Canonical Allele Identifier: CA350344485
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425947
dbSNP Id: rs1085307355

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202552753G>A , CM000664.2:g.202552753G>A GRCh38
NC_000002.11:g.203417476G>A , CM000664.1:g.203417476G>A GRCh37
NC_000002.10:g.203125721G>A NCBI36
NG_009363.1:g.181427G>A , LRG_712:g.181427G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1451G>A MANE Select ENSP00000363708.4:p.Trp484Ter
ENST00000638587.1:c.1382G>A ENSP00000491062.1:p.Trp461Ter
ENST00000374574.2:c.1451G>A ENSP00000363702.2:p.Trp484Ter
ENST00000374580.8:c.1451G>A ENSP00000363708.4:p.Trp484Ter
NM_001204.6:c.1451G>A , LRG_712t1:c.1451G>A NP_001195.2:p.Trp484Ter
XM_011511687.1:c.1451G>A XP_011509989.1:p.Trp484Ter
XM_011511688.1:c.1451G>A XP_011509990.1:p.Trp484Ter
NM_001204.7:c.1451G>A MANE Select NP_001195.2:p.Trp484Ter