Canonical Allele Identifier: CA1321474674

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202377494_202377503delinsGGCCCTGGCG , CM000664.2:g.202377494_202377503delinsGGCCCTGGCG	GRCh38
NC_000002.11:g.203242217_203242226delinsGGCCCTGGCG , CM000664.1:g.203242217_203242226delinsGGCCCTGGCG	GRCh37
NC_000002.10:g.202950462_202950471delinsGGCCCTGGCG	NCBI36
NG_009363.1:g.6168_6177delinsGGCCCTGGCG , LRG_712:g.6168_6177delinsGGCCCTGGCG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.20_29delinsGGCCCTGGCG MANE Select	ENSP00000363708.4:p.Arg7=
ENST00000374574.2:c.20_29delinsGGCCCTGGCG	ENSP00000363702.2:p.Arg7=
ENST00000374580.8:c.20_29delinsGGCCCTGGCG	ENSP00000363708.4:p.Arg7=
NM_001204.6:c.20_29delinsGGCCCTGGCG , LRG_712t1:c.20_29delinsGGCCCTGGCG	NP_001195.2:p.Arg7=
XM_011511687.1:c.20_29delinsGGCCCTGGCG	XP_011509989.1:p.Arg7=
XM_011511688.1:c.20_29delinsGGCCCTGGCG	XP_011509990.1:p.Arg7=
NM_001204.7:c.20_29delinsGGCCCTGGCG MANE Select	NP_001195.2:p.Arg7=