Canonical Allele Identifier: CA1321474673
Gene: BMPR2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.202377493_202377494delinsCG , CM000664.2:g.202377493_202377494delinsCG GRCh38
NC_000002.11:g.203242216_203242217delinsCG , CM000664.1:g.203242216_203242217delinsCG GRCh37
NC_000002.10:g.202950461_202950462delinsCG NCBI36
NG_009363.1:g.6167_6168delinsCG , LRG_712:g.6167_6168delinsCG

Transcript Alleles

HGVS Amino-acid change
ENST00000374580.10:c.19_20delinsCG MANE Select ENSP00000363708.4:p.Arg7=
ENST00000374574.2:c.19_20delinsCG ENSP00000363702.2:p.Arg7=
ENST00000374580.8:c.19_20delinsCG ENSP00000363708.4:p.Arg7=
NM_001204.6:c.19_20delinsCG , LRG_712t1:c.19_20delinsCG NP_001195.2:p.Arg7=
XM_011511687.1:c.19_20delinsCG XP_011509989.1:p.Arg7=
XM_011511688.1:c.19_20delinsCG XP_011509990.1:p.Arg7=
NM_001204.7:c.19_20delinsCG MANE Select NP_001195.2:p.Arg7=