Canonical Allele Identifier: CA347592303

Gene: EIF2AK3

Linked Data

• COSMIC: COSM383978
• MyVariant Identifiers: chr2:g.88874762C>A (hg19) ; chr2:g.88575244C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575244C>A , CM000664.2:g.88575244C>A	GRCh38
NC_000002.11:g.88874762C>A , CM000664.1:g.88874762C>A	GRCh37
NC_000002.10:g.88655877C>A	NCBI36
NG_016424.1:g.57333G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2067G>T
ENST00000682276.1:n.1684G>T
ENST00000682892.1:c.1786G>T	ENSP00000507214.1:p.Asp596Tyr
ENST00000682952.1:n.1878G>T
ENST00000684455.1:c.1452G>T
ENST00000684642.1:c.1636G>T	ENSP00000507355.1:p.Asp546Tyr
ENST00000684740.1:n.2417G>T
ENST00000303236.9:c.2239G>T MANE Select	ENSP00000307235.3:p.Asp747Tyr
ENST00000652099.1:c.2433G>T
ENST00000652736.1:n.2115G>T
ENST00000303236.7:c.2239G>T	ENSP00000307235.3:p.Asp747Tyr
ENST00000415570.1:c.1876G>T	ENSP00000412076.1:p.Asp626Tyr
ENST00000419748.5:c.1786G>T	ENSP00000408325.1:p.Asp596Tyr
ENST00000470706.1:n.48+117G>T
NM_001313915.1:c.1786G>T	NP_001300844.1:p.Asp596Tyr
NM_004836.5:c.2239G>T	NP_004827.4:p.Asp747Tyr
NM_004836.6:c.2239G>T	NP_004827.4:p.Asp747Tyr
NR_110236.1:n.1381C>A
XM_005264649.3:c.1555G>T	XP_005264706.1:p.Asp519Tyr
XM_017005376.2:c.1555G>T	XP_016860865.1:p.Asp519Tyr
NM_004836.7:c.2239G>T MANE Select	NP_004827.4:p.Asp747Tyr
NM_001313915.2:c.1786G>T	NP_001300844.1:p.Asp596Tyr