bone morphogenetic protein receptor, type II (serine/threonine kinase) (BMPR2) - coding DNA reference sequence

(used for variant description)

(last modified October 14, 2016)


This file was created to facilitate the description of sequence variants on transcript NM_001204.6 in the BMPR2 gene based on a coding DNA reference sequence following the HGVS recommendations.

The sequence was taken from NG_009363.1, covering BMPR2 transcript NM_001204.6.


Please note that introns are available by clicking on the exon numbers above the sequence.
 (upstream sequence)
                                                                    g.5008
                                                     gactcccc       c.-1141

 .         .         .         .         .         .                g.5068
 cctttgtgtctggtctgctcggagccactggaagtgcctcccggagggacgcagggtgtc       c.-1081

 .         .         .         .         .         .                g.5128
 tcgccgcctccctgcccacccccttccccggctaccttcatccgccctcccgccgccccc       c.-1021

 .         .         .         .         .         .                g.5188
 cgccctcggtccgcgacgcccgagttccgtcaggagcccagagctgcgggagaacgaggc       c.-961

 .         .         .         .         .         .                g.5248
 ggcggcggcggcggcggcggcggcggcggcggcagcagcagcggcttcctcggggggttg       c.-901

 .         .         .         .         .         .                g.5308
 tgattcgctcacaggagccattgacgggagaagaggaggctttcttggtggaatttacct       c.-841

 .         .         .         .         .         .                g.5368
 caggcaagatcgagccgcaggaataaaaagcgaggaagggaagggagcgccgccgggagg       c.-781

 .         .         .         .         .         .                g.5428
 actagaaggggcagcctctcacacccactccgcctgccgtctcggggagcccggaccggg       c.-721

 .         .         .         .         .         .                g.5488
 gccgcgaccgcgacccctcccctcccccgctcctacctctcctcagccttcgccagggcc       c.-661

 .         .         .         .         .         .                g.5548
 tccccaaccctctcacggttgttctgcgaaggcgtggggactgtgagcttgtccatggag       c.-601

 .         .         .         .         .         .                g.5608
 gcaggcaccttttttgatccagtcaaggaagaggatttgttgttttcgaaatcagagtga       c.-541

 .         .         .         .         .         .                g.5668
 aggaagcaccgaagcgaaacttaaggaatcctgccttcccggagccgcgggcgatgcgac       c.-481

 .         .         .         .         .         .                g.5728
 tagggctgccgggcgccgccgccgcccgtccggcttcgtccttcccggcagtcgggaact       c.-421

 .         .         .         .         .         .                g.5788
 agttctgaccctcgccccccgaccccggatcgaatccccgccctccgcaccctggatatg       c.-361

 .         .         .         .         .         .                g.5848
 ttttctcccagacctggatatttttttgatatcgtgaaactacgagggaaataatttggg       c.-301

 .         .         .         .         .         .                g.5908
 ggatttcttcttggctccctgctttccccacagacatgccttccgtttggagggccgcgg       c.-241

 .         .         .         .         .         .                g.5968
 caccccgtccgaggcgaaggaacccccccagccgcgagggagagaaatgaagggaatttc       c.-181

 .         .         .         .         .         .                g.6028
 tgcagcggcatgaaagctctgcagctaggtcctctcatcagccatttgtcctttcaaact       c.-121

 .         .         .         .         .         .                g.6088
 gtattgtgatacgggcaggatcagtccacgggagagaagacgagcctcccggctgtttct       c.-61

 .         .         .         .         .         .                g.6148
 ccgccggtctacttcccatatttcttttctttgccctcctgattcttggctggcccaggg       c.-1

          .         .         .         .         .         .       g.6208
 ATGACTTCCTCGCTGCAGCGGCCCTGGCGGGTGCCCTGGCTACCATGGACCATCCTGCTG       c.60
 M  T  S  S  L  Q  R  P  W  R  V  P  W  L  P  W  T  I  L  L         p.20

          .       | 02 .         .         .         .         .    g.93526
 GTCAGCACTGCGGCTG | CTTCGCAGAATCAAGAACGGCTATGTGCGTTTAAAGATCCGTAT    c.120
 V  S  T  A  A  A |   S  Q  N  Q  E  R  L  C  A  F  K  D  P  Y      p.40

          .         .         .         .         .         .       g.93586
 CAGCAAGACCTTGGGATAGGTGAGAGTAGAATCTCTCATGAAAATGGGACAATATTATGC       c.180
 Q  Q  D  L  G  I  G  E  S  R  I  S  H  E  N  G  T  I  L  C         p.60

          .         .         .         .         .         .       g.93646
 TCGAAAGGTAGCACCTGCTATGGCCTTTGGGAGAAATCAAAAGGGGACATAAATCTTGTA       c.240
 S  K  G  S  T  C  Y  G  L  W  E  K  S  K  G  D  I  N  L  V         p.80

         | 03.         .         .         .         .         .    g.96245
 AAACAAG | GATGTTGGTCTCACATTGGAGATCCCCAAGAGTGTCACTATGAAGAATGTGTA    c.300
 K  Q  G |   C  W  S  H  I  G  D  P  Q  E  C  H  Y  E  E  C  V      p.100

