Canonical Allele Identifier: CA347592481

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874801A>T (hg19) ; chr2:g.88575283A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575283A>T , CM000664.2:g.88575283A>T	GRCh38
NC_000002.11:g.88874801A>T , CM000664.1:g.88874801A>T	GRCh37
NC_000002.10:g.88655916A>T	NCBI36
NG_016424.1:g.57294T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478003.2:n.2028T>A
ENST00000682276.1:n.1645T>A
ENST00000682892.1:c.1747T>A	ENSP00000507214.1:p.Ser583Thr
ENST00000682952.1:n.1839T>A
ENST00000684455.1:c.1413T>A
ENST00000684642.1:c.1597T>A	ENSP00000507355.1:p.Ser533Thr
ENST00000684740.1:n.2378T>A
ENST00000303236.9:c.2200T>A MANE Select	ENSP00000307235.3:p.Ser734Thr
ENST00000652099.1:c.2394T>A
ENST00000652736.1:n.2076T>A
ENST00000303236.7:c.2200T>A	ENSP00000307235.3:p.Ser734Thr
ENST00000415570.1:c.1837T>A	ENSP00000412076.1:p.Ser613Thr
ENST00000419748.5:c.1747T>A	ENSP00000408325.1:p.Ser583Thr
ENST00000470706.1:n.48+78T>A
NM_001313915.1:c.1747T>A	NP_001300844.1:p.Ser583Thr
NM_004836.5:c.2200T>A	NP_004827.4:p.Ser734Thr
NM_004836.6:c.2200T>A	NP_004827.4:p.Ser734Thr
NR_110236.1:n.1420A>T
XM_005264649.3:c.1516T>A	XP_005264706.1:p.Ser506Thr
XR_939749.1:n.2479T>A
XM_017005376.2:c.1516T>A	XP_016860865.1:p.Ser506Thr
NM_004836.7:c.2200T>A MANE Select	NP_004827.4:p.Ser734Thr
NM_001313915.2:c.1747T>A	NP_001300844.1:p.Ser583Thr