activin A receptor, type IIB (ACVR2B) - coding DNA reference sequence

(used for variant description)

(last modified February 17, 2026)


This file was created to facilitate the description of sequence variants on transcript NM_001106.3 in the ACVR2B gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NC_000003.11, covering ACVR2B transcript NM_001106.3.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                         .         .                g.5024
                                     gtgcgcggggcggcgccgcggaac       c.-1

          .         .         .         .         .   | 02     .    g.27996
 ATGACGGCGCCCTGGGTGGCCCTCGCCCTCCTCTGGGGATCGCTGTGCGCCG | GCTCTGGG    c.60
 M  T  A  P  W  V  A  L  A  L  L  W  G  S  L  C  A  G |   S  G      p.20

          .         .         .         .         .         .       g.28056
 CGTGGGGAGGCTGAGACACGGGAGTGCATCTACTACAACGCCAACTGGGAGCTGGAGCGC       c.120
 R  G  E  A  E  T  R  E  C  I  Y  Y  N  A  N  W  E  L  E  R         p.40

          .         .         .         .         .         .       g.28116
 ACCAACCAGAGCGGCCTGGAGCGCTGCGAAGGCGAGCAGGACAAGCGGCTGCACTGCTAC       c.180
 T  N  Q  S  G  L  E  R  C  E  G  E  Q  D  K  R  L  H  C  Y         p.60

          .         .         .         .         .         .       g.28176
 GCCTCCTGGCGCAACAGCTCTGGCACCATCGAGCTCGTGAAGAAGGGCTGCTGGCTAGAT       c.240
 A  S  W  R  N  S  S  G  T  I  E  L  V  K  K  G  C  W  L  D         p.80

          .         . | 03       .         .         .         .    g.28602
 GACTTCAACTGCTACGATAG | GCAGGAGTGTGTGGCCACTGAGGAGAACCCCCAGGTGTAC    c.300
 D  F  N  C  Y  D  R  |  Q  E  C  V  A  T  E  E  N  P  Q  V  Y      p.100

          .         .         .         .         .         .       g.28662
 TTCTGCTGCTGTGAAGGCAACTTCTGCAACGAACGCTTCACTCATTTGCCAGAGGCTGGG       c.360
 F  C  C  C  E  G  N  F  C  N  E  R  F  T  H  L  P  E  A  G         p.120

          . | 04       .         .         .         .         .    g.28892
 GGCCCGGAAG | TCACGTACGAGCCACCCCCGACAGCCCCCACCCTGCTCACGGTGCTGGCC    c.420
 G  P  E  V |   T  Y  E  P  P  P  T  A  P  T  L  L  T  V  L  A      p.140

          .         .         .         .         .         .       g.28952
 TACTCACTGCTGCCCATCGGGGGCCTTTCCCTCATCGTCCTGCTGGCCTTTTGGATGTAC       c.480
 Y  S  L  L  P  I  G  G  L  S  L  I  V  L  L  A  F  W  M  Y         p.160

          .         .         .         .   | 05     .         .    g.29094
 CGGCATCGCAAGCCCCCCTACGGTCATGTGGACATCCATGAG | GACCCTGGGCCTCCACCA    c.540
 R  H  R  K  P  P  Y  G  H  V  D  I  H  E   | D  P  G  P  P  P      p.180

          .         .         .         .         .         .       g.29154
 CCATCCCCTCTGGTGGGCCTGAAGCCACTGCAGCTGCTGGAGATCAAGGCTCGGGGGCGC       c.600
 P  S  P  L  V  G  L  K  P  L  Q  L  L  E  I  K  A  R  G  R         p.200

          .         .         .         .         .         .       g.29214
 TTTGGCTGTGTCTGGAAGGCCCAGCTCATGAATGACTTTGTAGCTGTCAAGATCTTCCCA       c.660
 F  G  C  V  W  K  A  Q  L  M  N  D  F  V  A  V  K  I  F  P         p.220

        | 06 .         .         .         .         .         .    g.29883
 CTCCAG | GACAAGCAGTCGTGGCAGAGTGAACGGGAGATCTTCAGCACACCTGGCATGAAG    c.720
 L  Q   | D  K  Q  S  W  Q  S  E  R  E  I  F  S  T  P  G  M  K      p.240