          .         .         .         .         .         .       g.96305
 GTAACTACCACTCCTCCCTCAATTCAGAATGGAACATACCGTTTCTGCTGTTGTAGCACA       c.360
 V  T  T  T  P  P  S  I  Q  N  G  T  Y  R  F  C  C  C  S  T         p.120

          .         .         .         .         .         | 04    g.142394
 GATTTATGTAATGTCAACTTTACTGAGAATTTTCCACCTCCTGACACAACACCACTCA | GT    c.420
 D  L  C  N  V  N  F  T  E  N  F  P  P  P  D  T  T  P  L  S |       p.140

          .         .         .         .         .         .       g.142454
 CCACCTCATTCATTTAACCGAGATGAGACAATAATCATTGCTTTGGCATCAGTCTCTGTA       c.480
 P  P  H  S  F  N  R  D  E  T  I  I  I  A  L  A  S  V  S  V         p.160

          .         .         .         .          | 05        .    g.143572
 TTAGCTGTTTTGATAGTTGCCTTATGCTTTGGATACAGAATGTTGACAG | GAGACCGTAAA    c.540
 L  A  V  L  I  V  A  L  C  F  G  Y  R  M  L  T  G |   D  R  K      p.180

          .         .         .         .         .         .       g.143632
 CAAGGTCTTCACAGTATGAACATGATGGAGGCAGCAGCATCCGAACCCTCTCTTGATCTA       c.600
 Q  G  L  H  S  M  N  M  M  E  A  A  A  S  E  P  S  L  D  L         p.200

          .         .  | 06      .         .         .         .    g.147534
 GATAATCTGAAACTGTTGGAG | CTGATTGGCCGAGGTCGATATGGAGCAGTATATAAAGGC    c.660
 D  N  L  K  L  L  E   | L  I  G  R  G  R  Y  G  A  V  Y  K  G      p.220

          .         .         .         .         .         .       g.147594
 TCCTTGGATGAGCGTCCAGTTGCTGTAAAAGTGTTTTCCTTTGCAAACCGTCAGAATTTT       c.720
 S  L  D  E  R  P  V  A  V  K  V  F  S  F  A  N  R  Q  N  F         p.240

          .         .         .         .         .         .       g.147654
 ATCAACGAAAAGAACATTTACAGAGTGCCTTTGATGGAACATGACAACATTGCCCGCTTT       c.780
 I  N  E  K  N  I  Y  R  V  P  L  M  E  H  D  N  I  A  R  F         p.260

          .         .         .         .         .         .       g.147714
 ATAGTTGGAGATGAGAGAGTCACTGCAGATGGACGCATGGAATATTTGCTTGTGATGGAG       c.840
 I  V  G  D  E  R  V  T  A  D  G  R  M  E  Y  L  L  V  M  E         p.280

          .   | 07     .         .         .         .         .    g.148808
 TACTATCCCAAT | GGATCTTTATGCAAGTATTTAAGTCTCCACACAAGTGACTGGGTAAGC    c.900
 Y  Y  P  N   | G  S  L  C  K  Y  L  S  L  H  T  S  D  W  V  S      p.300

          .         .         .         .         .         .       g.148868
 TCTTGCCGTCTTGCTCATTCTGTTACTAGAGGACTGGCTTATCTTCACACAGAATTACCA       c.960
 S  C  R  L  A  H  S  V  T  R  G  L  A  Y  L  H  T  E  L  P         p.320

         | 08.         .         .         .         .         .    g.159520
 CGAGGAG | ATCATTATAAACCTGCAATTTCCCATCGAGATTTAAACAGCAGAAATGTCCTA    c.1020
 R  G  D |   H  Y  K  P  A  I  S  H  R  D  L  N  S  R  N  V  L      p.340

          .         .         .         .         .         .       g.159580
 GTGAAAAATGATGGAACCTGTGTTATTAGTGACTTTGGACTGTCCATGAGGCTGACTGGA       c.1080
 V  K  N  D  G  T  C  V  I  S  D  F  G  L  S  M  R  L  T  G         p.360

          .         .         .         .         | 09         .    g.161270
 AATAGACTGGTGCGCCCAGGGGAGGAAGATAATGCAGCCATAAGCGAG | GTTGGCACTATC    c.1140
 N  R  L  V  R  P  G  E  E  D  N  A  A  I  S  E   | V  G  T  I      p.380

          .         .         .         .         .         .       g.161330
 AGATATATGGCACCAGAAGTGCTAGAAGGAGCTGTGAACTTGAGGGACTGTGAATCAGCT       c.1200
 R  Y  M  A  P  E  V  L  E  G  A  V  N  L  R  D  C  E  S  A         p.400

          .         .         .         .         .         .       g.161390
 TTGAAACAAGTAGACATGTATGCTCTTGGACTAATCTATTGGGAGATATTTATGAGATGT       c.1260
 L  K  Q  V  D  M  Y  A  L  G  L  I  Y  W  E  I  F  M  R  C         p.420

