Canonical Allele Identifier: CA347592196

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874743T>C (hg19) ; chr2:g.88575225T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575225T>C , CM000664.2:g.88575225T>C	GRCh38
NC_000002.11:g.88874743T>C , CM000664.1:g.88874743T>C	GRCh37
NC_000002.10:g.88655858T>C	NCBI36
NG_016424.1:g.57352A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2086A>G
ENST00000682276.1:n.1703A>G
ENST00000682892.1:c.1805A>G	ENSP00000507214.1:p.Glu602Gly
ENST00000682952.1:n.1897A>G
ENST00000684455.1:c.1471A>G
ENST00000684642.1:c.1655A>G	ENSP00000507355.1:p.Glu552Gly
ENST00000684740.1:n.2436A>G
ENST00000303236.9:c.2258A>G MANE Select	ENSP00000307235.3:p.Glu753Gly
ENST00000652099.1:c.2452A>G
ENST00000652736.1:n.2134A>G
ENST00000303236.7:c.2258A>G	ENSP00000307235.3:p.Glu753Gly
ENST00000415570.1:c.1895A>G	ENSP00000412076.1:p.Glu632Gly
ENST00000419748.5:c.1805A>G	ENSP00000408325.1:p.Glu602Gly
ENST00000470706.1:n.48+136A>G
NM_001313915.1:c.1805A>G	NP_001300844.1:p.Glu602Gly
NM_004836.5:c.2258A>G	NP_004827.4:p.Glu753Gly
NM_004836.6:c.2258A>G	NP_004827.4:p.Glu753Gly
NR_110236.1:n.1362T>C
XM_005264649.3:c.1574A>G	XP_005264706.1:p.Glu525Gly
XM_017005376.2:c.1574A>G	XP_016860865.1:p.Glu525Gly
NM_004836.7:c.2258A>G MANE Select	NP_004827.4:p.Glu753Gly
NM_001313915.2:c.1805A>G	NP_001300844.1:p.Glu602Gly