          .         .         .         .         .         .       g.29943
 CACGAGAACCTGCTACAGTTCATTGCTGCCGAGAAGCGAGGCTCCAACCTCGAAGTAGAG       c.780
 H  E  N  L  L  Q  F  I  A  A  E  K  R  G  S  N  L  E  V  E         p.260

          .         .         . | 07       .         .         .    g.30409
 CTGTGGCTCATCACGGCCTTCCATGACAAG | GGCTCCCTCACGGATTACCTCAAGGGGAAC    c.840
 L  W  L  I  T  A  F  H  D  K   | G  S  L  T  D  Y  L  K  G  N      p.280

          .         .         .         .         .         .       g.30469
 ATCATCACATGGAACGAACTGTGTCATGTAGCAGAGACGATGTCACGAGGCCTCTCATAC       c.900
 I  I  T  W  N  E  L  C  H  V  A  E  T  M  S  R  G  L  S  Y         p.300

          .         .         .         .         .          | 08    g.32053
 CTGCATGAGGATGTGCCCTGGTGCCGTGGCGAGGGCCACAAGCCGTCTATTGCCCACAG | G    c.960
 L  H  E  D  V  P  W  C  R  G  E  G  H  K  P  S  I  A  H  R  |      p.320

          .         .         .         .         .         .       g.32113
 GACTTTAAAAGTAAGAATGTATTGCTGAAGAGCGACCTCACAGCCGTGCTGGCTGACTTT       c.1020
 D  F  K  S  K  N  V  L  L  K  S  D  L  T  A  V  L  A  D  F         p.340

          .         .         .         .         .     | 09   .    g.32905
 GGCTTGGCTGTTCGATTTGAGCCAGGGAAACCTCCAGGGGACACCCACGGACAG | GTAGGC    c.1080
 G  L  A  V  R  F  E  P  G  K  P  P  G  D  T  H  G  Q   | V  G      p.360

          .         .         .         .         .         .       g.32965
 ACGAGACGGTACATGGCTCCTGAGGTGCTCGAGGGAGCCATCAACTTCCAGAGAGATGCC       c.1140
 T  R  R  Y  M  A  P  E  V  L  E  G  A  I  N  F  Q  R  D  A         p.380

          .         .         .         .         .         .       g.33025
 TTCCTGCGCATTGACATGTATGCCATGGGGTTGGTGCTGTGGGAGCTTGTGTCTCGCTGC       c.1200
 F  L  R  I  D  M  Y  A  M  G  L  V  L  W  E  L  V  S  R  C         p.400

          .    | 10    .         .         .         .         .    g.33178
 AAGGCTGCAGACG | GACCCGTGGATGAGTACATGCTGCCCTTTGAGGAAGAGATTGGCCAG    c.1260
 K  A  A  D  G |   P  V  D  E  Y  M  L  P  F  E  E  E  I  G  Q      p.420

          .         .         .         .         .         .       g.33238
 CACCCTTCGTTGGAGGAGCTGCAGGAGGTGGTGGTGCACAAGAAGATGAGGCCCACCATT       c.1320
 H  P  S  L  E  E  L  Q  E  V  V  V  H  K  K  M  R  P  T  I         p.440

          .         .     | 11   .         .         .         .    g.33875
 AAAGATCACTGGTTGAAACACCCG | GGCCTGGCCCAGCTTTGTGTGACCATCGAGGAGTGC    c.1380
 K  D  H  W  L  K  H  P   | G  L  A  Q  L  C  V  T  I  E  E  C      p.460

          .         .         .         .         .         .       g.33935
 TGGGACCATGATGCAGAGGCTCGCTTGTCCGCGGGCTGTGTGGAGGAGCGGGTGTCCCTG       c.1440
 W  D  H  D  A  E  A  R  L  S  A  G  C  V  E  E  R  V  S  L         p.480

          .         .         .         .         .         .       g.33995
 ATTCGGAGGTCGGTCAACGGCACTACCTCGGACTGTCTCGTTTCCCTGGTGACCTCTGTC       c.1500
 I  R  R  S  V  N  G  T  T  S  D  C  L  V  S  L  V  T  S  V         p.500

          .         .         .                                     g.34034
 ACCAATGTGGACCTGCCCCCTAAAGAGTCAAGCATCTAA                            c.1539
 T  N  V  D  L  P  P  K  E  S  S  I  X                              p.512

          .         .         .         .         .         .       g.34094
 gcccaggacatgagtgtctgtccagactcagtggatctgaagaaaaaaggaaaaaaagtt       c.*60

