Canonical Allele Identifier: CA1321474543
Gene: BMPR2 HGNC NCBI

Linked Data

dbSNP Id: rs1690169786
gnomAD v3: 2-202377264-A-C
gnomAD v4: 2-202377264-A-C
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377264A>C , CM000664.2:g.202377264A>C GRCh38
NC_000002.11:g.203241987A>C , CM000664.1:g.203241987A>C GRCh37
NC_000002.10:g.202950232A>C NCBI36
NG_009363.1:g.5938A>C , LRG_712:g.5938A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.-211A>C MANE Select ENSP00000363708.4:n.-211A>C
ENST00000374580.8:c.-211A>C ENSP00000363708.4:n.-211A>C
NM_001204.6:c.-211A>C , LRG_712t1:c.-211A>C NP_001195.2:n.-211A>C
XM_011511687.1:c.-211A>C XP_011509989.1:n.-211A>C
XM_011511688.1:c.-211A>C XP_011509990.1:n.-211A>C
NM_001204.7:c.-211A>C MANE Select NP_001195.2:n.-211A>C
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