Canonical Allele Identifier: CA430859888

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 1125341
• ClinVar RCV Id: RCV001457038
• dbSNP Id: rs2106042166
• gnomAD v4: 2-202552799-A-G
• MyVariant Identifiers: chr2:g.203417522A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202552799A>G , CM000664.2:g.202552799A>G	GRCh38
NC_000002.11:g.203417522A>G , CM000664.1:g.203417522A>G	GRCh37
NC_000002.10:g.203125767A>G	NCBI36
NG_009363.1:g.181473A>G , LRG_712:g.181473A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1497A>G MANE Select	ENSP00000363708.4:p.Glu499=
ENST00000638587.1:c.1428A>G	ENSP00000491062.1:p.Glu476=
ENST00000374574.2:c.1497A>G	ENSP00000363702.2:p.Glu499=
ENST00000374580.8:c.1497A>G	ENSP00000363708.4:p.Glu499=
NM_001204.6:c.1497A>G , LRG_712t1:c.1497A>G	NP_001195.2:p.Glu499=
XM_011511687.1:c.1497A>G	XP_011509989.1:p.Glu499=
XM_011511688.1:c.1497A>G	XP_011509990.1:p.Glu499=
NM_001204.7:c.1497A>G MANE Select	NP_001195.2:p.Glu499=