Canonical Allele Identifier: CA347592204

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1674425176
• gnomAD v3: 2-88575226-C-T
• gnomAD v4: 2-88575226-C-T
• MyVariant Identifiers: chr2:g.88874744C>T (hg19) ; chr2:g.88575226C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575226C>T , CM000664.2:g.88575226C>T	GRCh38
NC_000002.11:g.88874744C>T , CM000664.1:g.88874744C>T	GRCh37
NC_000002.10:g.88655859C>T	NCBI36
NG_016424.1:g.57351G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2085G>A
ENST00000682276.1:n.1702G>A
ENST00000682892.1:c.1804G>A	ENSP00000507214.1:p.Glu602Lys
ENST00000682952.1:n.1896G>A
ENST00000684455.1:c.1470G>A
ENST00000684642.1:c.1654G>A	ENSP00000507355.1:p.Glu552Lys
ENST00000684740.1:n.2435G>A
ENST00000303236.9:c.2257G>A MANE Select	ENSP00000307235.3:p.Glu753Lys
ENST00000652099.1:c.2451G>A
ENST00000652736.1:n.2133G>A
ENST00000303236.7:c.2257G>A	ENSP00000307235.3:p.Glu753Lys
ENST00000415570.1:c.1894G>A	ENSP00000412076.1:p.Glu632Lys
ENST00000419748.5:c.1804G>A	ENSP00000408325.1:p.Glu602Lys
ENST00000470706.1:n.48+135G>A
NM_001313915.1:c.1804G>A	NP_001300844.1:p.Glu602Lys
NM_004836.5:c.2257G>A	NP_004827.4:p.Glu753Lys
NM_004836.6:c.2257G>A	NP_004827.4:p.Glu753Lys
NR_110236.1:n.1363C>T
XM_005264649.3:c.1573G>A	XP_005264706.1:p.Glu525Lys
XM_017005376.2:c.1573G>A	XP_016860865.1:p.Glu525Lys
NM_004836.7:c.2257G>A MANE Select	NP_004827.4:p.Glu753Lys
NM_001313915.2:c.1804G>A	NP_001300844.1:p.Glu602Lys