          .       | 10 .         .         .         .         .    g.171028
 ACAGACCTCTTCCCAG | GGGAATCCGTACCAGAGTACCAGATGGCTTTTCAGACAGAGGTT    c.1320
 T  D  L  F  P  G |   E  S  V  P  E  Y  Q  M  A  F  Q  T  E  V      p.440

          .         .         .         .         .         .       g.171088
 GGAAACCATCCCACTTTTGAGGATATGCAGGTTCTCGTGTCTAGGGAAAAACAGAGACCC       c.1380
 G  N  H  P  T  F  E  D  M  Q  V  L  V  S  R  E  K  Q  R  P         p.460

          .         .         .    | 11    .         .         .    g.181416
 AAGTTCCCAGAAGCCTGGAAAGAAAATAGCCTG | GCAGTGAGGTCACTCAAGGAGACAATC    c.1440
 K  F  P  E  A  W  K  E  N  S  L   | A  V  R  S  L  K  E  T  I      p.480

          .         .         .         .         .         .       g.181476
 GAAGACTGTTGGGACCAGGATGCAGAGGCTCGGCTTACTGCACAGTGTGCTGAGGAAAGG       c.1500
 E  D  C  W  D  Q  D  A  E  A  R  L  T  A  Q  C  A  E  E  R         p.500

          .         .         .         .         .         .       g.181536
 ATGGCTGAACTTATGATGATTTGGGAAAGAAACAAATCTGTGAGCCCAACAGTCAATCCA       c.1560
 M  A  E  L  M  M  I  W  E  R  N  K  S  V  S  P  T  V  N  P         p.520

          .         .       | 12 .         .         .         .    g.183959
 ATGTCTACTGCTATGCAGAATGAACG | CAACCTGTCACATAATAGGCGTGTGCCAAAAATT    c.1620
 M  S  T  A  M  Q  N  E  R  |  N  L  S  H  N  R  R  V  P  K  I      p.540

          .         .         .         .         .         .       g.184019
 GGTCCTTATCCAGATTATTCTTCCTCCTCATACATTGAAGACTCTATCCATCATACTGAC       c.1680
 G  P  Y  P  D  Y  S  S  S  S  Y  I  E  D  S  I  H  H  T  D         p.560

          .         .         .         .         .         .       g.184079
 AGCATCGTGAAGAATATTTCCTCTGAGCATTCTATGTCCAGCACACCTTTGACTATAGGG       c.1740
 S  I  V  K  N  I  S  S  E  H  S  M  S  S  T  P  L  T  I  G         p.580

          .         .         .         .         .         .       g.184139
 GAAAAAAACCGAAATTCAATTAACTATGAACGACAGCAAGCACAAGCTCGAATCCCCAGC       c.1800
 E  K  N  R  N  S  I  N  Y  E  R  Q  Q  A  Q  A  R  I  P  S         p.600

          .         .         .         .         .         .       g.184199
 CCTGAAACAAGTGTCACCAGCCTCTCCACCAACACAACAACCACAAACACCACAGGACTC       c.1860
 P  E  T  S  V  T  S  L  S  T  N  T  T  T  T  N  T  T  G  L         p.620

          .         .         .         .         .         .       g.184259
 ACGCCAAGTACTGGCATGACTACTATATCTGAGATGCCATACCCAGATGAAACAAATCTG       c.1920
 T  P  S  T  G  M  T  T  I  S  E  M  P  Y  P  D  E  T  N  L         p.640

          .         .         .         .         .         .       g.184319
 CATACCACAAATGTTGCACAGTCAATTGGGCCAACCCCTGTCTGCTTACAGCTGACAGAA       c.1980
 H  T  T  N  V  A  Q  S  I  G  P  T  P  V  C  L  Q  L  T  E         p.660

          .         .         .         .         .         .       g.184379
 GAAGACTTGGAAACCAACAAGCTAGACCCAAAAGAAGTTGATAAGAACCTCAAGGAAAGC       c.2040
 E  D  L  E  T  N  K  L  D  P  K  E  V  D  K  N  L  K  E  S         p.680

          .         .         .         .         .         .       g.184439
 TCTGATGAGAATCTCATGGAGCACTCTCTTAAACAGTTCAGTGGCCCAGACCCACTGAGC       c.2100
 S  D  E  N  L  M  E  H  S  L  K  Q  F  S  G  P  D  P  L  S         p.700

          .         .         .         .         .         .       g.184499
 AGTACTAGTTCTAGCTTGCTTTACCCACTCATAAAACTTGCAGTAGAAGCAACTGGACAG       c.2160
 S  T  S  S  S  L  L  Y  P  L  I  K  L  A  V  E  A  T  G  Q         p.720

          .         .         .         .         .         .       g.184559
 CAGGACTTCACACAGACTGCAAATGGCCAAGCATGTTTGATTCCTGATGTTCTGCCTACT       c.2220
 Q  D  F  T  Q  T  A  N  G  Q  A  C  L  I  P  D  V  L  P  T         p.740

