Canonical Allele Identifier: CA1240245802

Gene: EIF2B4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367786G= , CM000664.2:g.27367786G=	GRCh38
NC_000002.11:g.27590653G= , CM000664.1:g.27590653G=	GRCh37
NC_000002.10:g.27444157G=	NCBI36
NG_009305.1:g.7672C=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.742C= MANE Select	ENSP00000233552.6:p.Leu248=
ENST00000347454.8:c.742C=	ENSP00000233552.5:p.Leu248=
ENST00000405940.6:c.*8C=	ENSP00000384375.2:n.*8C=
ENST00000417567.1:c.318C=
ENST00000445933.6:c.739C=	ENSP00000394397.2:p.Leu247=
ENST00000451130.6:c.802C=	ENSP00000394869.2:p.Leu268=
ENST00000475582.5:n.2065C=
ENST00000493344.6:c.805C=	ENSP00000429323.1:p.Leu269=
ENST00000616081.4:c.733C=	ENSP00000477710.1:p.Leu245=
ENST00000622434.4:c.*8C=	ENSP00000479991.1:n.*8C=
NM_001034116.1:c.742C=	NP_001029288.1:p.Leu248=
NM_015636.3:c.739C=	NP_056451.3:p.Leu247=
NM_172195.3:c.802C=	NP_751945.2:p.Leu268=
XM_005264632.1:c.697C=	XP_005264689.1:p.Leu233=
XM_006712132.1:c.694C=	XP_006712195.1:p.Leu232=
XM_011533147.1:c.124C=	XP_011531449.1:p.Leu42=
NM_001318965.1:c.805C=	NP_001305894.1:p.Leu269=
NM_001318966.1:c.697C=	NP_001305895.1:p.Leu233=
NM_001318967.1:c.649C=	NP_001305896.1:p.Leu217=
NM_001318968.1:c.157C=	NP_001305897.1:p.Leu53=
NM_001318969.1:c.124C=	NP_001305898.1:p.Leu42=
XM_011533147.2:c.124C=	XP_011531449.1:p.Leu42=
NM_001034116.2:c.742C= MANE Select	NP_001029288.1:p.Leu248=
NM_001318965.2:c.805C=	NP_001305894.1:p.Leu269=
NM_001318966.2:c.697C=	NP_001305895.1:p.Leu233=
NM_001318967.2:c.649C=	NP_001305896.1:p.Leu217=
NM_001318968.2:c.157C=	NP_001305897.1:p.Leu53=
NM_001318969.2:c.124C=	NP_001305898.1:p.Leu42=
NM_015636.4:c.739C=	NP_056451.3:p.Leu247=
NM_172195.4:c.802C=	NP_751945.2:p.Leu268=