Canonical Allele Identifier: CA915941637
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 812945
ClinVar RCV Id: RCV001003881

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202508280_202517537del , CM000664.2:g.202508280_202517537del GRCh38
NC_000002.11:g.203373003_203382260del , CM000664.1:g.203373003_203382260del GRCh37
NC_000002.10:g.203081248_203090505del NCBI36
NG_009363.1:g.136954_146211del , LRG_712:g.136954_146211del

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.419-5439_622-1285del
ENST00000638587.1:c.350-5439_553-1285del
ENST00000374574.2:c.419-5439_622-1285del
ENST00000374580.8:c.419-5439_622-1285del
NM_001204.6:c.419-5439_622-1285del , LRG_712t1:c.419-5439_622-1285del
XM_011511687.1:c.419-5439_622-1285del
XM_011511688.1:c.419-5439_622-1285del
NM_001204.7:c.419-5439_622-1285del