Canonical Allele Identifier: CA913189655

Gene: BMPR2

Linked Data

• ClinVar Variation Id: 617994
• ClinVar RCV Id: RCV000755851
• dbSNP Id: rs1559070248

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202542376del , CM000664.2:g.202542376del	GRCh38
NC_000002.11:g.203407099del , CM000664.1:g.203407099del	GRCh37
NC_000002.10:g.203115344del	NCBI36
NG_009363.1:g.171050del , LRG_712:g.171050del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1342del MANE Select	ENSP00000363708.4:p.Asp448IlefsTer26
ENST00000638587.1:c.1273del	ENSP00000491062.1:p.Asp425IlefsTer26
ENST00000374574.2:c.1342del	ENSP00000363702.2:p.Asp448IlefsTer26
ENST00000374580.8:c.1342del	ENSP00000363708.4:p.Asp448IlefsTer26
NM_001204.6:c.1342del , LRG_712t1:c.1342del	NP_001195.2:p.Asp448IlefsTer26
XM_011511687.1:c.1342del	XP_011509989.1:p.Asp448IlefsTer26
XM_011511688.1:c.1342del	XP_011509990.1:p.Asp448IlefsTer26
NM_001204.7:c.1342del MANE Select	NP_001195.2:p.Asp448IlefsTer26