Canonical Allele Identifier: CA763418020

Gene: BMPR2

Linked Data

• dbSNP Id: rs1248126625
• gnomAD v3: 2-202465004-A-G
• gnomAD v4: 2-202465004-A-G
• MyVariant Identifiers: chr2:g.203329727A>G (hg19) ; chr2:g.202465004A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202465004A>G , CM000664.2:g.202465004A>G	GRCh38
NC_000002.11:g.203329727A>G , CM000664.1:g.203329727A>G	GRCh37
NC_000002.10:g.203037972A>G	NCBI36
NG_009363.1:g.93678A>G , LRG_712:g.93678A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.247+25A>G MANE Select	ENSP00000363708.4:n.247+25A>G
ENST00000638587.1:c.176+21A>G	ENSP00000491062.1:n.176+21A>G
ENST00000374574.2:c.247+25A>G	ENSP00000363702.2:n.247+25A>G
ENST00000374580.8:c.247+25A>G	ENSP00000363708.4:n.247+25A>G
ENST00000479069.1:n.154+25A>G
NM_001204.6:c.247+25A>G , LRG_712t1:c.247+25A>G	NP_001195.2:n.247+25A>G
XM_011511687.1:c.247+25A>G	XP_011509989.1:n.247+25A>G
XM_011511688.1:c.247+25A>G	XP_011509990.1:n.247+25A>G
NM_001204.7:c.247+25A>G MANE Select	NP_001195.2:n.247+25A>G