Canonical Allele Identifier: CA350399488
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425729
ClinVar RCV Id: RCV000488505
dbSNP Id: rs1085307187

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202464979G>A , CM000664.2:g.202464979G>A GRCh38
NC_000002.11:g.203329702G>A , CM000664.1:g.203329702G>A GRCh37
NC_000002.10:g.203037947G>A NCBI36
NG_009363.1:g.93653G>A , LRG_712:g.93653G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.247G>A MANE Select ENSP00000363708.4:p.Gly83Arg
ENST00000638587.1:c.172G>A ENSP00000491062.1:p.Gly58Ser
ENST00000374574.2:c.247G>A ENSP00000363702.2:p.Gly83Arg
ENST00000374580.8:c.247G>A ENSP00000363708.4:p.Gly83Arg
ENST00000479069.1:n.154G>A
NM_001204.6:c.247G>A , LRG_712t1:c.247G>A NP_001195.2:p.Gly83Arg
XM_011511687.1:c.247G>A XP_011509989.1:p.Gly83Arg
XM_011511688.1:c.247G>A XP_011509990.1:p.Gly83Arg
NM_001204.7:c.247G>A MANE Select NP_001195.2:p.Gly83Arg