Canonical Allele Identifier: CA2061594

Gene: BMPR2

Linked Data

• dbSNP Id: rs745798716
• ExAC: 2:203421242 A / G
• gnomAD v2: 2-203421242-A-G
• gnomAD v3: 2-202556519-A-G
• gnomAD v4: 2-202556519-A-G
• MyVariant Identifiers: chr2:g.203421242A>G (hg19) ; chr2:g.202556519A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202556519A>G , CM000664.2:g.202556519A>G	GRCh38
NC_000002.11:g.203421242A>G , CM000664.1:g.203421242A>G	GRCh37
NC_000002.10:g.203129487A>G	NCBI36
NG_009363.1:g.185193A>G , LRG_712:g.185193A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.2854A>G MANE Select	ENSP00000363708.4:p.Ser952Gly
ENST00000638587.1:c.2785A>G	ENSP00000491062.1:n.2785A>G
ENST00000374574.2:c.1587-3177A>G	ENSP00000363702.2:n.1587-3177A>G
ENST00000374580.8:c.2854A>G	ENSP00000363708.4:p.Ser952Gly
NM_001204.6:c.2854A>G , LRG_712t1:c.2854A>G	NP_001195.2:p.Ser952Gly
XM_011511687.1:c.2854A>G	XP_011509989.1:p.Ser952Gly
XM_011511688.1:c.1587-3177A>G	XP_011509990.1:n.1587-3177A>G
NM_001204.7:c.2854A>G MANE Select	NP_001195.2:p.Ser952Gly