Canonical Allele Identifier: CA347592343

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874771A>T (hg19) ; chr2:g.88575253A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575253A>T , CM000664.2:g.88575253A>T	GRCh38
NC_000002.11:g.88874771A>T , CM000664.1:g.88874771A>T	GRCh37
NC_000002.10:g.88655886A>T	NCBI36
NG_016424.1:g.57324T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2058T>A
ENST00000682276.1:n.1675T>A
ENST00000682892.1:c.1777T>A	ENSP00000507214.1:p.Ser593Thr
ENST00000682952.1:n.1869T>A
ENST00000684455.1:c.1443T>A
ENST00000684642.1:c.1627T>A	ENSP00000507355.1:p.Ser543Thr
ENST00000684740.1:n.2408T>A
ENST00000303236.9:c.2230T>A MANE Select	ENSP00000307235.3:p.Ser744Thr
ENST00000652099.1:c.2424T>A
ENST00000652736.1:n.2106T>A
ENST00000303236.7:c.2230T>A	ENSP00000307235.3:p.Ser744Thr
ENST00000415570.1:c.1867T>A	ENSP00000412076.1:p.Ser623Thr
ENST00000419748.5:c.1777T>A	ENSP00000408325.1:p.Ser593Thr
ENST00000470706.1:n.48+108T>A
NM_001313915.1:c.1777T>A	NP_001300844.1:p.Ser593Thr
NM_004836.5:c.2230T>A	NP_004827.4:p.Ser744Thr
NM_004836.6:c.2230T>A	NP_004827.4:p.Ser744Thr
NR_110236.1:n.1390A>T
XM_005264649.3:c.1546T>A	XP_005264706.1:p.Ser516Thr
XM_017005376.2:c.1546T>A	XP_016860865.1:p.Ser516Thr
NM_004836.7:c.2230T>A MANE Select	NP_004827.4:p.Ser744Thr
NM_001313915.2:c.1777T>A	NP_001300844.1:p.Ser593Thr