Canonical Allele Identifier: CA427445396

Gene: EIF2AK3

Linked Data

• COSMIC: COSM4680534 ; COSM4680535
• MyVariant Identifiers: chr2:g.88874748G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575230G>A , CM000664.2:g.88575230G>A	GRCh38
NC_000002.11:g.88874748G>A , CM000664.1:g.88874748G>A	GRCh37
NC_000002.10:g.88655863G>A	NCBI36
NG_016424.1:g.57347C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2081C>T
ENST00000682276.1:n.1698C>T
ENST00000682892.1:c.1800C>T	ENSP00000507214.1:p.Ile600=
ENST00000682952.1:n.1892C>T
ENST00000684455.1:c.1466C>T
ENST00000684642.1:c.1650C>T	ENSP00000507355.1:p.Ile550=
ENST00000684740.1:n.2431C>T
ENST00000303236.9:c.2253C>T MANE Select	ENSP00000307235.3:p.Ile751=
ENST00000652099.1:c.2447C>T
ENST00000652736.1:n.2129C>T
ENST00000303236.7:c.2253C>T	ENSP00000307235.3:p.Ile751=
ENST00000415570.1:c.1890C>T	ENSP00000412076.1:p.Ile630=
ENST00000419748.5:c.1800C>T	ENSP00000408325.1:p.Ile600=
ENST00000470706.1:n.48+131C>T
NM_001313915.1:c.1800C>T	NP_001300844.1:p.Ile600=
NM_004836.5:c.2253C>T	NP_004827.4:p.Ile751=
NM_004836.6:c.2253C>T	NP_004827.4:p.Ile751=
NR_110236.1:n.1367G>A
XM_005264649.3:c.1569C>T	XP_005264706.1:p.Ile523=
XM_017005376.2:c.1569C>T	XP_016860865.1:p.Ile523=
NM_004836.7:c.2253C>T MANE Select	NP_004827.4:p.Ile751=
NM_001313915.2:c.1800C>T	NP_001300844.1:p.Ile600=