Canonical Allele Identifier: CA350347721

Gene: BMPR2

Linked Data

• dbSNP Id: rs1422236187
• gnomAD v2: 2-203420583-G-A
• gnomAD v4: 2-202555860-G-A
• MyVariant Identifiers: chr2:g.203420583G>A (hg19) ; chr2:g.202555860G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202555860G>A , CM000664.2:g.202555860G>A	GRCh38
NC_000002.11:g.203420583G>A , CM000664.1:g.203420583G>A	GRCh37
NC_000002.10:g.203128828G>A	NCBI36
NG_009363.1:g.184534G>A , LRG_712:g.184534G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.2195G>A MANE Select	ENSP00000363708.4:p.Cys732Tyr
ENST00000638587.1:c.2126G>A	ENSP00000491062.1:n.2126G>A
ENST00000374574.2:c.1586+2972G>A	ENSP00000363702.2:n.1586+2972G>A
ENST00000374580.8:c.2195G>A	ENSP00000363708.4:p.Cys732Tyr
NM_001204.6:c.2195G>A , LRG_712t1:c.2195G>A	NP_001195.2:p.Cys732Tyr
XM_011511687.1:c.2195G>A	XP_011509989.1:p.Cys732Tyr
XM_011511688.1:c.1586+2972G>A	XP_011509990.1:n.1586+2972G>A
NM_001204.7:c.2195G>A MANE Select	NP_001195.2:p.Cys732Tyr