .         .         .         .         .       g.98940
 tctgcatatatcagaatgtttctctcctttgaacttattaacaaaaaaggaacatgcttt       c.*4620

          .         .         .         .         .         .       g.99000
 tcatacctagagtcctaatttcttcatcatgaaggttgctattcaaattgatcaatcatt       c.*4680

          .         .         .         .         .         .       g.99060
 ttaattttacaaatggctcaaaaattctgttcagtaaatgtctttgtgactggcaaatgg       c.*4740

          .         .         .         .         .         .       g.99120
 cataaattatgtttaagattatgaacttttctgacagttgcagccaatgttttccctacg       c.*4800

          .         .         .         .         .         .       g.99180
 ataccagatttccatcttggggcatattggattgttgtatttaagacagtcagaataatg       c.*4860

          .         .         .         .         .         .       g.99240
 atagtgtgtggtctccagaggtagtcagaatcctgctattgagttctttttatatcttcc       c.*4920

          .         .         .         .         .         .       g.99300
 ttttcaattttttattaccattttgtttgtttagactacactttgtagggattgaggggc       c.*4980

          .         .         .         .         .         .       g.99360
 aaattatctcttggagtggaattcctgtgttttgagccttacaaccaggaaatatgagct       c.*5040

          .         .         .         .         .         .       g.99420
 atactagatagcctcatgatagcatttacgataagaacttatctcgtgtgttcatgtaat       c.*5100

          .         .         .         .         .         .       g.99480
 tttttgagtaggaactgttttatcttgaatattgtagctaactatatatagcagaactgc       c.*5160

          .         .         .         .         .         .       g.99540
 ctcagtctttttaagaaggaaataaataatatatgtgtatgaatttatatatacatatac       c.*5220

          .         .         .         .         .         .       g.99600
 actcatagacaaacttaacagttggggtcattctaacagttaaaacaattgttccattgt       c.*5280

          .         .         .         .         .         .       g.99660
 ttaaatctcagatcctggtaaaatgttcttaatttgtctgtgtacattttcctttcatgg       c.*5340

          .         .         .         .         .         .       g.99720
 acagaccattggagtacattaattttcttaatctgccatttggcagttcatttaatatac       c.*5400

          .         .         .         .         .         .       g.99780
 cattttttggcaacttggtaactaagaatcacagccaaaatttgttaacatcaaagaaag       c.*5460

          .         .         .         .         .         .       g.99840
 ctctgccatataccccgttactaaattattatacatccagcagattctgggatgtactaa       c.*5520

          .         .         .         .         .         .       g.99900
 cttagggttaactttgttgttgttgataatactagattgctccctctttaattcttcttc       c.*5580

          .         .         .         .         .         .       g.99960
 tggtgcaaggttgctgcttaagttaccctgggaaatactactacaaggtcaaattttcta       c.*5640

          .         .         .         .         .         .       g.100020
 gtatcttacagcctgattgaaggtgattcagatctttgctcaatataaatggattttcca       c.*5700

          .         .         .         .         .         .       g.100080
 agattctctgggccatccttgacccacaggtgatctcgctggagtatattaacttaactt       c.*5760

          .         .         .         .         .         .       g.100140
 cagtgccagttggtttggtgccatgagatccataatgaatccagaacttcaccattgctt       c.*5820

          .         .         .         .         .         .       g.100200
 agatataagagtcccttggaagaataatgccactgatgatgggggtcagaaggtgtatta       c.*5880

          .         .         .         .         .         .       g.100260
 actcaacatagagggcttttagatttttcttcaaaaaaatttcgagaaaagtattctttt       c.*5940

          .         .         .         .         .         .       g.100320
 accctccaaacagttaacagctcttagtttctccaaatatgctctttgatttacttattt       c.*6000

          .         .         .         .         .         .       g.100380
 ttaattaaagatggtaatttattgaacaatgaaatccgtaatatattgatttaaggacaa       c.*6060

          .         .         .         .         .         .       g.100440
 aagtgaagttttagaattataaaagtacttaaatattatatattttccatttcataattg       c.*6120

          .         .         .         .         .         .       g.100500
 ttttcctttctctgtggctttaaagtttttgactattttacaatgttaatcactaggtaa       c.*6180

          .         .         .         .         .         .       g.100560
 cttgccatatttctggttctatattaagttctatcctttataatgctgttattataaagc       c.*6240

          .         .         .         .         .         .       g.100620
 tggtttttagcatttgtctgtagcaatagaaattttactaagtctctgttctcccagtaa       c.*6300

          .         .         .         .         .         .       g.100680
 gttttttcttttctcagtaagtccctaagaaaacatttgtttgccactcttactattccc       c.*6360

          .         .         .         .         .         .       g.100740
 aatcttggattgttcgagctgaaaaaaaatttgatgagaaacaggaggatccttttctgg       c.*6420

          .         .         .         .         .         .       g.100800
 tgaatataggttcctgctttaagaatgtggaaatccattgctttatataactaatataca       c.*6480

          .         .         .         .         .         .       g.100860
 cacagattaattaaaattgtgagaaataattcacacatgacaagtaggtaacatgcatga       c.*6540

          .         .         .         .         .         .       g.100920
 gttttgaatttttttaaaaacccaactgtttgacaaaatatagaacccaaattggtactt       c.*6600

          .         .         .         .         .         .       g.100980
 tcttagaccagtgtaacctcacacctcagttttgcttttccaaccctgacttgaaaggca       c.*6660

