Canonical Allele Identifier: CA1321545804

Gene: BMPR2

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.202532982_202532984delinsCTG , CM000664.2:g.202532982_202532984delinsCTG	GRCh38
NC_000002.11:g.203397705_203397707delinsCTG , CM000664.1:g.203397705_203397707delinsCTG	GRCh37
NC_000002.10:g.203105950_203105952delinsCTG	NCBI36
NG_009363.1:g.161656_161658delinsCTG , LRG_712:g.161656_161658delinsCTG

Transcript Alleles

HGVS	Amino-acid Change
ENST00000374580.10:c.1276+250_1276+252delinsCTG MANE Select	ENSP00000363708.4:n.1276+250_1276+252delinsCTG
ENST00000638587.1:c.1207+250_1207+252delinsCTG	ENSP00000491062.1:n.1207+250_1207+252delinsCTG
ENST00000374574.2:c.1276+250_1276+252delinsCTG	ENSP00000363702.2:n.1276+250_1276+252delinsCTG
ENST00000374580.8:c.1276+250_1276+252delinsCTG	ENSP00000363708.4:n.1276+250_1276+252delinsCTG
NM_001204.6:c.1276+250_1276+252delinsCTG , LRG_712t1:c.1276+250_1276+252delinsCTG	NP_001195.2:n.1276+250_1276+252delinsCTG
XM_011511687.1:c.1276+250_1276+252delinsCTG	XP_011509989.1:n.1276+250_1276+252delinsCTG
XM_011511688.1:c.1276+250_1276+252delinsCTG	XP_011509990.1:n.1276+250_1276+252delinsCTG
NM_001204.7:c.1276+250_1276+252delinsCTG MANE Select	NP_001195.2:n.1276+250_1276+252delinsCTG