Canonical Allele Identifier: CA427445503

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874799A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575281A>T , CM000664.2:g.88575281A>T	GRCh38
NC_000002.11:g.88874799A>T , CM000664.1:g.88874799A>T	GRCh37
NC_000002.10:g.88655914A>T	NCBI36
NG_016424.1:g.57296T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000478003.2:n.2030T>A
ENST00000682276.1:n.1647T>A
ENST00000682892.1:c.1749T>A	ENSP00000507214.1:p.Ser583=
ENST00000682952.1:n.1841T>A
ENST00000684455.1:c.1415T>A
ENST00000684642.1:c.1599T>A	ENSP00000507355.1:p.Ser533=
ENST00000684740.1:n.2380T>A
ENST00000303236.9:c.2202T>A MANE Select	ENSP00000307235.3:p.Ser734=
ENST00000652099.1:c.2396T>A
ENST00000652736.1:n.2078T>A
ENST00000303236.7:c.2202T>A	ENSP00000307235.3:p.Ser734=
ENST00000415570.1:c.1839T>A	ENSP00000412076.1:p.Ser613=
ENST00000419748.5:c.1749T>A	ENSP00000408325.1:p.Ser583=
ENST00000470706.1:n.48+80T>A
NM_001313915.1:c.1749T>A	NP_001300844.1:p.Ser583=
NM_004836.5:c.2202T>A	NP_004827.4:p.Ser734=
NM_004836.6:c.2202T>A	NP_004827.4:p.Ser734=
NR_110236.1:n.1418A>T
XM_005264649.3:c.1518T>A	XP_005264706.1:p.Ser506=
XR_939749.1:n.2481T>A
XM_017005376.2:c.1518T>A	XP_016860865.1:p.Ser506=
NM_004836.7:c.2202T>A MANE Select	NP_004827.4:p.Ser734=
NM_001313915.2:c.1749T>A	NP_001300844.1:p.Ser583=