Canonical Allele Identifier: CA347591373

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1270797792
• MyVariant Identifiers: chr2:g.88874559A>T (hg19) ; chr2:g.88575041A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575041A>T , CM000664.2:g.88575041A>T	GRCh38
NC_000002.11:g.88874559A>T , CM000664.1:g.88874559A>T	GRCh37
NC_000002.10:g.88655674A>T	NCBI36
NG_016424.1:g.57536T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2270T>A
ENST00000682276.1:n.1887T>A
ENST00000682892.1:c.1989T>A	ENSP00000507214.1:p.Asp663Glu
ENST00000682952.1:n.2081T>A
ENST00000684455.1:c.1655T>A
ENST00000684642.1:c.1839T>A	ENSP00000507355.1:p.Asp613Glu
ENST00000684740.1:n.2620T>A
ENST00000303236.9:c.2442T>A MANE Select	ENSP00000307235.3:p.Asp814Glu
ENST00000652099.1:c.2636T>A
ENST00000652736.1:n.2318T>A
ENST00000303236.7:c.2442T>A	ENSP00000307235.3:p.Asp814Glu
ENST00000415570.1:c.2079T>A	ENSP00000412076.1:p.Asp693Glu
ENST00000419748.5:c.1989T>A	ENSP00000408325.1:p.Asp663Glu
ENST00000470706.1:n.85T>A
NM_001313915.1:c.1989T>A	NP_001300844.1:p.Asp663Glu
NM_004836.5:c.2442T>A	NP_004827.4:p.Asp814Glu
NM_004836.6:c.2442T>A	NP_004827.4:p.Asp814Glu
NR_110236.1:n.1178A>T
XM_005264649.3:c.1758T>A	XP_005264706.1:p.Asp586Glu
XM_017005376.2:c.1758T>A	XP_016860865.1:p.Asp586Glu
NM_004836.7:c.2442T>A MANE Select	NP_004827.4:p.Asp814Glu
NM_001313915.2:c.1989T>A	NP_001300844.1:p.Asp663Glu