Canonical Allele Identifier: CA1041292617

Gene: BMPR2

Linked Data

• dbSNP Id: rs1692284088
• gnomAD v3: 2-202464699-C-CT
• gnomAD v4: 2-202464699-C-CT

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202464699_202464700insT , CM000664.2:g.202464699_202464700insT	GRCh38
NC_000002.11:g.203329422_203329423insT , CM000664.1:g.203329422_203329423insT	GRCh37
NC_000002.10:g.203037667_203037668insT	NCBI36
NG_009363.1:g.93373_93374insT , LRG_712:g.93373_93374insT

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.77-110_77-109insT MANE Select	ENSP00000363708.4:n.77-110_77-109insT
ENST00000374574.2:c.77-110_77-109insT	ENSP00000363702.2:n.77-110_77-109insT
ENST00000374580.8:c.77-110_77-109insT	ENSP00000363708.4:n.77-110_77-109insT
NM_001204.6:c.77-110_77-109insT , LRG_712t1:c.77-110_77-109insT	NP_001195.2:n.77-110_77-109insT
XM_011511687.1:c.77-110_77-109insT	XP_011509989.1:n.77-110_77-109insT
XM_011511688.1:c.77-110_77-109insT	XP_011509990.1:n.77-110_77-109insT
NM_001204.7:c.77-110_77-109insT MANE Select	NP_001195.2:n.77-110_77-109insT