          .         .         .         .         .         .       g.184619
 CAGATCTATCCTCTCCCCAAGCAGCAGAACCTTCCCAAGAGACCTACTAGTTTGCCTTTG       c.2280
 Q  I  Y  P  L  P  K  Q  Q  N  L  P  K  R  P  T  S  L  P  L         p.760

          .         .         .         .         .         .       g.184679
 AACACCAAAAATTCAACAAAAGAGCCCCGGCTAAAATTTGGCAGCAAGCACAAATCAAAC       c.2340
 N  T  K  N  S  T  K  E  P  R  L  K  F  G  S  K  H  K  S  N         p.780

          .         .         .         .         .         .       g.184739
 TTGAAACAAGTCGAAACTGGAGTTGCCAAGATGAATACAATCAATGCAGCAGAACCTCAT       c.2400
 L  K  Q  V  E  T  G  V  A  K  M  N  T  I  N  A  A  E  P  H         p.800

          .         .         .         .         .         .       g.184799
 GTGGTGACAGTCACCATGAATGGTGTGGCAGGTAGAAACCACAGTGTTAACTCCCATGCT       c.2460
 V  V  T  V  T  M  N  G  V  A  G  R  N  H  S  V  N  S  H  A         p.820

          .         .         .         .         .         .       g.184859
 GCCACAACCCAATATGCCAATGGGACAGTACTATCTGGCCAAACAACCAACATAGTGACA       c.2520
 A  T  T  Q  Y  A  N  G  T  V  L  S  G  Q  T  T  N  I  V  T         p.840

          .         .         .         .         .         .       g.184919
 CATAGGGCCCAAGAAATGTTGCAGAATCAGTTTATTGGTGAGGACACCCGGCTGAATATT       c.2580
 H  R  A  Q  E  M  L  Q  N  Q  F  I  G  E  D  T  R  L  N  I         p.860

          .         .         .         .         .         .       g.184979
 AATTCCAGTCCTGATGAGCATGAGCCTTTACTGAGACGAGAGCAACAAGCTGGCCATGAT       c.2640
 N  S  S  P  D  E  H  E  P  L  L  R  R  E  Q  Q  A  G  H  D         p.880

          .         .         .         .         .         .       g.185039
 GAAGGTGTTCTGGATCGTCTTGTGGACAGGAGGGAACGGCCACTAGAAGGTGGCCGAACT       c.2700
 E  G  V  L  D  R  L  V  D  R  R  E  R  P  L  E  G  G  R  T         p.900

          .         .         .         .         .         .       g.185099
 AATTCCAATAACAACAACAGCAATCCATGTTCAGAACAAGATGTTCTTGCACAGGGTGTT       c.2760
 N  S  N  N  N  N  S  N  P  C  S  E  Q  D  V  L  A  Q  G  V         p.920

          .         .         .         .         .         .       g.185159
 CCAAGCACAGCAGCAGATCCTGGGCCATCAAAGCCCAGAAGAGCACAGAGGCCTAATTCT       c.2820
 P  S  T  A  A  D  P  G  P  S  K  P  R  R  A  Q  R  P  N  S         p.940

          .         .         .         .       | 13 .         .    g.188383
 CTGGATCTTTCAGCCACAAATGTCCTGGATGGCAGCAGTATACAGA | TAGGTGAGTCAACA    c.2880
 L  D  L  S  A  T  N  V  L  D  G  S  S  I  Q  I |   G  E  S  T      p.960

          .         .         .         .         .         .       g.188443
 CAAGATGGCAAATCAGGATCAGGTGAAAAGATCAAGAAACGTGTGAAAACTCCCTATTCT       c.2940
 Q  D  G  K  S  G  S  G  E  K  I  K  K  R  V  K  T  P  Y  S         p.980

          .         .         .         .         .         .       g.188503
 CTTAAGCGGTGGCGCCCCTCCACCTGGGTCATCTCCACTGAATCGCTGGACTGTGAAGTC       c.3000
 L  K  R  W  R  P  S  T  W  V  I  S  T  E  S  L  D  C  E  V         p.1000

          .         .         .         .         .         .       g.188563
 AACAATAATGGCAGTAACAGGGCAGTTCATTCCAAATCCAGCACTGCTGTTTACCTTGCA       c.3060
 N  N  N  G  S  N  R  A  V  H  S  K  S  S  T  A  V  Y  L  A         p.1020

          .         .         .         .         .                 g.188620
 GAAGGAGGCACTGCTACAACCATGGTGTCTAAAGATATAGGAATGAACTGTCTGTGA          c.3117
 E  G  G  T  A  T  T  M  V  S  K  D  I  G  M  N  C  L  X            p.1038

          .         .         .         .         .         .       g.188680
 aatgttttcaagcctatggagtgaaattattttttgcatcatttaaacatgcagaagatg       c.*60

          .         .         .         .         .         .       g.188740
 tttaaaaataaaaaaaaaactgctttatcctcctgtcagcaccccctcccacccctgcaa       c.*120

          .         .         .         .         .         .       g.188800
 caaagacttgctttaaatagatttcagctatgcagaaaaatttagcttatgcttccatat       c.*180

