Canonical Allele Identifier: CA347591829

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874659T>C (hg19) ; chr2:g.88575141T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575141T>C , CM000664.2:g.88575141T>C	GRCh38
NC_000002.11:g.88874659T>C , CM000664.1:g.88874659T>C	GRCh37
NC_000002.10:g.88655774T>C	NCBI36
NG_016424.1:g.57436A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2170A>G
ENST00000682276.1:n.1787A>G
ENST00000682892.1:c.1889A>G	ENSP00000507214.1:p.Glu630Gly
ENST00000682952.1:n.1981A>G
ENST00000684455.1:c.1555A>G
ENST00000684642.1:c.1739A>G	ENSP00000507355.1:p.Glu580Gly
ENST00000684740.1:n.2520A>G
ENST00000303236.9:c.2342A>G MANE Select	ENSP00000307235.3:p.Glu781Gly
ENST00000652099.1:c.2536A>G
ENST00000652736.1:n.2218A>G
ENST00000303236.7:c.2342A>G	ENSP00000307235.3:p.Glu781Gly
ENST00000415570.1:c.1979A>G	ENSP00000412076.1:p.Glu660Gly
ENST00000419748.5:c.1889A>G	ENSP00000408325.1:p.Glu630Gly
ENST00000470706.1:n.49-64A>G
NM_001313915.1:c.1889A>G	NP_001300844.1:p.Glu630Gly
NM_004836.5:c.2342A>G	NP_004827.4:p.Glu781Gly
NM_004836.6:c.2342A>G	NP_004827.4:p.Glu781Gly
NR_110236.1:n.1278T>C
XM_005264649.3:c.1658A>G	XP_005264706.1:p.Glu553Gly
XM_017005376.2:c.1658A>G	XP_016860865.1:p.Glu553Gly
NM_004836.7:c.2342A>G MANE Select	NP_004827.4:p.Glu781Gly
NM_001313915.2:c.1889A>G	NP_001300844.1:p.Glu630Gly