Canonical Allele Identifier: CA1240246174

Gene: EIF2B4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27368105G= , CM000664.2:g.27368105G=	GRCh38
NC_000002.11:g.27590972G= , CM000664.1:g.27590972G=	GRCh37
NC_000002.10:g.27444476G=	NCBI36
NG_009305.1:g.7353C=

Transcript Alleles

HGVS	Amino-acid Change
NM_001034116.2:c.625C= MANE Select	NP_001029288.1:p.Arg209=
ENST00000347454.9:c.625C= MANE Select	ENSP00000233552.6:p.Arg209=
NM_001034116.1:c.625C=	NP_001029288.1:p.Arg209=
NM_001318965.1:c.688C=	NP_001305894.1:p.Arg230=
NM_001318965.2:c.688C=	NP_001305894.1:p.Arg230=
NM_001318966.1:c.580C=	NP_001305895.1:p.Arg194=
NM_001318966.2:c.580C=	NP_001305895.1:p.Arg194=
NM_001318967.1:c.532C=	NP_001305896.1:p.Arg178=
NM_001318967.2:c.532C=	NP_001305896.1:p.Arg178=
NM_001318968.1:c.40C=	NP_001305897.1:p.Arg14=
NM_001318968.2:c.40C=	NP_001305897.1:p.Arg14=
NM_001318969.1:c.7C=	NP_001305898.1:p.Arg3=
NM_001318969.2:c.7C=	NP_001305898.1:p.Arg3=
NM_015636.3:c.622C=	NP_056451.3:p.Arg208=
NM_015636.4:c.622C=	NP_056451.3:p.Arg208=
NM_172195.3:c.685C=	NP_751945.2:p.Arg229=
NM_172195.4:c.685C=	NP_751945.2:p.Arg229=
ENST00000347454.8:c.625C=	ENSP00000233552.5:p.Arg209=
ENST00000405940.6:c.599C=	ENSP00000384375.2:p.Ala200=
ENST00000417567.1:c.201C=
ENST00000445933.6:c.622C=	ENSP00000394397.2:p.Arg208=
ENST00000451130.6:c.685C=	ENSP00000394869.2:p.Arg229=
ENST00000475582.5:n.1746C=
ENST00000493344.6:c.688C=	ENSP00000429323.1:p.Arg230=
ENST00000616081.4:c.616C=	ENSP00000477710.1:p.Arg206=
ENST00000622434.4:c.580C=	ENSP00000479991.1:p.Arg194=
XM_005264632.1:c.580C=	XP_005264689.1:p.Arg194=
XM_006712132.1:c.577C=	XP_006712195.1:p.Arg193=
XM_011533147.1:c.7C=	XP_011531449.1:p.Arg3=
XM_011533147.2:c.7C=	XP_011531449.1:p.Arg3=