Canonical Allele Identifier: CA2061047

Gene: BMPR2

Linked Data

• dbSNP Id: rs762330274
• ExAC: 2:203329638 G / A
• gnomAD v2: 2-203329638-G-A
• gnomAD v4: 2-202464915-G-A
• MyVariant Identifiers: chr2:g.203329638G>A (hg19) ; chr2:g.202464915G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202464915G>A , CM000664.2:g.202464915G>A	GRCh38
NC_000002.11:g.203329638G>A , CM000664.1:g.203329638G>A	GRCh37
NC_000002.10:g.203037883G>A	NCBI36
NG_009363.1:g.93589G>A , LRG_712:g.93589G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.183G>A MANE Select	ENSP00000363708.4:p.Ser61=
ENST00000638587.1:c.108G>A	ENSP00000491062.1:p.Ser36=
ENST00000374574.2:c.183G>A	ENSP00000363702.2:p.Ser61=
ENST00000374580.8:c.183G>A	ENSP00000363708.4:p.Ser61=
ENST00000479069.1:n.90G>A
NM_001204.6:c.183G>A , LRG_712t1:c.183G>A	NP_001195.2:p.Ser61=
XM_011511687.1:c.183G>A	XP_011509989.1:p.Ser61=
XM_011511688.1:c.183G>A	XP_011509990.1:p.Ser61=
NM_001204.7:c.183G>A MANE Select	NP_001195.2:p.Ser61=