Canonical Allele Identifier: CA16610570
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 409828
dbSNP Id: rs1060502583

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202552811A>C , CM000664.2:g.202552811A>C GRCh38
NC_000002.11:g.203417534A>C , CM000664.1:g.203417534A>C GRCh37
NC_000002.10:g.203125779A>C NCBI36
NG_009363.1:g.181485A>C , LRG_712:g.181485A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1509A>C MANE Select ENSP00000363708.4:p.Glu503Asp
ENST00000638587.1:c.1440A>C ENSP00000491062.1:p.Glu480Asp
ENST00000374574.2:c.1509A>C ENSP00000363702.2:p.Glu503Asp
ENST00000374580.8:c.1509A>C ENSP00000363708.4:p.Glu503Asp
NM_001204.6:c.1509A>C , LRG_712t1:c.1509A>C NP_001195.2:p.Glu503Asp
XM_011511687.1:c.1509A>C XP_011509989.1:p.Glu503Asp
XM_011511688.1:c.1509A>C XP_011509990.1:p.Glu503Asp
NM_001204.7:c.1509A>C MANE Select NP_001195.2:p.Glu503Asp