Canonical Allele Identifier: CA350399505
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2697677
ClinVar RCV Id: RCV003596302

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202467519G>T , CM000664.2:g.202467519G>T GRCh38
NC_000002.11:g.203332242G>T , CM000664.1:g.203332242G>T GRCh37
NC_000002.10:g.203040487G>T NCBI36
NG_009363.1:g.96193G>T , LRG_712:g.96193G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.248G>T MANE Select ENSP00000363708.4:p.Gly83Val
ENST00000638587.1:c.179G>T ENSP00000491062.1:p.Arg60Ile
ENST00000374574.2:c.248G>T ENSP00000363702.2:p.Gly83Val
ENST00000374580.8:c.248G>T ENSP00000363708.4:p.Gly83Val
ENST00000479069.1:n.155G>T
NM_001204.6:c.248G>T , LRG_712t1:c.248G>T NP_001195.2:p.Gly83Val
XM_011511687.1:c.248G>T XP_011509989.1:p.Gly83Val
XM_011511688.1:c.248G>T XP_011509990.1:p.Gly83Val
NM_001204.7:c.248G>T MANE Select NP_001195.2:p.Gly83Val