          .         .         .         .         .         .       g.34154
 gtgttttgttttggaaatcccataaaaccaacaaacacataaaatgcagctgctatttta       c.*120

          .         .         .         .         .         .       g.34214
 ccttgactttttattattattattataattattataattattattattaatattattttt       c.*180

          .         .         .         .         .         .       g.34274
 tggattggatcagtttttaccagcatattgctctactgtatcacaaacagcggacacgtc       c.*240

          .         .         .         .         .         .       g.34334
 agcaggcgttgaggtgctgagctgtggatgcagaaccagcgccatgctgaagagcctcag       c.*300

          .         .         .         .         .         .       g.34394
 ccacctcctgtcctttgggattcgtttttcccgctttctctttgtttgtcgtctcagaat       c.*360

          .         .         .         .         .         .       g.34454
 ctgtgacacaaagaaacccatctcctgtcttaggaaacctaatgctgcaaactctaccta       c.*420

          .         .         .         .         .         .       g.34514
 gaggaacctttgaagactgttacataagaacataccttcctcagaagaggagtttcctct       c.*480

          .         .         .         .         .         .       g.34574
 gccctctgcccttctcccctgcctccctccctcccctccttttattttgttttagtgagc       c.*540

          .         .         .         .         .         .       g.34634
 ttaagaaacagcagatgtgtctttcacggatctaacgggtgttgtcctgatcgagaaaaa       c.*600

          .         .         .         .         .         .       g.34694
 aactgggatgagaatggtttggactggagttggaaggggaggacggtactgggggtaggg       c.*660

          .         .         .         .         .         .       g.34754
 tttggaacagagctacactggactcgggcacattcggagcagcatcctttagtatggagg       c.*720

          .         .         .         .         .         .       g.34814
 ctacttctcaggtaaccaggaattgaggggaaggaccttgtggaggccgagcattaacag       c.*780

          .         .         .         .         .         .       g.34874
 caagagcggggtttggagaaagtctgagattgggtgcagccctgacttacctgctggccc       c.*840

          .         .         .         .         .         .       g.34934
 tgaccagtttcttttcactaacttggccttgggcataggatgaaacattttttctgccct       c.*900

          .         .         .         .         .         .       g.34994
 aattttaaaactaggtgagggtagaatcatcacaggttaggaatacattcttcataagac       c.*960

          .         .         .         .         .         .       g.35054
 acgatgctgtaaatacccttaatggacgaaaagttgaaatacttttgtttcctcttggag       c.*1020

          .         .         .         .         .         .       g.35114
 cagttcagggaaatgcccacaggggattgtcctgcacagatagggcaagaggatttcctg       c.*1080

          .         .         .         .         .         .       g.35174
 ggtggagtctgccaaggcctgcctcgctggggaccccagagtcctgcacctctggttccg       c.*1140

          .         .         .         .         .         .       g.35234
 ccccaggtggtgacattactgtccccgttctgtggctcgtggacaagactttctccagac       c.*1200

          .         .         .         .         .         .       g.35294
 cccttaaagtggtacatattctaaaaaactgtttttctattatgccataaccttgctcta       c.*1260

          .         .         .         .         .         .       g.35354
 gtcagtgaatgttcctaatgctgctgtttcaacatttgaattctttttaatttatgaaac       c.*1320

          .         .         .         .         .         .       g.35414
 atgctaaattttttttttcaaacaaaacacacacatccacatatacacatgcttcgctat       c.*1380

          .         .         .         .         .         .       g.35474
 gtggcttccaaggtttaaattttgaaaagtaaaagaattaaaacttcacgaccacagatc       c.*1440

          .         .         .         .         .         .       g.35534
 acctcaaaccagaaatacctcagaattttctacttatgtaaggtttattatatattttgt       c.*1500

          .         .         .         .         .         .       g.35594
 tagttgtgttgtcttgtagtaagtatattttaatgtaagttggcttttgtgacaaggaag       c.*1560

          .         .         .         .         .         .       g.35654
 tttaaaagaaatagagaaaaagaaaaaagtttgcatcttctagggagtgctaccattttt       c.*1620

          .         .         .         .         .         .       g.35714
 gtttgataacgcccccttgtaaataattgtcatcaactgtaggttggctgtctgggccaa       c.*1680

