Canonical Allele Identifier: CA1321545663

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532644_202532646delinsCTG , CM000664.2:g.202532644_202532646delinsCTG	GRCh38
NC_000002.11:g.203397367_203397369delinsCTG , CM000664.1:g.203397367_203397369delinsCTG	GRCh37
NC_000002.10:g.203105612_203105614delinsCTG	NCBI36
NG_009363.1:g.161318_161320delinsCTG , LRG_712:g.161318_161320delinsCTG

Transcript Alleles

HGVS	Amino-acid change
ENST00000374580.10:c.1188_1190delinsCTG MANE Select	ENSP00000363708.4:p.Asp396=
ENST00000638587.1:c.1119_1121delinsCTG	ENSP00000491062.1:p.Asp373=
ENST00000374574.2:c.1188_1190delinsCTG	ENSP00000363702.2:p.Asp396=
ENST00000374580.8:c.1188_1190delinsCTG	ENSP00000363708.4:p.Asp396=
NM_001204.6:c.1188_1190delinsCTG , LRG_712t1:c.1188_1190delinsCTG	NP_001195.2:p.Asp396=
XM_011511687.1:c.1188_1190delinsCTG	XP_011509989.1:p.Asp396=
XM_011511688.1:c.1188_1190delinsCTG	XP_011509990.1:p.Asp396=
NM_001204.7:c.1188_1190delinsCTG MANE Select	NP_001195.2:p.Asp396=