          .         .         .         .         .         .       g.188860
 ttttaaattttgttttttaagttttgcacttttgtttagtctcgctaaagttatatttgt       c.*240

          .         .         .         .         .         .       g.188920
 ctgttatgaccacagagttatatgtgtgtgtatcaaaagtggtctcaaaatattttttta       c.*300

          .         .         .         .         .         .       g.188980
 agaaaaaaagcaaaaacaatgtattgctgataatcagtttggaccagtttcttaaggtca       c.*360

          .         .         .         .         .         .       g.189040
 ttaaaacagaagcaaattaagacaggtttgactgcagtggtgtctggtatccatgtttta       c.*420

          .         .         .         .         .         .       g.189100
 tttctgggcacaagctagtttttatgttgatacgttcctgaacatattatcttgttggac       c.*480

          .         .         .         .         .         .       g.189160
 atcttttctcttgtgttttgtttgaatgtgcaatagtttataggccacaaataagctttc       c.*540

          .         .         .         .         .         .       g.189220
 ttgtaagctctcttcctaacagggcacatattcttccataatataaacacttttctgccc       c.*600

          .         .         .         .         .         .       g.189280
 catctcccatacttttgaaggtcagttctatgacagtgaattttgcacaggagaagcagc       c.*660

          .         .         .         .         .         .       g.189340
 tacctgatttcttactttctctctccttatcatggagaatacagaaacattgtctgaaag       c.*720

          .         .         .         .         .         .       g.189400
 ggctctaaagaaggaactaccaaaacctgacttgaaatgccatttcttttaaccttccaa       c.*780

          .         .         .         .         .         .       g.189460
 atcctaaatgtttccttcaaggcatcttaataaacttatttgcttctggttttgggagtt       c.*840

          .         .         .         .         .         .       g.189520
 cataagagagaatagaacaaaatacaggacatcaaatattagccatttcccattttattt       c.*900

          .         .         .         .         .         .       g.189580
 tatttttctatgtaggttcatgttccatgttcatttatttaagaaatacatttttattgg       c.*960

          .         .         .         .         .         .       g.189640
 taagcttatagagctacacttatggaatttttaagtaggtaaataaatggttaagacaaa       c.*1020

          .         .         .         .         .         .       g.189700
 atagtgttatagccttcattctctgaataggccatctttgactcataaaattacccttac       c.*1080

          .         .         .         .         .         .       g.189760
 tgtttattataacttcagaagtaatttatagttctgaacctatagtatcttttaccctgt       c.*1140

          .         .         .         .         .         .       g.189820
 tcccaagcaaagactggtgactttatctgaaaatgattcctcttcccatgacctaaaaca       c.*1200

          .         .         .         .         .         .       g.189880
 ctgtgaggaaaaatcattcaagtggcatgccaagtccctatgaaggaagggctgctatca       c.*1260

          .         .         .         .         .         .       g.189940
 aacctaccttttttgagcaaactgagactaaacttctctcttttcaaaattgtgttatct       c.*1320

          .         .         .         .         .         .       g.190000
 tccttaatcctattttcataatttttccttttgccagtttttcacattatctttgatatg       c.*1380

          .         .         .         .         .         .       g.190060
 tgagcaacatttattatttacattagagtataccttttagtaataaaatgacttgaaatc       c.*1440

          .         .         .         .         .         .       g.190120
 atattatttttaaaagccctttgcttctttcattacttataatctcctctaaaacaacct       c.*1500

          .         .         .         .         .         .       g.190180
 ctgcatgttttttttaaataaagcactttctgtcaaataatggacttttttctaaacaga       c.*1560

          .         .         .         .         .         .       g.190240
 aattattttctattaatttgcaaactgatgatttcacttttttttacttttttttcgatt       c.*1620

          .         .         .         .         .         .       g.190300
 atcagagtacttagtaaatgttatatagtttagttctaagatagttccagggattaaaag       c.*1680

          .         .         .         .         .         .       g.190360
 gttaagaggaaaacacaaatcaccaaatttctgatttatgtttttatctcctgaacaata       c.*1740

          .         .         .         .         .         .       g.190420
 ttttctcactcatattcctctatcttatcacttagctaaagacagcctaaatttcccaat       c.*1800

          .         .         .         .         .         .       g.190480
 tttctgtccaaaatatttgtgatttacttgtatataagccttctcatttgccatgtgctg       c.*1860

          .         .         .         .         .         .       g.190540
 tgatcttacaagttagatgttactatacctaccatttattcagctggattgctgaacaca       c.*1920

          .         .         .         .         .         .       g.190600
 gttctggattcatagaattaagaatatcttgttagtgcccaggatttccacgttttgtgt       c.*1980

          .         .         .         .         .         .       g.190660
 tttattggcccttttctttattcagccccttaatctattttcagtcttctggcacgtaat       c.*2040

          .         .         .         .         .         .       g.190720
 ttttttcacagttattattcttctattaacaaattatttttatctttcctagtacatttt       c.*2100

