Canonical Allele Identifier: CA350340878

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 1339392
• ClinVar RCV Id: RCV001823988
• dbSNP Id: rs2106008443
• MyVariant Identifiers: chr2:g.203384904A>G (hg19) ; chr2:g.202520181A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202520181A>G , CM000664.2:g.202520181A>G	GRCh38
NC_000002.11:g.203384904A>G , CM000664.1:g.203384904A>G	GRCh37
NC_000002.10:g.203093149A>G	NCBI36
NG_009363.1:g.148855A>G , LRG_712:g.148855A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.947A>G MANE Select	ENSP00000363708.4:p.His316Arg
ENST00000638587.1:c.878A>G	ENSP00000491062.1:p.His293Arg
ENST00000374574.2:c.947A>G	ENSP00000363702.2:p.His316Arg
ENST00000374580.8:c.947A>G	ENSP00000363708.4:p.His316Arg
NM_001204.6:c.947A>G , LRG_712t1:c.947A>G	NP_001195.2:p.His316Arg
XM_011511687.1:c.947A>G	XP_011509989.1:p.His316Arg
XM_011511688.1:c.947A>G	XP_011509990.1:p.His316Arg
NM_001204.7:c.947A>G MANE Select	NP_001195.2:p.His316Arg