Canonical Allele Identifier: CA347592465

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874798C>A (hg19) ; chr2:g.88575280C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575280C>A , CM000664.2:g.88575280C>A	GRCh38
NC_000002.11:g.88874798C>A , CM000664.1:g.88874798C>A	GRCh37
NC_000002.10:g.88655913C>A	NCBI36
NG_016424.1:g.57297G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478003.2:n.2031G>T
ENST00000682276.1:n.1648G>T
ENST00000682892.1:c.1750G>T	ENSP00000507214.1:p.Glu584Ter
ENST00000682952.1:n.1842G>T
ENST00000684455.1:c.1416G>T
ENST00000684642.1:c.1600G>T	ENSP00000507355.1:p.Glu534Ter
ENST00000684740.1:n.2381G>T
ENST00000303236.9:c.2203G>T MANE Select	ENSP00000307235.3:p.Glu735Ter
ENST00000652099.1:c.2397G>T
ENST00000652736.1:n.2079G>T
ENST00000303236.7:c.2203G>T	ENSP00000307235.3:p.Glu735Ter
ENST00000415570.1:c.1840G>T	ENSP00000412076.1:p.Glu614Ter
ENST00000419748.5:c.1750G>T	ENSP00000408325.1:p.Glu584Ter
ENST00000470706.1:n.48+81G>T
NM_001313915.1:c.1750G>T	NP_001300844.1:p.Glu584Ter
NM_004836.5:c.2203G>T	NP_004827.4:p.Glu735Ter
NM_004836.6:c.2203G>T	NP_004827.4:p.Glu735Ter
NR_110236.1:n.1417C>A
XM_005264649.3:c.1519G>T	XP_005264706.1:p.Glu507Ter
XR_939749.1:n.2482G>T
XM_017005376.2:c.1519G>T	XP_016860865.1:p.Glu507Ter
NM_004836.7:c.2203G>T MANE Select	NP_004827.4:p.Glu735Ter
NM_001313915.2:c.1750G>T	NP_001300844.1:p.Glu584Ter