Canonical Allele Identifier: CA278089

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 8806
• ClinVar RCV Id: RCV000009351 ; RCV001003726 ; RCV001810840 ; RCV001823869 ; RCV001851761 ; RCV003313915
• dbSNP Id: rs137852749
• gnomAD v4: 2-202552774-G-A
• COSMIC: COSM2908019
• MyVariant Identifiers: chr2:g.203417497G>A (hg19) ; chr2:g.202552774G>A (hg38)
• ERepo: CA278089/MONDO:0015924/125
• PubMed: PMID:3291115 ; PMID:10903931 ; PMID:11115378 ; PMID:15699261 ; PMID:15965979 ; PMID:16361068 ; PMID:16429395 ; PMID:18356561 ; PMID:18503968 ; PMID:19555857 ; PMID:20096498 ; PMID:20534176 ; PMID:21737554 ; PMID:21801371 ; PMID:23298310 ; PMID:26387786

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
ENST00000374580.10:c.1472G>A MANE Select	ENSP00000363708.4:p.Arg491Gln
ENST00000638587.1:c.1403G>A	ENSP00000491062.1:p.Arg468Gln
ENST00000374574.2:c.1472G>A	ENSP00000363702.2:p.Arg491Gln
ENST00000374580.8:c.1472G>A	ENSP00000363708.4:p.Arg491Gln
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
NM_001204.7:c.1472G>A MANE Select	NP_001195.2:p.Arg491Gln