Canonical Allele Identifier: CA347591672

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1488218683
• gnomAD v2: 2-88874626-G-A
• gnomAD v4: 2-88575108-G-A
• MyVariant Identifiers: chr2:g.88874626G>A (hg19) ; chr2:g.88575108G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575108G>A , CM000664.2:g.88575108G>A	GRCh38
NC_000002.11:g.88874626G>A , CM000664.1:g.88874626G>A	GRCh37
NC_000002.10:g.88655741G>A	NCBI36
NG_016424.1:g.57469C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2203C>T
ENST00000682276.1:n.1820C>T
ENST00000682892.1:c.1922C>T	ENSP00000507214.1:p.Ala641Val
ENST00000682952.1:n.2014C>T
ENST00000684455.1:c.1588C>T
ENST00000684642.1:c.1772C>T	ENSP00000507355.1:p.Ala591Val
ENST00000684740.1:n.2553C>T
ENST00000303236.9:c.2375C>T MANE Select	ENSP00000307235.3:p.Ala792Val
ENST00000652099.1:c.2569C>T
ENST00000652736.1:n.2251C>T
ENST00000303236.7:c.2375C>T	ENSP00000307235.3:p.Ala792Val
ENST00000415570.1:c.2012C>T	ENSP00000412076.1:p.Ala671Val
ENST00000419748.5:c.1922C>T	ENSP00000408325.1:p.Ala641Val
ENST00000470706.1:n.49-31C>T
NM_001313915.1:c.1922C>T	NP_001300844.1:p.Ala641Val
NM_004836.5:c.2375C>T	NP_004827.4:p.Ala792Val
NM_004836.6:c.2375C>T	NP_004827.4:p.Ala792Val
NR_110236.1:n.1245G>A
XM_005264649.3:c.1691C>T	XP_005264706.1:p.Ala564Val
XM_017005376.2:c.1691C>T	XP_016860865.1:p.Ala564Val
NM_004836.7:c.2375C>T MANE Select	NP_004827.4:p.Ala792Val
NM_001313915.2:c.1922C>T	NP_001300844.1:p.Ala641Val