Canonical Allele Identifier: CA347591457

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1279792355
• gnomAD v2: 2-88874576-C-T
• gnomAD v4: 2-88575058-C-T
• COSMIC: COSM722934 ; COSM1647359
• MyVariant Identifiers: chr2:g.88874576C>T (hg19) ; chr2:g.88575058C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575058C>T , CM000664.2:g.88575058C>T	GRCh38
NC_000002.11:g.88874576C>T , CM000664.1:g.88874576C>T	GRCh37
NC_000002.10:g.88655691C>T	NCBI36
NG_016424.1:g.57519G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2253G>A
ENST00000682276.1:n.1870G>A
ENST00000682892.1:c.1972G>A	ENSP00000507214.1:p.Glu658Lys
ENST00000682952.1:n.2064G>A
ENST00000684455.1:c.1638G>A
ENST00000684642.1:c.1822G>A	ENSP00000507355.1:p.Glu608Lys
ENST00000684740.1:n.2603G>A
ENST00000303236.9:c.2425G>A MANE Select	ENSP00000307235.3:p.Glu809Lys
ENST00000652099.1:c.2619G>A
ENST00000652736.1:n.2301G>A
ENST00000303236.7:c.2425G>A	ENSP00000307235.3:p.Glu809Lys
ENST00000415570.1:c.2062G>A	ENSP00000412076.1:p.Glu688Lys
ENST00000419748.5:c.1972G>A	ENSP00000408325.1:p.Glu658Lys
ENST00000470706.1:n.68G>A
NM_001313915.1:c.1972G>A	NP_001300844.1:p.Glu658Lys
NM_004836.5:c.2425G>A	NP_004827.4:p.Glu809Lys
NM_004836.6:c.2425G>A	NP_004827.4:p.Glu809Lys
NR_110236.1:n.1195C>T
XM_005264649.3:c.1741G>A	XP_005264706.1:p.Glu581Lys
XM_017005376.2:c.1741G>A	XP_016860865.1:p.Glu581Lys
NM_004836.7:c.2425G>A MANE Select	NP_004827.4:p.Glu809Lys
NM_001313915.2:c.1972G>A	NP_001300844.1:p.Glu658Lys