Canonical Allele Identifier: CA2061376
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 897320
ClinVar RCV Id: RCV001140514
dbSNP Id: rs767730208

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202552716G>A , CM000664.2:g.202552716G>A GRCh38
NC_000002.11:g.203417439G>A , CM000664.1:g.203417439G>A GRCh37
NC_000002.10:g.203125684G>A NCBI36
NG_009363.1:g.181390G>A , LRG_712:g.181390G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.1414G>A MANE Select ENSP00000363708.4:p.Ala472Thr
ENST00000638587.1:c.1345G>A ENSP00000491062.1:p.Ala449Thr
ENST00000374574.2:c.1414G>A ENSP00000363702.2:p.Ala472Thr
ENST00000374580.8:c.1414G>A ENSP00000363708.4:p.Ala472Thr
NM_001204.6:c.1414G>A , LRG_712t1:c.1414G>A NP_001195.2:p.Ala472Thr
XM_011511687.1:c.1414G>A XP_011509989.1:p.Ala472Thr
XM_011511688.1:c.1414G>A XP_011509990.1:p.Ala472Thr
NM_001204.7:c.1414G>A MANE Select NP_001195.2:p.Ala472Thr