          .         .         .         .         .         .       g.190780
 cacttagttctcttgcccttaaatatctttcacatgcattttaggatattcttttcaaat       c.*2160

          .         .         .         .         .         .       g.190840
 atttgtaggacaactttgaatcaaaataaattatgttccttctccaatttgaagcattga       c.*2220

          .         .         .         .         .         .       g.190900
 ggataaatgaccatttgaggtctaactgatcttttcctgccagaagagttatcttacgtt       c.*2280

          .         .         .         .         .         .       g.190960
 ctgctatatttgtatttgggccagttgattgtaggttgtccaacattttttaatattggg       c.*2340

          .         .         .         .         .         .       g.191020
 aaaattatgataaaatgctttaaaaattaatatgccagattaaaataactgaatagttta       c.*2400

          .         .         .         .         .         .       g.191080
 ctatttcattcaagcatgtttaaaacaaataatttcctttcaccagtttttcttagtaaa       c.*2460

          .         .         .         .         .         .       g.191140
 ctcctgaaaaagtaggaaaggtggaaagtatatatcatttttataaattttaaattgtac       c.*2520

          .         .         .         .         .         .       g.191200
 atcagacttttaaaatctgtaatatacaagcaagcaaaattattttaaatgacttaattg       c.*2580

          .         .         .         .         .         .       g.191260
 tatgctaatactcatctgataataaatgcttcttaaagttgacatttaactgctatcaca       c.*2640

          .         .         .         .         .         .       g.191320
 aagttttatatgtagaaaagtggggtccttttgaataaaagatcattcaactaaaaatat       c.*2700

          .         .         .         .         .         .       g.191380
 taaaatttatttcactggatggtaatgtaaccttaaaagcatcataataggtaaagtcta       c.*2760

          .         .         .         .         .         .       g.191440
 atattagttcccttaacaaaatcctaactgtataccagaattaggtcactgaaagaactt       c.*2820

          .         .         .         .         .         .       g.191500
 gatttgaattacgtttagacaaaaatgatttaattgtaaattcttaaaactttctaaatg       c.*2880

          .         .         .         .         .         .       g.191560
 cataattggcaaaaaaaaaaacccactgttaccagtgtaggaagttacaagaaggcacat       c.*2940

          .         .         .         .         .         .       g.191620
 actgaatgctgaagtatacatatgctatttctcttaaacctcagagcaaccatatgagca       c.*3000

          .         .         .         .         .         .       g.191680
 ttgtaattaatattcccattttacagatgaggaaactgaagctaagagaagctaagtaat       c.*3060

          .         .         .         .         .         .       g.191740
 atgcccaaggtccacatctagtaacagacaaagctgggatttcagtctatgtctgcctct       c.*3120

          .         .         .         .         .         .       g.191800
 ctccacatctctttcatccataccacactgcctacatgccatatgacaggatgtgtaatg       c.*3180

          .         .         .         .         .         .       g.191860
 ggctaacgtttatttaaaaagttcaggccaggtgcagtggcttatgcctataatccccgc       c.*3240

          .         .         .         .         .         .       g.191920
 actttgggaggccgagccgggtggatcatgaggtcagacgttcaacaccagcctggccaa       c.*3300

          .         .         .         .         .         .       g.191980
 gatggtgaaaccccgtctctattaaaaatattttttaaaaattaactgagcgtggtggtg       c.*3360

          .         .         .         .         .         .       g.192040
 ggcgcctgtagtcccagctactcaggaggctaaggcaggagaatctcttgaacccgagag       c.*3420

          .         .         .         .         .         .       g.192100
 gtggaggttgcagtgagctgagatcgcgccactgcactgcagcctaggcgacagagcaag       c.*3480

          .         .         .         .         .         .       g.192160
 actgcctcaaaaaaaaaacataaaaattcagtcactatactctggcacaattttcatttg       c.*3540

          .         .         .         .         .         .       g.192220
 tatatgagccaaaccacataccttaatgatttgggaagttaggcaaatatgagatatgta       c.*3600

          .         .         .         .         .         .       g.192280
 gacatatctatgctgattgttgcttgagaaataattactaattctagacaaaactcaatc       c.*3660

          .         .         .         .         .         .       g.192340
 ctgtatcttccatcatgaatcttaaaatcatttcacttcactcctaacatttcttacatt       c.*3720

          .         .         .         .         .         .       g.192400
 gcagaactaatggtaaagtaaattttacggaaaaagttaagatagctttgggaacagaga       c.*3780

          .         .         .         .         .         .       g.192460
 cctttccctaaattgattccatagcagatttgggggaattaacaaagaatttcagtctca       c.*3840

          .         .         .         .         .         .       g.192520
 tcaatcctttgaatccatcttcaaaacttctgcttttaataactttagaaaatttactaa       c.*3900

          .         .         .         .         .         .       g.192580
 tctatagaactaattgagtaggatataggaaggatacaaggatataatgtcctttttata       c.*3960

          .         .         .         .         .         .       g.192640
 aaagtttagtatagcttctttacatgtatccacttgttccagaaaatgtgcattggttct       c.*4020

