Canonical Allele Identifier: CA350341737
Gene: BMPR2 HGNC NCBI

Linked Data

ClinVar Variation Id: 425884
ClinVar RCV Id: RCV000488820
dbSNP Id: rs1085307306

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202532612G>C , CM000664.2:g.202532612G>C GRCh38
NC_000002.11:g.203397335G>C , CM000664.1:g.203397335G>C GRCh37
NC_000002.10:g.203105580G>C NCBI36
NG_009363.1:g.161286G>C , LRG_712:g.161286G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000374580.10:c.1156G>C MANE Select ENSP00000363708.4:p.Glu386Gln
ENST00000638587.1:c.1087G>C ENSP00000491062.1:p.Glu363Gln
ENST00000374574.2:c.1156G>C ENSP00000363702.2:p.Glu386Gln
ENST00000374580.8:c.1156G>C ENSP00000363708.4:p.Glu386Gln
NM_001204.6:c.1156G>C , LRG_712t1:c.1156G>C NP_001195.2:p.Glu386Gln
XM_011511687.1:c.1156G>C XP_011509989.1:p.Glu386Gln
XM_011511688.1:c.1156G>C XP_011509990.1:p.Glu386Gln
NM_001204.7:c.1156G>C MANE Select NP_001195.2:p.Glu386Gln