Canonical Allele Identifier: CA350340846
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425844
dbSNP Id: rs1085307274

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202520166G>A , CM000664.2:g.202520166G>A GRCh38
NC_000002.11:g.203384889G>A , CM000664.1:g.203384889G>A GRCh37
NC_000002.10:g.203093134G>A NCBI36
NG_009363.1:g.148840G>A , LRG_712:g.148840G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.932G>A MANE Select ENSP00000363708.4:p.Gly311Glu
ENST00000638587.1:c.863G>A ENSP00000491062.1:p.Gly288Glu
ENST00000374574.2:c.932G>A ENSP00000363702.2:p.Gly311Glu
ENST00000374580.8:c.932G>A ENSP00000363708.4:p.Gly311Glu
NM_001204.6:c.932G>A , LRG_712t1:c.932G>A NP_001195.2:p.Gly311Glu
XM_011511687.1:c.932G>A XP_011509989.1:p.Gly311Glu
XM_011511688.1:c.932G>A XP_011509990.1:p.Gly311Glu
NM_001204.7:c.932G>A MANE Select NP_001195.2:p.Gly311Glu