          .         .         .         .         .         .       g.192700
 gaatgtgaaaatatttaaagagagaaaggaacactcaagtaagtgtgggcttcagtggga       c.*4080

          .         .         .         .         .         .       g.192760
 attatcacaaaacattggcaagtatttttatttaaattattttcaaatttgacttctaca       c.*4140

          .         .         .         .         .         .       g.192820
 gccaagtggaattggtaggctgtagctgttacactgaaatttctagtctttgtaagtgcc       c.*4200

          .         .         .         .         .         .       g.192880
 tcctgaaagtcatttaaaatggaaaaatatttcaatgagcttttccttttttcatattta       c.*4260

          .         .         .         .         .         .       g.192940
 tggacatgaatattttattggagatcattaactcctagaatttgagattatatttccata       c.*4320

          .         .         .         .         .         .       g.193000
 caacattttataaagttatgttgaacttactacctgttatgtgcaggttattatgtaact       c.*4380

          .         .         .         .         .         .       g.193060
 attcacagattgcttcatatattgctttatcttcccatctaacttcttaaagttaaaatc       c.*4440

          .         .         .         .         .         .       g.193120
 cggacacacatgttgattatctagaccagtcattctggaaattgtaacactcccacataa       c.*4500

          .         .         .         .         .         .       g.193180
 accccaggagactttttcagaatgcaatgtttctaaatgtactgttactggcagtttact       c.*4560

          .         .         .         .         .         .       g.193240
 ctccagcatataaggttgcattttaacttttagattatgaactgtgcaaactttacccaa       c.*4620

          .         .         .         .         .         .       g.193300
 aactatcttgcatgattccctcctaaatatattccttgattaagtaaatctggcaaatca       c.*4680

          .         .         .         .         .         .       g.193360
 ctgtttgagctagttacataaaatttgttatcaagagaaggcttttctacaagtttccag       c.*4740

          .         .         .         .         .         .       g.193420
 attaacataaagaaaagagggaatcacagggcatttaagtgcaccttcccattactttcc       c.*4800

          .         .         .         .         .         .       g.193480
 ttaaatcacctcatagttaggctgggcgcggtggctcacgcctgtaatcccagcactttg       c.*4860

          .         .         .         .         .         .       g.193540
 ggaggccgagacggtggatcacgaggtcaggggactgagatcatcctggctaacacgatg       c.*4920

          .         .         .         .         .         .       g.193600
 aaacctcatctctactaaaaatacaaataattagccaggcatggtggcacgcgcctgtag       c.*4980

          .         .         .         .         .         .       g.193660
 tcccagctactcgggaggcagagacaggagaatcgtttgcacccgggaggcggaggttgt       c.*5040

          .         .         .         .         .         .       g.193720
 tgcagtgagccgagatcgcgccaatgcactccagcctgggctacagagtgagactccatc       c.*5100

          .         .         .         .         .         .       g.193780
 tcaaaaaaaaacaaaaaaaatcacctcatagtttatgtctgacttactccaaacctcagt       c.*5160

          .         .         .         .         .         .       g.193840
 tatctgatttgtagtctgtgtcaggaaagttttcttcatatctattctgtctccctcctc       c.*5220

          .         .         .         .         .         .       g.193900
 tttgattttaaatttttttcttttacccagtaggacaaaaaagagcagttggtcatcatc       c.*5280

          .         .         .         .         .         .       g.193960
 cccaatattcttagtcttcagtatgcttcaggcctctcaatgaacacttaagtctcaatt       c.*5340

          .         .         .         .         .         .       g.194020
 cttcagacaaaattgcttaagctcttctcctcagtcctattttaatgactttatatttaa       c.*5400

          .         .         .         .         .         .       g.194080
 gaatatagaattatattttcttttatattcaaattcattactccagttaagtaatagttt       c.*5460

          .         .         .         .         .         .       g.194140
 gatagtttgatagaatcgagagttaagatgtttctatttgaaagtggattcaaccatcag       c.*5520

          .         .         .         .         .         .       g.194200
 accaccagcaaatcggcacttaatttttgtgttatctaacattttctattgtggaatttt       c.*5580

          .         .         .         .         .         .       g.194260
 atgattttatattctcattagttataactaaaaagccatgcacacagaattgtatatcat       c.*5640

          .         .         .         .         .         .       g.194320
 tttgccattaaaattttttaacatattgcagcaagcttagttttatgattgagccacaac       c.*5700

          .         .         .         .         .         .       g.194380
 cttttacatattttttgtatgaaatattaaacactaaatgcaagattaactttcaaaagc       c.*5760

          .         .         .         .         .         .       g.194440
 aaaccctacattaatcaggtattatctatggacatttttgtagaccacttttgaaatact       c.*5820

          .         .         .         .         .         .       g.194500
 tattattttgcaacatagactggactatacaactttcatttaacttttaggtgactgatt       c.*5880

          .         .         .         .         .         .       g.194560
 taagttgagtgtgcatatagagaaaaacctagaaatttatctcatggcagatacatttga       c.*5940

