Canonical Allele Identifier: CA347592468

Gene: EIF2AK3

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000478003.2:n.2031G>C
ENST00000682276.1:n.1648G>C
ENST00000682892.1:c.1750G>C	ENSP00000507214.1:p.Glu584Gln
ENST00000682952.1:n.1842G>C
ENST00000684455.1:c.1416G>C
ENST00000684642.1:c.1600G>C	ENSP00000507355.1:p.Glu534Gln
ENST00000684740.1:n.2381G>C
ENST00000303236.9:c.2203G>C MANE Select	ENSP00000307235.3:p.Glu735Gln
ENST00000652099.1:c.2397G>C
ENST00000652736.1:n.2079G>C
ENST00000303236.7:c.2203G>C	ENSP00000307235.3:p.Glu735Gln
ENST00000415570.1:c.1840G>C	ENSP00000412076.1:p.Glu614Gln
ENST00000419748.5:c.1750G>C	ENSP00000408325.1:p.Glu584Gln
ENST00000470706.1:n.48+81G>C
NM_001313915.1:c.1750G>C	NP_001300844.1:p.Glu584Gln
NM_004836.5:c.2203G>C	NP_004827.4:p.Glu735Gln
NM_004836.6:c.2203G>C	NP_004827.4:p.Glu735Gln
NR_110236.1:n.1417C>G
XM_005264649.3:c.1519G>C	XP_005264706.1:p.Glu507Gln
XR_939749.1:n.2482G>C
XM_017005376.2:c.1519G>C	XP_016860865.1:p.Glu507Gln
NM_004836.7:c.2203G>C MANE Select	NP_004827.4:p.Glu735Gln
NM_001313915.2:c.1750G>C	NP_001300844.1:p.Glu584Gln