          .         .         .         .         .         .       g.35774
 gtctgggcatttatcagtcttgtttgtgaaggcttttccttctggtttctttagatcatt       c.*1740

          .         .         .         .         .         .       g.35834
 ttatttaaaaacagtgcatctcttcatcgtgagggtaggcaaggcgggggccgtggggag       c.*1800

          .         .         .         .         .         .       g.35894
 aggttgacctgggtgagaactgaagaggccgcctcctcttgggttgtttggagcttcaca       c.*1860

          .         .         .         .         .         .       g.35954
 tgtaattcacatgtaacatgtaacttgatcggtcagtgttcagaatgacaagtaaccccg       c.*1920

          .         .         .         .         .         .       g.36014
 cttaaacttggtagaaggatggcccttagacctgaatggggtgattttacttgggattta       c.*1980

          .         .         .         .         .         .       g.36074
 acttcttcagcaaattaacagcaacgttggaagagatctgtggcgcctctgtgaagcaca       c.*2040

          .         .         .         .         .         .       g.36134
 ccgtgactcaggccagtcttttagtgcagcgtgtctgggagtgaagggttttgcccttgc       c.*2100

          .         .         .         .         .         .       g.36194
 tggtcttggagtccacagtgtgaggggcactgcacatgcctgggcatctacctagtgtgc       c.*2160

          .         .         .         .         .         .       g.36254
 tatgttcagtgtctggggcttactgccccggggtcctttcctctgggtgttggggcacag       c.*2220

          .         .         .         .         .         .       g.36314
 ggtgctatgggaggcccatttgcttccctctcggagctcagtttttgcttcatgggtcaa       c.*2280

          .         .         .         .         .         .       g.36374
 aatgtgggctggccaagtggttacaggaacagggtttcggtaagctatgttgtctttttt       c.*2340

          .         .         .         .         .         .       g.36434
 tttttttttttttttttttttaatggtttgattttgtgctgtggtattttttttccctta       c.*2400

          .         .         .         .         .         .       g.36494
 gaataatttttaatggcaaaacaggccttacagcagttgcttttctttaccatttatttc       c.*2460

          .         .         .         .         .         .       g.36554
 tttaagaagctttaaaatatttattgaaaagtgccatatctaatttctttagctttcgcc       c.*2520

          .         .         .         .         .         .       g.36614
 tcaggcagtgcaggcatctttacttttcatcctcagaagaaacaaacgactaacaaatgt       c.*2580

          .         .         .         .         .         .       g.36674
 agcaaatttactgcaggaatagttaggtcatgatactacctgaacactaaaccccagcct       c.*2640

          .         .         .         .         .         .       g.36734
 ctttgtttggttttagttcctctgggtggtttttcttttgtgtgctggcttgattcttgt       c.*2700

          .         .         .         .         .         .       g.36794
 gagaagttttgacctggccaagggagggttgagccatggttctggtgtgggactttgcgg       c.*2760

          .         .         .         .         .         .       g.36854
 tcaagacacagtacagacaggtcaggcctgcgtgccttttctctgggtggcctccccgtt       c.*2820

          .         .         .         .         .         .       g.36914
 aggcccaccgtacgctcagccactatagtgtccctgtggggccttgccatcagattgtgt       c.*2880

          .         .         .         .         .         .       g.36974
 gtcaggagatggtacctttttggtgtggctggggaggagtgtggtccatgccagttcttt       c.*2940

          .         .         .         .         .         .       g.37034
 gggcttcaggccactcttcccctcatgctgtggtgtaaagtgcacccatcaggtggtata       c.*3000

          .         .         .         .         .         .       g.37094
 tctggttctgatggcaagaagaaggtgggggatctccttatagggcatgggtctaggagc       c.*3060

          .         .         .         .         .         .       g.37154
 acagatgggccttttgccccgggtaaatgcttgtctgtttgctgtcatgtgttctttgag       c.*3120

          .         .         .         .         .         .       g.37214
 gagtgagccatctcgagccctgctttgaatttactgggtcatagagcctctgcctgtgct       c.*3180

          .         .         .         .         .         .       g.37274
 cttttccataatgacttcatgtgacatgcacttttggtgggctcagataattggtttctt       c.*3240

          .         .         .         .         .         .       g.37334
 tttgtttttgacctcaggctctgtggcagactggggaaaatggggcctggcatcattttc       c.*3300