          .         .         .         .         .         .       g.194620
 aagtacttcagaagaatttatgctgtatattaaaactaggctcaaaataaatctatcgta       c.*6000

          .         .         .         .         .         .       g.194680
 tctttaaaagtccaattctgttattactgtgatgtttgtagtgttactattaaacattgt       c.*6060

          .         .         .         .         .         .       g.194740
 gaacatacacatttttaaaacaacttgaaacccattttaaaatctgggtaagagagaagg       c.*6120

          .         .         .         .         .         .       g.194800
 aatcttcagaacaaaatcacatcattagggtgtccagtttatgattgaatttttaagcaa       c.*6180

          .         .         .         .         .         .       g.194860
 attactgtatttgaaactacaacttgatttggttttcagttttaaaaggcaacatgtggg       c.*6240

          .         .         .         .         .         .       g.194920
 ttttatccattttatttatacctttagatttcagaaacatcttcatgttttagatgcatt       c.*6300

          .         .         .         .         .         .       g.194980
 ctacagacatcatgttacttaaaaactcagggcccctttcatccctttgtacactgaaaa       c.*6360

          .         .         .         .         .         .       g.195040
 agttcaattgttagcaagtaagcaattagatccagttgaatatttaaagtgtttgttgca       c.*6420

          .         .         .         .         .         .       g.195100
 cagttcatttaatgtttcatcttatttgactttttcacatagatataatatcagatttca       c.*6480

          .         .         .         .         .         .       g.195160
 ttaattataaaaagttgcccagttctgtaattactgaacagagggaatgactcaactaat       c.*6540

          .         .         .         .         .         .       g.195220
 tggctacatgttgcaacaaatttaggcctttagagttgaagcactgacttaaaacgactt       c.*6600

          .         .         .         .         .         .       g.195280
 acatttctgttctttggtcaaatgaccatacatgatatgggacaaattgtttcattttgt       c.*6660

          .         .         .         .         .         .       g.195340
 ttgttttttaataagggaacttggtaaagtagttcctgtcagataggattttctcaagag       c.*6720

          .         .         .         .         .         .       g.195400
 acaatttaacgttataaagccttctaaaagtgaactaaatattttataactttagtaata       c.*6780

          .         .         .         .         .         .       g.195460
 gcttggatggttttgagaaaataacctgtatttatcacattgtcaaacagaatttttctt       c.*6840

          .         .         .         .         .         .       g.195520
 tgaatcagacaagttcaagctctaaattgatgtgctatatacttaaaatcctaggaagtt       c.*6900

          .         .         .         .         .         .       g.195580
 atctgtaaccagtctcttgtctcaggctcttcaccttgttaccaatcctcgtaagtatgt       c.*6960

          .         .         .         .         .         .       g.195640
 aaaggaaacatatttttaaagaagcttaacagtaagaaaaaattactaaaagatgcaatt       c.*7020

          .         .         .         .         .         .       g.195700
 caaagataggtcccagtttaacactgaattgcttgacttctgtggcttttctttttctgg       c.*7080

          .         .         .         .         .         .       g.195760
 ccacatttatttatttaagcaatttttgtatgccttgttatttcatttccatagagatta       c.*7140

          .         .         .         .         .         .       g.195820
 tattgtatcagtgtttatgtaagctggaatcatcctcagttttttgctgataatttttca       c.*7200

          .         .         .         .         .         .       g.195880
 aataaagatacatggataattgtaaaatacactaactcttagggtgttgtagtagctgaa       c.*7260

          .         .         .         .         .         .       g.195940
 acatggagatgcgtagctgtcatgctttttctgaatggacaggagaaacataagctacgg       c.*7320

          .         .         .         .         .         .       g.196000
 agtattcacttctgaggatgcttttccggaaaaagaaaggctagaaaatactcgcacttc       c.*7380

          .         .         .         .         .         .       g.196060
 ctcagaaccctctttcttgttaacgggtatcttttgttggtgtgttttgctcttacatta       c.*7440

          .         .         .         .         .         .       g.196120
 cagatagactatcatatatgactttatgaataatttcagttattttgcttttgtataagc       c.*7500

          .         .         .         .         .         .       g.196180
 tgtctgaagccttgctatgctgtataagttgtgtttgatggatcagtgtgagtataaaat       c.*7560

          .         .         .         .         .         .       g.196240
 aaagcaaatcacttttcttttgtattatctatggatgccactatgaaagctgacattaag       c.*7620

          .         .         .         .         .         .       g.196300
 ccactaaagagttttctatgaataagtgtaagtaaatgctttgatatatataaacctaaa       c.*7680

          .         .         .         .         .         .       g.196360
 taaaaagattgtattgatacagagacattggagaaggagattttaaggcagttctttagg       c.*7740

          .         .         .         .         .         .       g.196420
 tttaaaaaggcttgctgtaaaatggtgcgttattccgtttattaaagatcatattaatga       c.*7800

                                                                    g.196425
 caata                                                              c.*7805

 (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 Bone morphogenetic protein receptor, type II (serine/threonine kinase) 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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