Canonical Allele Identifier: CA347592295

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874760G>T (hg19) ; chr2:g.88575242G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575242G>T , CM000664.2:g.88575242G>T	GRCh38
NC_000002.11:g.88874760G>T , CM000664.1:g.88874760G>T	GRCh37
NC_000002.10:g.88655875G>T	NCBI36
NG_016424.1:g.57335C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2069C>A
ENST00000682276.1:n.1686C>A
ENST00000682892.1:c.1788C>A	ENSP00000507214.1:p.Asp596Glu
ENST00000682952.1:n.1880C>A
ENST00000684455.1:c.1454C>A
ENST00000684642.1:c.1638C>A	ENSP00000507355.1:p.Asp546Glu
ENST00000684740.1:n.2419C>A
ENST00000303236.9:c.2241C>A MANE Select	ENSP00000307235.3:p.Asp747Glu
ENST00000652099.1:c.2435C>A
ENST00000652736.1:n.2117C>A
ENST00000303236.7:c.2241C>A	ENSP00000307235.3:p.Asp747Glu
ENST00000415570.1:c.1878C>A	ENSP00000412076.1:p.Asp626Glu
ENST00000419748.5:c.1788C>A	ENSP00000408325.1:p.Asp596Glu
ENST00000470706.1:n.48+119C>A
NM_001313915.1:c.1788C>A	NP_001300844.1:p.Asp596Glu
NM_004836.5:c.2241C>A	NP_004827.4:p.Asp747Glu
NM_004836.6:c.2241C>A	NP_004827.4:p.Asp747Glu
NR_110236.1:n.1379G>T
XM_005264649.3:c.1557C>A	XP_005264706.1:p.Asp519Glu
XM_017005376.2:c.1557C>A	XP_016860865.1:p.Asp519Glu
NM_004836.7:c.2241C>A MANE Select	NP_004827.4:p.Asp747Glu
NM_001313915.2:c.1788C>A	NP_001300844.1:p.Asp596Glu