          .         .         .         .         .         .       g.37394
 cctgtcaatgggaggggctgttccatgcagggtgggaggggaccaagttagcagagagta       c.*3360

          .         .         .         .         .         .       g.37454
 gccaaggatccttgcttcttcctttctagtgtgctgtcatccaagcaggctcctggctgt       c.*3420

          .         .         .         .         .         .       g.37514
 agggatgggccttggggaagaatcttctttgaaagcatctatgataactgagaagtcatc       c.*3480

          .         .         .         .         .         .       g.37574
 cctagttggagaaatccagtaatgagcagaaggaggaagcaagtgaggacagaggccatt       c.*3540

          .         .         .         .         .         .       g.37634
 gtattacagtgtcacgcagagggccctcaatgatggggcattggggaaggctgtagacat       c.*3600

          .         .         .         .         .         .       g.37694
 agtcatcagaacatcctggcctggcataagctgggttttctcctgggaccattggtcctc       c.*3660

          .         .         .         .         .         .       g.37754
 agcaggagttctttgcatgagttgctcaggggcaagggctgcaagtgggctgtgcttagg       c.*3720

          .         .         .         .         .         .       g.37814
 agaaagtgacacctggcagtgagggaagatggtgagcattattagcctttgttgtccagc       c.*3780

          .         .         .         .         .         .       g.37874
 atggccttcttgtcctgtctgctctggagaggagcctgtgggaccagtcctgcctgggga       c.*3840

          .         .         .         .         .         .       g.37934
 gggcatacccacacgtgccagctgattctgactctgaatacatcatgtccggacttgggg       c.*3900

          .         .         .         .         .         .       g.37994
 gtgtttctgcagaaaaaggaggttgtttttcagccttgaacatcttcaggaggatagaga       c.*3960

          .         .         .         .         .         .       g.38054
 ctcttgctcacatattcttagcaaagggaagggtctctcatctccaggccacagagatag       c.*4020

          .         .         .         .         .         .       g.38114
 ttcttccattgccctaagaggctaggctaaccctcttgacataacttagacagcaaagca       c.*4080

          .         .         .         .         .         .       g.38174
 cttcatcctgtagttgggctctgtcacctttctcttcagttggccacattctcgtttcct       c.*4140

          .         .         .         .         .         .       g.38234
 ccatcctgctatgctttgtgtgctcgggctgtgtgtggggtttttccctggtggaaggaa       c.*4200

          .         .         .         .         .         .       g.38294
 gcccagctgtgtattgaatgtccttcatgtgttgtgtgtggctcagaaagcctgtcactt       c.*4260

          .         .         .         .         .         .       g.38354
 ggcccctgtgctctgagccgtgagggtggggaggtggctgttccattaaagtgggagtat       c.*4320

          .         .         .         .         .         .       g.38414
 tggatggccctcttgaaactagaattttgccttttttagtatgcagtataaagtttccag       c.*4380

          .         .         .         .         .         .       g.38474
 catctattggtaacacaaagatttgctggtttttaaaataatacagtaagcataagtatg       c.*4440

          .         .         .         .         .         .       g.38534
 taagtttttagaattggtactagaagttggacagctagttattctcgagaactttatttc       c.*4500

          .         .         .         .         .         .       g.38594
 actagaaaaatatactaattggaaagcagtttccaggagttaactcagtttaattttcag       c.*4560

          .         .         .         .         .         .       g.38654
 tctcagttattttagcctgttgagtttttgatggcacacctttggagagatggccacgcc       c.*4620

          .         .         .         .         .         .       g.38714
 tgattcccatttcaggggcatcagaccatacctttttaagaagctccgtgaatctagtca       c.*4680

          .         .         .         .         .         .       g.38774
 tctacccttcatcctgggcgaacagccaaaaagagaaggggacaaggtgtctttttctcc       c.*4740

          .         .         .         .         .         .       g.38834
 ttctcactggggtgacatgaattcttttagttaatggctgtttgcaaattctaaactaat       c.*4800

          .         .         .         .         .         .       g.38894
 gaaatacttagcagctaacatgttcaatctagtaatgatgagtttaaatctcaattgaca       c.*4860

          .         .         .         .         .         .       g.38954
 gtaatgttttagataaacaggcccagtaattcagttgatgaactgtatatcttctcagtc       c.*4920

          .         .         .         .         .         .       g.39014
 tagatttgtaaatgtttaatgaattcagggttataagcatagttctttaagtaagattcc       c.*4980

