Canonical Allele Identifier: CA350341908

Gene: BMPR2

Linked Data

• dbSNP Id: rs1191486486
• gnomAD v2: 2-203397408-G-T
• gnomAD v4: 2-202532685-G-T
• COSMIC: COSM334431
• MyVariant Identifiers: chr2:g.203397408G>T (hg19) ; chr2:g.202532685G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532685G>T , CM000664.2:g.202532685G>T	GRCh38
NC_000002.11:g.203397408G>T , CM000664.1:g.203397408G>T	GRCh37
NC_000002.10:g.203105653G>T	NCBI36
NG_009363.1:g.161359G>T , LRG_712:g.161359G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1229G>T MANE Select	ENSP00000363708.4:p.Gly410Val
ENST00000638587.1:c.1160G>T	ENSP00000491062.1:p.Gly387Val
ENST00000374574.2:c.1229G>T	ENSP00000363702.2:p.Gly410Val
ENST00000374580.8:c.1229G>T	ENSP00000363708.4:p.Gly410Val
NM_001204.6:c.1229G>T , LRG_712t1:c.1229G>T	NP_001195.2:p.Gly410Val
XM_011511687.1:c.1229G>T	XP_011509989.1:p.Gly410Val
XM_011511688.1:c.1229G>T	XP_011509990.1:p.Gly410Val
NM_001204.7:c.1229G>T MANE Select	NP_001195.2:p.Gly410Val