Canonical Allele Identifier: CA51486374

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs933101367
• MyVariant Identifiers: chr2:g.88874681C>T (hg19) ; chr2:g.88575163C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575163C>T , CM000664.2:g.88575163C>T	GRCh38
NC_000002.11:g.88874681C>T , CM000664.1:g.88874681C>T	GRCh37
NC_000002.10:g.88655796C>T	NCBI36
NG_016424.1:g.57414G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2148G>A
ENST00000682276.1:n.1765G>A
ENST00000682892.1:c.1867G>A	ENSP00000507214.1:p.Gly623Arg
ENST00000682952.1:n.1959G>A
ENST00000684455.1:c.1533G>A
ENST00000684642.1:c.1717G>A	ENSP00000507355.1:p.Gly573Arg
ENST00000684740.1:n.2498G>A
ENST00000303236.9:c.2320G>A MANE Select	ENSP00000307235.3:p.Gly774Arg
ENST00000652099.1:c.2514G>A
ENST00000652736.1:n.2196G>A
ENST00000303236.7:c.2320G>A	ENSP00000307235.3:p.Gly774Arg
ENST00000415570.1:c.1957G>A	ENSP00000412076.1:p.Gly653Arg
ENST00000419748.5:c.1867G>A	ENSP00000408325.1:p.Gly623Arg
ENST00000470706.1:n.49-86G>A
NM_001313915.1:c.1867G>A	NP_001300844.1:p.Gly623Arg
NM_004836.5:c.2320G>A	NP_004827.4:p.Gly774Arg
NM_004836.6:c.2320G>A	NP_004827.4:p.Gly774Arg
NR_110236.1:n.1300C>T
XM_005264649.3:c.1636G>A	XP_005264706.1:p.Gly546Arg
XM_017005376.2:c.1636G>A	XP_016860865.1:p.Gly546Arg
NM_004836.7:c.2320G>A MANE Select	NP_004827.4:p.Gly774Arg
NM_001313915.2:c.1867G>A	NP_001300844.1:p.Gly623Arg