          .         .         .         .         .         .       g.39074
 agatagttgatttgcaaccagcagtctacctatgaatgtatcccaaacctttagaagatt       c.*5040

          .         .         .         .         .         .       g.39134
 ggaaaagatttttgaaataatgatttagttttgtaggaaaaacacccccttgaaaattaa       c.*5100

          .         .         .         .         .         .       g.39194
 ttcggttgacccagtaacattttttaaaacaattggtggctccaaaaggcctgccaacaa       c.*5160

          .         .         .         .         .         .       g.39254
 agaaaagtccaaattatctagtgggacattttgaatgttttatgtttattttgggtccac       c.*5220

          .         .         .         .         .         .       g.39314
 tgtaaactttggttcaaaaaagaatttgaatttaaagaatttaccattatttaaattatt       c.*5280

          .         .         .         .         .         .       g.39374
 accaagtttttacattttcatgatggtattttccaggtatgaatgaaacatgactttttg       c.*5340

          .         .         .         .         .         .       g.39434
 attgtggtacttcctgtatcccctgtagtgccaaaaccagtgatactttatttgctccta       c.*5400

          .         .         .         .         .         .       g.39494
 tggcagctcatagaggtaaccgaagtgatttttcctcagtaattgaaacacatattctct       c.*5460

          .         .         .         .         .         .       g.39554
 aaatgccaatgtgtggtgatgggccctgcactgccttcatttctctagggcagtgtcttt       c.*5520

          .         .         .         .         .         .       g.39614
 ggattgtctagggcctaggtaattctgagaactactgtaaaccaaccacagggcactaaa       c.*5580

          .         .         .         .         .         .       g.39674
 gcaatgtacacaccactctttgtgtgtatggaaggggttatataaacctgggctatgctg       c.*5640

          .         .         .         .         .         .       g.39734
 gacatctacagaagagtattacattcacttgcaaagtttacatttttgagctcacagtta       c.*5700

          .         .         .         .         .         .       g.39794
 tgaaaaatatgacccacaagtttttcaggcaggtgaggatgggtcttcttgcaaatgcat       c.*5760

          .         .         .         .         .         .       g.39854
 gagttctgtcttgagtcctgggaacttctctgttggttgagtgtgggctcattccctgac       c.*5820

          .         .         .         .         .         .       g.39914
 tctcctaatcatgtttgcgtcagaatgttagcattgtaaataaaagaataggttgtataa       c.*5880

          .         .         .         .         .         .       g.39974
 tagatacacaacacttgaaactttactttaaaaaaatcgatagttctacatatatattta       c.*5940

          .         .         .         .         .         .       g.40034
 gttatatcacttgacagatttcttctacacagtgtggagattgttttataccacagatta       c.*6000

          .         .         .         .         .         .       g.40094
 tttttataaagttagtgaatttgaatgattttgtaatcagagctaatgagctttaccttt       c.*6060

          .         .         .         .         .         .       g.40154
 caagagaaacgtacactggagcatgagtggtgtggaacttttacttagtgtttatatgga       c.*6120

          .         .         .         .         .         .       g.40214
 ttcttgtgatacactggcagactggagtcaatttgcgggtcttttttggccaaaactcca       c.*6180

          .         .         .         .         .         .       g.40274
 cttgtggttgtgtaggacagtgatattcagctcagcttcttgtggattgggaggagagag       c.*6240

          .         .         .         .         .         .       g.40334
 ggcctgcaatgtgttttacattggtgcttcctcctgagatttctgttgaacaaagggttc       c.*6300

          .         .         .         .         .         .       g.40394
 tgaggtcaaaaattagtttgtaagcctttgccataggacatagtcatgtgagagtgtttg       c.*6360

          .         .         .         .         .         .       g.40454
 ggggaacagaaattgtataggggtgcctattggggtgggatgggactcgaataagattca       c.*6420

          .         .         .         .         .         .       g.40514
 ggtacaaaaactttgaaatgagaatctggtggtttgagtaatccaccagactgaattatc       c.*6480

          .         .         .         .         .         .       g.40574
 taagatcacattatccaggttggggggcagaattacccagttaagtaattgttcagaaaa       c.*6540

          .         .         .         .         .         .       g.40634
 gtggggagggtggcatgtggatgcagtgatccaattaaatggagagctgccaggcacatt       c.*6600

