Canonical Allele Identifier: CA347592415

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874789A>C (hg19) ; chr2:g.88575271A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575271A>C , CM000664.2:g.88575271A>C	GRCh38
NC_000002.11:g.88874789A>C , CM000664.1:g.88874789A>C	GRCh37
NC_000002.10:g.88655904A>C	NCBI36
NG_016424.1:g.57306T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2040T>G
ENST00000682276.1:n.1657T>G
ENST00000682892.1:c.1759T>G	ENSP00000507214.1:p.Phe587Val
ENST00000682952.1:n.1851T>G
ENST00000684455.1:c.1425T>G
ENST00000684642.1:c.1609T>G	ENSP00000507355.1:p.Phe537Val
ENST00000684740.1:n.2390T>G
ENST00000303236.9:c.2212T>G MANE Select	ENSP00000307235.3:p.Phe738Val
ENST00000652099.1:c.2406T>G
ENST00000652736.1:n.2088T>G
ENST00000303236.7:c.2212T>G	ENSP00000307235.3:p.Phe738Val
ENST00000415570.1:c.1849T>G	ENSP00000412076.1:p.Phe617Val
ENST00000419748.5:c.1759T>G	ENSP00000408325.1:p.Phe587Val
ENST00000470706.1:n.48+90T>G
NM_001313915.1:c.1759T>G	NP_001300844.1:p.Phe587Val
NM_004836.5:c.2212T>G	NP_004827.4:p.Phe738Val
NM_004836.6:c.2212T>G	NP_004827.4:p.Phe738Val
NR_110236.1:n.1408A>C
XM_005264649.3:c.1528T>G	XP_005264706.1:p.Phe510Val
XR_939749.1:n.2491T>G
XM_017005376.2:c.1528T>G	XP_016860865.1:p.Phe510Val
NM_004836.7:c.2212T>G MANE Select	NP_004827.4:p.Phe738Val
NM_001313915.2:c.1759T>G	NP_001300844.1:p.Phe587Val