Canonical Allele Identifier: CA347591809

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874656C>A (hg19) ; chr2:g.88575138C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2173G>T
ENST00000682276.1:n.1790G>T
ENST00000682892.1:c.1892G>T	ENSP00000507214.1:p.Gly631Val
ENST00000682952.1:n.1984G>T
ENST00000684455.1:c.1558G>T
ENST00000684642.1:c.1742G>T	ENSP00000507355.1:p.Gly581Val
ENST00000684740.1:n.2523G>T
ENST00000303236.9:c.2345G>T MANE Select	ENSP00000307235.3:p.Gly782Val
ENST00000652099.1:c.2539G>T
ENST00000652736.1:n.2221G>T
ENST00000303236.7:c.2345G>T	ENSP00000307235.3:p.Gly782Val
ENST00000415570.1:c.1982G>T	ENSP00000412076.1:p.Gly661Val
ENST00000419748.5:c.1892G>T	ENSP00000408325.1:p.Gly631Val
ENST00000470706.1:n.49-61G>T
NM_001313915.1:c.1892G>T	NP_001300844.1:p.Gly631Val
NM_004836.5:c.2345G>T	NP_004827.4:p.Gly782Val
NM_004836.6:c.2345G>T	NP_004827.4:p.Gly782Val
NR_110236.1:n.1275C>A
XM_005264649.3:c.1661G>T	XP_005264706.1:p.Gly554Val
XM_017005376.2:c.1661G>T	XP_016860865.1:p.Gly554Val
NM_004836.7:c.2345G>T MANE Select	NP_004827.4:p.Gly782Val
NM_001313915.2:c.1892G>T	NP_001300844.1:p.Gly631Val