          .         .         .         .         .         .       g.40694
 ttgtcctctctggtcagtgagaatggttgggttggctcgctgcttcaatctgtggaatca       c.*6660

          .         .         .         .         .         .       g.40754
 gccaggagcccagtgaggaagctcagaaccccagtaacagcagagcatctttcagatagc       c.*6720

          .         .         .         .         .         .       g.40814
 tccagagttttcctgcttttctgaggaagctcagcatcactgccacaatacggaaagtgg       c.*6780

          .         .         .         .         .         .       g.40874
 tcttcattttagcctatttatttttaggcagagagtggatggttatttgtgtgggacttt       c.*6840

          .         .         .         .         .         .       g.40934
 tggtggcgatatataatgaataattaagttaatttctggtatgcataatggccagtcctg       c.*6900

          .         .         .         .         .         .       g.40994
 aggcccagctgaagacctgtcccccagaccctgcccgctggcttcaggctgctgcttcta       c.*6960

          .         .         .         .         .         .       g.41054
 gacagaggtgcactggacgggatagttttatcaagagaatccctaatgtgtcattttaaa       c.*7020

          .         .         .         .         .         .       g.41114
 ccagctgtgctttttattcattctggttgagcgtataggtttacactttaccctttttat       c.*7080

          .         .         .         .         .         .       g.41174
 acttggaataaatttagttccagcagatctagtagcactccagaaaccaaccccatctgt       c.*7140

          .         .         .         .         .         .       g.41234
 tccccataaaaagaacattttctctgctctccagccacgtgtcttggaatgtaattctgt       c.*7200

          .         .         .         .         .         .       g.41294
 tgtgcctttgtttttatcactctcttcgccccaaaagcaactgctgtaagcttttttcta       c.*7260

          .         .         .         .         .         .       g.41354
 cttgtcttttctagtccccaacctctacctttttcctttttcccagccctaatttctgga       c.*7320

          .         .         .         .         .         .       g.41414
 tgcacttctgtgatccaggtattttaagaaccagttacctcagacctcatgttgaacagt       c.*7380

          .         .         .         .         .         .       g.41474
 gtcgccatctgggtcctcttgatactgcagacttttaacgtacacatgcaggaaccctgc       c.*7440

          .         .         .         .         .         .       g.41534
 tgagcgtgggcacttgttttaaagcaaaactcttcccaaggactgaagaaagggcttctg       c.*7500

          .         .         .         .         .         .       g.41594
 gcaagctcgtcatggcattgtggtgggatgggtctagagtgtcatctgaatggtgcttcc       c.*7560

          .         .         .         .         .         .       g.41654
 tgtgttcctctttgaattctgccattttcagtattcttgtgtgtctgaataggcaaagcg       c.*7620

          .         .         .         .         .         .       g.41714
 atttaattggctggtcttgcacgcaaattagttccaaagataagctctttgtaacacatt       c.*7680

          .         .         .         .         .         .       g.41774
 tccagtcgctaatgctcaaatgtagaacattcctttaaatggcaggataaaaaacccact       c.*7740

          .         .         .         .         .         .       g.41834
 atccaccatagtgcattttgggaagatgtctgtagcatatgttgctgtgaaattaggcct       c.*7800

          .         .         .         .         .         .       g.41894
 tgtgggatatggctgtttgtcattttgatgtattttaaataaatatatatattttttaaa       c.*7860

          .         .         .         .         .         .       g.41954
 gagccttttttaccagttcaaaaagtttaattaaccagcagtcaccgcatctgaattttt       c.*7920

          .         .         .         .         .         .       g.42014
 gtctctggggcatagatggcagaccaagattaaaagtggtaactcagctatacgagcatg       c.*7980

          .         .         .         .         .         .       g.42074
 ggctaccttcctgggctctcctgcagtcctgtagacctgctgttccgcagaccatgggac       c.*8040

          .         .         .         .         .         .       g.42134
 acaaggtcagtgtgttcccagtgagggtcccaagtcagtcatcttaagtgtttgttctct       c.*8100

          .         .         .         .         .         .       g.42194
 gccccattcagtggactgttgacttcagtccctgcaagtgctttagcccgagtggggttt       c.*8160

          .         .         .         .         .         .       g.42254
 tctcagagcactgccacgagttaagtgtgtgtttagccaaataatttctccgtaagggaa       c.*8220

