Canonical Allele Identifier: CA350340524
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 812817
ClinVar RCV Id: RCV001003691
dbSNP Id: rs1414031345

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202518993G>T , CM000664.2:g.202518993G>T GRCh38
NC_000002.11:g.203383716G>T , CM000664.1:g.203383716G>T GRCh37
NC_000002.10:g.203091961G>T NCBI36
NG_009363.1:g.147667G>T , LRG_712:g.147667G>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.793G>T MANE Select ENSP00000363708.4:p.Glu265Ter
ENST00000638587.1:c.724G>T ENSP00000491062.1:p.Glu242Ter
ENST00000374574.2:c.793G>T ENSP00000363702.2:p.Glu265Ter
ENST00000374580.8:c.793G>T ENSP00000363708.4:p.Glu265Ter
NM_001204.6:c.793G>T , LRG_712t1:c.793G>T NP_001195.2:p.Glu265Ter
XM_011511687.1:c.793G>T XP_011509989.1:p.Glu265Ter
XM_011511688.1:c.793G>T XP_011509990.1:p.Glu265Ter
NM_001204.7:c.793G>T MANE Select NP_001195.2:p.Glu265Ter