Canonical Allele Identifier: CA1240245813

Gene: EIF2B4

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.27367790T= , CM000664.2:g.27367790T=	GRCh38
NC_000002.11:g.27590657T= , CM000664.1:g.27590657T=	GRCh37
NC_000002.10:g.27444161T=	NCBI36
NG_009305.1:g.7668A=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000347454.9:c.738A= MANE Select	ENSP00000233552.6:p.Glu246=
ENST00000347454.8:c.738A=	ENSP00000233552.5:p.Glu246=
ENST00000405940.6:c.*4A=	ENSP00000384375.2:n.*4A=
ENST00000417567.1:c.314A=
ENST00000445933.6:c.735A=	ENSP00000394397.2:p.Glu245=
ENST00000451130.6:c.798A=	ENSP00000394869.2:p.Glu266=
ENST00000475582.5:n.2061A=
ENST00000493344.6:c.801A=	ENSP00000429323.1:p.Glu267=
ENST00000616081.4:c.729A=	ENSP00000477710.1:p.Glu243=
ENST00000622434.4:c.*4A=	ENSP00000479991.1:n.*4A=
NM_001034116.1:c.738A=	NP_001029288.1:p.Glu246=
NM_015636.3:c.735A=	NP_056451.3:p.Glu245=
NM_172195.3:c.798A=	NP_751945.2:p.Glu266=
XM_005264632.1:c.693A=	XP_005264689.1:p.Glu231=
XM_006712132.1:c.690A=	XP_006712195.1:p.Glu230=
XM_011533147.1:c.120A=	XP_011531449.1:p.Glu40=
NM_001318965.1:c.801A=	NP_001305894.1:p.Glu267=
NM_001318966.1:c.693A=	NP_001305895.1:p.Glu231=
NM_001318967.1:c.645A=	NP_001305896.1:p.Glu215=
NM_001318968.1:c.153A=	NP_001305897.1:p.Glu51=
NM_001318969.1:c.120A=	NP_001305898.1:p.Glu40=
XM_011533147.2:c.120A=	XP_011531449.1:p.Glu40=
NM_001034116.2:c.738A= MANE Select	NP_001029288.1:p.Glu246=
NM_001318965.2:c.801A=	NP_001305894.1:p.Glu267=
NM_001318966.2:c.693A=	NP_001305895.1:p.Glu231=
NM_001318967.2:c.645A=	NP_001305896.1:p.Glu215=
NM_001318968.2:c.153A=	NP_001305897.1:p.Glu51=
NM_001318969.2:c.120A=	NP_001305898.1:p.Glu40=
NM_015636.4:c.735A=	NP_056451.3:p.Glu245=
NM_172195.4:c.798A=	NP_751945.2:p.Glu266=