Canonical Allele Identifier: CA1041292765

Gene: BMPR2

Linked Data

• dbSNP Id: rs1692292685
• gnomAD v3: 2-202464998-A-G
• gnomAD v4: 2-202464998-A-G

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202464998A>G , CM000664.2:g.202464998A>G	GRCh38
NC_000002.11:g.203329721A>G , CM000664.1:g.203329721A>G	GRCh37
NC_000002.10:g.203037966A>G	NCBI36
NG_009363.1:g.93672A>G , LRG_712:g.93672A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.247+19A>G MANE Select	ENSP00000363708.4:n.247+19A>G
ENST00000638587.1:c.176+15A>G	ENSP00000491062.1:n.176+15A>G
ENST00000374574.2:c.247+19A>G	ENSP00000363702.2:n.247+19A>G
ENST00000374580.8:c.247+19A>G	ENSP00000363708.4:n.247+19A>G
ENST00000479069.1:n.154+19A>G
NM_001204.6:c.247+19A>G , LRG_712t1:c.247+19A>G	NP_001195.2:n.247+19A>G
XM_011511687.1:c.247+19A>G	XP_011509989.1:n.247+19A>G
XM_011511688.1:c.247+19A>G	XP_011509990.1:n.247+19A>G
NM_001204.7:c.247+19A>G MANE Select	NP_001195.2:n.247+19A>G