Canonical Allele Identifier: CA347592562

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874819A>T (hg19) ; chr2:g.88575301A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575301A>T , CM000664.2:g.88575301A>T	GRCh38
NC_000002.11:g.88874819A>T , CM000664.1:g.88874819A>T	GRCh37
NC_000002.10:g.88655934A>T	NCBI36
NG_016424.1:g.57276T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2010T>A
ENST00000682276.1:n.1627T>A
ENST00000682892.1:c.1729T>A	ENSP00000507214.1:p.Cys577Ser
ENST00000682952.1:n.1821T>A
ENST00000684455.1:c.1395T>A
ENST00000684642.1:c.1579T>A	ENSP00000507355.1:p.Cys527Ser
ENST00000684740.1:n.2360T>A
ENST00000303236.9:c.2182T>A MANE Select	ENSP00000307235.3:p.Cys728Ser
ENST00000652099.1:c.2376T>A
ENST00000652736.1:n.2058T>A
ENST00000303236.7:c.2182T>A	ENSP00000307235.3:p.Cys728Ser
ENST00000415570.1:c.1819T>A	ENSP00000412076.1:p.Cys607Ser
ENST00000419748.5:c.1729T>A	ENSP00000408325.1:p.Cys577Ser
ENST00000470706.1:n.48+60T>A
NM_001313915.1:c.1729T>A	NP_001300844.1:p.Cys577Ser
NM_004836.5:c.2182T>A	NP_004827.4:p.Cys728Ser
NM_004836.6:c.2182T>A	NP_004827.4:p.Cys728Ser
NR_110236.1:n.1438A>T
XM_005264649.3:c.1498T>A	XP_005264706.1:p.Cys500Ser
XR_939749.1:n.2461T>A
XM_017005376.2:c.1498T>A	XP_016860865.1:p.Cys500Ser
NM_004836.7:c.2182T>A MANE Select	NP_004827.4:p.Cys728Ser
NM_001313915.2:c.1729T>A	NP_001300844.1:p.Cys577Ser