          .         .         .         .         .         .       g.101040
 tatttgtatctttttattagtgatagtgaagctgtgacactaaccttttatacaaaagag       c.*6720

          .         .         .         .         .         .       g.101100
 taaagaaagaaaaactacagcgattaagatgagaacagttctgcagttgttgaactagat       c.*6780

          .         .         .         .         .         .       g.101160
 cacagcattgtaggcagaataaaaaatgttcatatctgagaatattcctttcgccatctt       c.*6840

          .         .         .         .         .         .       g.101220
 ttcccaaggccagacctcctggtggagcacagttaaaagtaacattctgggcctttgtaa       c.*6900

          .         .         .         .         .         .       g.101280
 tcggagggctgtgtctccagctggcagcctttgttttaatatataatgcaggactgtgga       c.*6960

          .         .         .         .         .         .       g.101340
 aaacagttggcatagaatattttcacctaaaaaagaaagaaaagacatacaaaactggat       c.*7020

          .         .         .         .         .         .       g.101400
 taattgcaaaaagagaatacagtaaaataccatataactggacaaagctagaagaacctt       c.*7080

          .         .         .         .         .         .       g.101460
 tagaagatttgtctgaaaacagatttcaagagtgagcttttatacactgctcactaattt       c.*7140

          .         .         .         .         .         .       g.101520
 gcttgattactaccaactcttcttaaagttaacacgtttaaggtatttctggacttccta       c.*7200

          .         .         .         .         .         .       g.101580
 gccttttagcaagcttagaggaactagccattagctagtgatgtaaaaatattttgggga       c.*7260

          .         .         .         .         .         .       g.101640
 ctgatgcccttaaaggttatgcccttgaaagttcttaccttttctctagtgatattaagg       c.*7320

          .         .         .         .         .         .       g.101700
 aacgagtgggtagtgttctcagggtgaccagctgccctaaagtgcctgggattgagggtt       c.*7380

          .         .         .         .         .         .       g.101760
 tccctggatgcgggactttccctggatacaaaacttttagcagagttttgtatatatgtg       c.*7440

          .         .         .         .         .         .       g.101820
 gatttttctgataagtagcacatcagaggccttaaccactgcccaaaagcgattctccat       c.*7500

          .         .         .         .         .         .       g.101880
 tgagagtacatatcttgaacttaagaaattcatttgctctgatttttaatcttgtaaagt       c.*7560

          .         .         .         .         .         .       g.101940
 ttttgctaaactcaaaacaagtcccaggcacaccagaaggagctgaccaccttaggtgtt       c.*7620

          .         .         .         .         .         .       g.102000
 cttgtgatttatccttacttccctatgttgtcatagttgcttctaaactcagctgcacta       c.*7680

          .         .         .         .         .         .       g.102060
 tggctgtcaacatttctgatacttattgggatatgtgccatccagtcatttagtactttg       c.*7740

          .         .         .         .         .         .       g.102120
 aatggaacatgagatttataacacaggtaatagctgaaggtaccagtatggtggtgagac       c.*7800

          .         .         .         .         .         .       g.102180
 tcacacttagtgatccagctaaggtaactgatgttataatggaacagagaagaggccaac       c.*7860

          .         .         .         .         .         .       g.102240
 tagatagctaagttcttctgaacctatgtgtatatgtaagtacaaatcatgcgtccttat       c.*7920

          .         .         .         .         .         .       g.102300
 ggggttaaacttaatctgaaatttacatttttcatagtaaaaggaaaccaattgttgcag       c.*7980

          .         .         .         .         .         .       g.102360
 atttcttttcttgtgaggaaatacatggcctttgatgctctggcgtctactgcatttccc       c.*8040

          .         .         .         .         .         .       g.102420
 agtctgttctgctcgagaagccagaatgtgttgttaacatttttccgtgaatgttgtgtt       c.*8100

          .         .         .         .         .         .       g.102480
 aaaatgattaaatgcatcagccaatggcaagtgaaggaattgggtgtcctgatgcagact       c.*8160

          .         .         .         .         .         .       g.102540
 gagcagtttctctcaattgtagcctcatactcataaggtgcttaccagctagaacattga       c.*8220

          .         .         .         .         .         .       g.102600
 gcacgtgaggtgagattttttttctctgatggcattaactttgtaatgcaatatgatgga       c.*8280

          .         .         .         .         .         .       g.102660
 tgcagaccctgttcttgtttccctctggaagtccttagtggctgcatccttggtgcactg       c.*8340

          .         .         .         .         .         .       g.102720
 tgatggagatattaaatgtgttctttgtgagctttcgttctatgattgtcaaaagtacga       c.*8400

          .         .         .         .         .         .       g.102780
 tgtggttccttttttatttttattaaacaatgagctgaggctttattacagctggttttc       c.*8460

          .         .         .         .         .         .       g.102840
 aagttaaaattgttgaatactgatgtctttctcccacctacaccaaatattttagtctat       c.*8520

          .         .         .         .         .         .       g.102900
 ttaaagtacaaaaaaagttctgcttaagaaaacattgcttacatgtcctgtgatttctgg       c.*8580

          .         .         .         .         .         .       g.102960
 tcaatttttatatatatttgtgtgcatcatctgtatgtgctttcactttttaccttgttt       c.*8640

          .         .         .         .         .         .       g.103020
 gctcttacctgtgttaacagccctgtcaccgttgaaaggtggacagttttcctagcatta       c.*8700

          .         .         .                                     g.103052
 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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