Canonical Allele Identifier: CA1240245485

Gene: EIF2B4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367536A= , CM000664.2:g.27367536A=	GRCh38
NC_000002.11:g.27590403A= , CM000664.1:g.27590403A=	GRCh37
NC_000002.10:g.27443907A=	NCBI36
NG_009305.1:g.7922T=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.806T= MANE Select	ENSP00000233552.6:p.Leu269=
ENST00000347454.8:c.806T=	ENSP00000233552.5:p.Leu269=
ENST00000405940.6:c.*72T=	ENSP00000384375.2:n.*72T=
ENST00000417567.1:c.382T=
ENST00000445933.6:c.803T=	ENSP00000394397.2:p.Leu268=
ENST00000451130.6:c.866T=	ENSP00000394869.2:p.Leu289=
ENST00000475582.5:n.2315T=
ENST00000493344.6:c.869T=	ENSP00000429323.1:p.Leu290=
ENST00000616081.4:c.797T=	ENSP00000477710.1:p.Leu266=
ENST00000622434.4:c.*72T=	ENSP00000479991.1:n.*72T=
NM_001034116.1:c.806T=	NP_001029288.1:p.Leu269=
NM_015636.3:c.803T=	NP_056451.3:p.Leu268=
NM_172195.3:c.866T=	NP_751945.2:p.Leu289=
XM_005264632.1:c.761T=	XP_005264689.1:p.Leu254=
XM_006712132.1:c.758T=	XP_006712195.1:p.Leu253=
XM_011533147.1:c.188T=	XP_011531449.1:p.Leu63=
NM_001318965.1:c.869T=	NP_001305894.1:p.Leu290=
NM_001318966.1:c.761T=	NP_001305895.1:p.Leu254=
NM_001318967.1:c.713T=	NP_001305896.1:p.Leu238=
NM_001318968.1:c.221T=	NP_001305897.1:p.Leu74=
NM_001318969.1:c.188T=	NP_001305898.1:p.Leu63=
XM_011533147.2:c.188T=	XP_011531449.1:p.Leu63=
NM_001034116.2:c.806T= MANE Select	NP_001029288.1:p.Leu269=
NM_001318965.2:c.869T=	NP_001305894.1:p.Leu290=
NM_001318966.2:c.761T=	NP_001305895.1:p.Leu254=
NM_001318967.2:c.713T=	NP_001305896.1:p.Leu238=
NM_001318968.2:c.221T=	NP_001305897.1:p.Leu74=
NM_001318969.2:c.188T=	NP_001305898.1:p.Leu63=
NM_015636.4:c.803T=	NP_056451.3:p.Leu268=
NM_172195.4:c.866T=	NP_751945.2:p.Leu289=