Canonical Allele Identifier: CA347592466

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575280-C-T
• MyVariant Identifiers: chr2:g.88874798C>T (hg19) ; chr2:g.88575280C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575280C>T , CM000664.2:g.88575280C>T	GRCh38
NC_000002.11:g.88874798C>T , CM000664.1:g.88874798C>T	GRCh37
NC_000002.10:g.88655913C>T	NCBI36
NG_016424.1:g.57297G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478003.2:n.2031G>A
ENST00000682276.1:n.1648G>A
ENST00000682892.1:c.1750G>A	ENSP00000507214.1:p.Glu584Lys
ENST00000682952.1:n.1842G>A
ENST00000684455.1:c.1416G>A
ENST00000684642.1:c.1600G>A	ENSP00000507355.1:p.Glu534Lys
ENST00000684740.1:n.2381G>A
ENST00000303236.9:c.2203G>A MANE Select	ENSP00000307235.3:p.Glu735Lys
ENST00000652099.1:c.2397G>A
ENST00000652736.1:n.2079G>A
ENST00000303236.7:c.2203G>A	ENSP00000307235.3:p.Glu735Lys
ENST00000415570.1:c.1840G>A	ENSP00000412076.1:p.Glu614Lys
ENST00000419748.5:c.1750G>A	ENSP00000408325.1:p.Glu584Lys
ENST00000470706.1:n.48+81G>A
NM_001313915.1:c.1750G>A	NP_001300844.1:p.Glu584Lys
NM_004836.5:c.2203G>A	NP_004827.4:p.Glu735Lys
NM_004836.6:c.2203G>A	NP_004827.4:p.Glu735Lys
NR_110236.1:n.1417C>T
XM_005264649.3:c.1519G>A	XP_005264706.1:p.Glu507Lys
XR_939749.1:n.2482G>A
XM_017005376.2:c.1519G>A	XP_016860865.1:p.Glu507Lys
NM_004836.7:c.2203G>A MANE Select	NP_004827.4:p.Glu735Lys
NM_001313915.2:c.1750G>A	NP_001300844.1:p.Glu584Lys