Canonical Allele Identifier: CA278089
Gene: BMPR2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 8806
dbSNP Id: rs137852749

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202552774G>A , CM000664.2:g.202552774G>A GRCh38
NC_000002.11:g.203417497G>A , CM000664.1:g.203417497G>A GRCh37
NC_000002.10:g.203125742G>A NCBI36
NG_009363.1:g.181448G>A , LRG_712:g.181448G>A

Transcript Alleles

HGVS Amino-acid change
NM_001204.6:c.1472G>A , LRG_712t1:c.1472G>A NP_001195.2:p.Arg491Gln
XM_011511687.1:c.1472G>A XP_011509989.1:p.Arg491Gln
XM_011511688.1:c.1472G>A XP_011509990.1:p.Arg491Gln
ENST00000374574.2:c.1472G>A ENSP00000363702.2:p.Arg491Gln
ENST00000374580.8:c.1472G>A ENSP00000363708.4:p.Arg491Gln