Canonical Allele Identifier: CA1240245503

Gene: EIF2B4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367543G= , CM000664.2:g.27367543G=	GRCh38
NC_000002.11:g.27590410G= , CM000664.1:g.27590410G=	GRCh37
NC_000002.10:g.27443914G=	NCBI36
NG_009305.1:g.7915C=

Transcript Alleles

HGVS	Amino-acid change
ENST00000347454.9:c.799C= MANE Select	ENSP00000233552.6:p.Arg267=
ENST00000347454.8:c.799C=	ENSP00000233552.5:p.Arg267=
ENST00000405940.6:c.*65C=	ENSP00000384375.2:n.*65C=
ENST00000417567.1:c.375C=
ENST00000445933.6:c.796C=	ENSP00000394397.2:p.Arg266=
ENST00000451130.6:c.859C=	ENSP00000394869.2:p.Arg287=
ENST00000475582.5:n.2308C=
ENST00000493344.6:c.862C=	ENSP00000429323.1:p.Arg288=
ENST00000616081.4:c.790C=	ENSP00000477710.1:p.Arg264=
ENST00000622434.4:c.*65C=	ENSP00000479991.1:n.*65C=
NM_001034116.1:c.799C=	NP_001029288.1:p.Arg267=
NM_015636.3:c.796C=	NP_056451.3:p.Arg266=
NM_172195.3:c.859C=	NP_751945.2:p.Arg287=
XM_005264632.1:c.754C=	XP_005264689.1:p.Arg252=
XM_006712132.1:c.751C=	XP_006712195.1:p.Arg251=
XM_011533147.1:c.181C=	XP_011531449.1:p.Arg61=
NM_001318965.1:c.862C=	NP_001305894.1:p.Arg288=
NM_001318966.1:c.754C=	NP_001305895.1:p.Arg252=
NM_001318967.1:c.706C=	NP_001305896.1:p.Arg236=
NM_001318968.1:c.214C=	NP_001305897.1:p.Arg72=
NM_001318969.1:c.181C=	NP_001305898.1:p.Arg61=
XM_011533147.2:c.181C=	XP_011531449.1:p.Arg61=
NM_001034116.2:c.799C= MANE Select	NP_001029288.1:p.Arg267=
NM_001318965.2:c.862C=	NP_001305894.1:p.Arg288=
NM_001318966.2:c.754C=	NP_001305895.1:p.Arg252=
NM_001318967.2:c.706C=	NP_001305896.1:p.Arg236=
NM_001318968.2:c.214C=	NP_001305897.1:p.Arg72=
NM_001318969.2:c.181C=	NP_001305898.1:p.Arg61=
NM_015636.4:c.796C=	NP_056451.3:p.Arg266=
NM_172195.4:c.859C=	NP_751945.2:p.Arg287=