Canonical Allele Identifier: CA427445592

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874838A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575320A>T , CM000664.2:g.88575320A>T	GRCh38
NC_000002.11:g.88874838A>T , CM000664.1:g.88874838A>T	GRCh37
NC_000002.10:g.88655953A>T	NCBI36
NG_016424.1:g.57257T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1991T>A
ENST00000682276.1:n.1608T>A
ENST00000682892.1:c.1710T>A	ENSP00000507214.1:p.Ser570=
ENST00000682952.1:n.1802T>A
ENST00000684455.1:c.1376T>A
ENST00000684642.1:c.1560T>A	ENSP00000507355.1:p.Ser520=
ENST00000684740.1:n.2341T>A
ENST00000303236.9:c.2163T>A MANE Select	ENSP00000307235.3:p.Ser721=
ENST00000652099.1:c.2357T>A
ENST00000652736.1:n.2039T>A
ENST00000303236.7:c.2163T>A	ENSP00000307235.3:p.Ser721=
ENST00000415570.1:c.1800T>A	ENSP00000412076.1:p.Ser600=
ENST00000419748.5:c.1710T>A	ENSP00000408325.1:p.Ser570=
ENST00000470706.1:n.48+41T>A
NM_001313915.1:c.1710T>A	NP_001300844.1:p.Ser570=
NM_004836.5:c.2163T>A	NP_004827.4:p.Ser721=
NM_004836.6:c.2163T>A	NP_004827.4:p.Ser721=
NR_110236.1:n.1457A>T
XM_005264649.3:c.1479T>A	XP_005264706.1:p.Ser493=
XR_939749.1:n.2442T>A
XM_017005376.2:c.1479T>A	XP_016860865.1:p.Ser493=
NM_004836.7:c.2163T>A MANE Select	NP_004827.4:p.Ser721=
NM_001313915.2:c.1710T>A	NP_001300844.1:p.Ser570=