Canonical Allele Identifier: CA1268208161

Gene: EIF2AK3

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575236C= , CM000664.2:g.88575236C=	GRCh38
NC_000002.11:g.88874754C= , CM000664.1:g.88874754C=	GRCh37
NC_000002.10:g.88655869C=	NCBI36
NG_016424.1:g.57341G=

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2075G=
ENST00000682276.1:n.1692G=
ENST00000682892.1:c.1794G=	ENSP00000507214.1:p.Glu598=
ENST00000682952.1:n.1886G=
ENST00000684455.1:c.1460G=
ENST00000684642.1:c.1644G=	ENSP00000507355.1:p.Glu548=
ENST00000684740.1:n.2425G=
ENST00000303236.9:c.2247G= MANE Select	ENSP00000307235.3:p.Glu749=
ENST00000652099.1:c.2441G=
ENST00000652736.1:n.2123G=
ENST00000303236.7:c.2247G=	ENSP00000307235.3:p.Glu749=
ENST00000415570.1:c.1884G=	ENSP00000412076.1:p.Glu628=
ENST00000419748.5:c.1794G=	ENSP00000408325.1:p.Glu598=
ENST00000470706.1:n.48+125G=
NM_001313915.1:c.1794G=	NP_001300844.1:p.Glu598=
NM_004836.5:c.2247G=	NP_004827.4:p.Glu749=
NM_004836.6:c.2247G=	NP_004827.4:p.Glu749=
NR_110236.1:n.1373C=
XM_005264649.3:c.1563G=	XP_005264706.1:p.Glu521=
XM_017005376.2:c.1563G=	XP_016860865.1:p.Glu521=
NM_004836.7:c.2247G= MANE Select	NP_004827.4:p.Glu749=
NM_001313915.2:c.1794G=	NP_001300844.1:p.Glu598=