          .         .         .         .         .         .       g.42314
 aaatgcagtcacccaaattttaccaacaatgacagagatgagagtagaaaagattaggca       c.*8280

          .         .         .         .         .         .       g.42374
 acatctgagttttaacttgaaaagtgtccaagtcatcatgaaaggccgactgggagcaag       c.*8340

          .         .         .         .         .         .       g.42434
 tgattattagagattcttcaggagacctcatctgaaaatgttaagactgccagtgaggga       c.*8400

          .         .         .         .         .         .       g.42494
 aggaattgttaaaatgccagcggcttttttttcctctttttttctgtaattctgtaaaaa       c.*8460

          .         .         .         .         .         .       g.42554
 tgcagagaaagttgagtggtacttcagaattgagggagagggttaccgcagagtagaaat       c.*8520

          .         .         .         .         .         .       g.42614
 atatttctagatttcagttccacaccacaaatccacaacaatgccatttttcaactgtac       c.*8580

          .         .         .         .         .         .       g.42674
 aaaaatctgcttatgaactggacatgatcttaatggtagtgtcaaaggccaagtttttca       c.*8640

          .         .         .         .         .         .       g.42734
 cctgttaatatttttccacatttgtccttgaatctgaataactttatacagtactgtaaa       c.*8700

          .         .         .         .         .         .       g.42794
 tttaacttacatcgagtttgttgtcaattcttatgaaaagagctttctgcatgtaacaca       c.*8760

          .         .         .         .         .         .       g.42854
 tacggttaaagaacacagcaaaggacaaaatttgcaggaacagttttggaaccaacagaa       c.*8820

          .         .         .         .         .         .       g.42914
 aatgtcaccttttatttgccatcttatatatatctatcagttttaccagctacttctaaa       c.*8880

          .         .         .         .         .         .       g.42974
 tttgtacattatttgtaagggaaagaaggaaaaccctaagacttgtctaacttagtggag       c.*8940

          .         .         .         .         .         .       g.43034
 aatgtgtgtgttgggcttaggatggatagctaagtcttattgagctgtgttacctaactt       c.*9000

          .         .         .         .         .         .       g.43094
 gtatataaaaattgtaattaaaagtttgggttcacctgtttctcacagtttaaaatgatg       c.*9060

          .         .         .         .         .         .       g.43154
 agtaattgcaaactctggaaatgtgactagtatatgatttaaggctgtagaagcaaggaa       c.*9120

          .         .         .         .         .         .       g.43214
 gctctttcaagtgctaaaactaaagacttctagtttttggctcaaataagtactgtttgt       c.*9180

          .         .         .         .         .         .       g.43274
 ataccaggatatgtgagatgtaaatgtagtaggtcacttttcacccttgtagctataaaa       c.*9240

          .         .         .         .         .         .       g.43334
 taaaaattttgtagaacagaaatagcttgtactactgaattaacaaaagttatactaaag       c.*9300

          .         .         .         .         .         .       g.43394
 tatcatgtttaaaaaaaatatatatatatatacagagttaagcttgttgctgttaccctg       c.*9360

          .         .         .         .         .         .       g.43454
 tctggatttgaaaagtgtgctgatttatatatatatattacacacacacacacacacaca       c.*9420

          .         .         .         .         .         .       g.43514
 cacacacacacacacacacacacacacacacacacacacacacacacacacatacaccta       c.*9480

          .         .         .         .         .         .       g.43574
 aaatggcctaaagcagacatccatgtaattacagttgcaaaatgaaaacattttggaaag       c.*9540

          .         .         .         .         .         .       g.43634
 aacattgtatcatagttcattcatttgcagtggatctttgttcctttttactgtggtaat       c.*9600

          .         .         .         .         .         .       g.43694
 tttagaaatgagtgtcaagtttgaaattagatctgctaagttggggttttgctgcttgaa       c.*9660

          .         .         .         .         .         .       g.43754
 ctctgcactgggtcctcaaataaaccgatgtgaatgtagttttttccccctgtgtgaaga       c.*9720

          .         .         .         .         .         .       g.43814
 agcagttacaccccaacaataggaggaaaaatctagaactatttcaagttttatcttttt       c.*9780

          .         .         .                                     g.43844
 gtatatgaaaataaaataataataaaacaa                                     c.*9810

 (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 Activin A receptor, type IIB 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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