Canonical Allele Identifier: CA347591812

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1420157803
• gnomAD v2: 2-88874656-C-T
• gnomAD v4: 2-88575138-C-T
• MyVariant Identifiers: chr2:g.88874656C>T (hg19) ; chr2:g.88575138C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575138C>T , CM000664.2:g.88575138C>T	GRCh38
NC_000002.11:g.88874656C>T , CM000664.1:g.88874656C>T	GRCh37
NC_000002.10:g.88655771C>T	NCBI36
NG_016424.1:g.57439G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2173G>A
ENST00000682276.1:n.1790G>A
ENST00000682892.1:c.1892G>A	ENSP00000507214.1:p.Gly631Glu
ENST00000682952.1:n.1984G>A
ENST00000684455.1:c.1558G>A
ENST00000684642.1:c.1742G>A	ENSP00000507355.1:p.Gly581Glu
ENST00000684740.1:n.2523G>A
ENST00000303236.9:c.2345G>A MANE Select	ENSP00000307235.3:p.Gly782Glu
ENST00000652099.1:c.2539G>A
ENST00000652736.1:n.2221G>A
ENST00000303236.7:c.2345G>A	ENSP00000307235.3:p.Gly782Glu
ENST00000415570.1:c.1982G>A	ENSP00000412076.1:p.Gly661Glu
ENST00000419748.5:c.1892G>A	ENSP00000408325.1:p.Gly631Glu
ENST00000470706.1:n.49-61G>A
NM_001313915.1:c.1892G>A	NP_001300844.1:p.Gly631Glu
NM_004836.5:c.2345G>A	NP_004827.4:p.Gly782Glu
NM_004836.6:c.2345G>A	NP_004827.4:p.Gly782Glu
NR_110236.1:n.1275C>T
XM_005264649.3:c.1661G>A	XP_005264706.1:p.Gly554Glu
XM_017005376.2:c.1661G>A	XP_016860865.1:p.Gly554Glu
NM_004836.7:c.2345G>A MANE Select	NP_004827.4:p.Gly782Glu
NM_001313915.2:c.1892G>A	NP_001300844.1:p.Gly631Glu