Canonical Allele Identifier: CA347592557

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874818C>T (hg19) ; chr2:g.88575300C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575300C>T , CM000664.2:g.88575300C>T	GRCh38
NC_000002.11:g.88874818C>T , CM000664.1:g.88874818C>T	GRCh37
NC_000002.10:g.88655933C>T	NCBI36
NG_016424.1:g.57277G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2011G>A
ENST00000682276.1:n.1628G>A
ENST00000682892.1:c.1730G>A	ENSP00000507214.1:p.Cys577Tyr
ENST00000682952.1:n.1822G>A
ENST00000684455.1:c.1396G>A
ENST00000684642.1:c.1580G>A	ENSP00000507355.1:p.Cys527Tyr
ENST00000684740.1:n.2361G>A
ENST00000303236.9:c.2183G>A MANE Select	ENSP00000307235.3:p.Cys728Tyr
ENST00000652099.1:c.2377G>A
ENST00000652736.1:n.2059G>A
ENST00000303236.7:c.2183G>A	ENSP00000307235.3:p.Cys728Tyr
ENST00000415570.1:c.1820G>A	ENSP00000412076.1:p.Cys607Tyr
ENST00000419748.5:c.1730G>A	ENSP00000408325.1:p.Cys577Tyr
ENST00000470706.1:n.48+61G>A
NM_001313915.1:c.1730G>A	NP_001300844.1:p.Cys577Tyr
NM_004836.5:c.2183G>A	NP_004827.4:p.Cys728Tyr
NM_004836.6:c.2183G>A	NP_004827.4:p.Cys728Tyr
NR_110236.1:n.1437C>T
XM_005264649.3:c.1499G>A	XP_005264706.1:p.Cys500Tyr
XR_939749.1:n.2462G>A
XM_017005376.2:c.1499G>A	XP_016860865.1:p.Cys500Tyr
NM_004836.7:c.2183G>A MANE Select	NP_004827.4:p.Cys728Tyr
NM_001313915.2:c.1730G>A	NP_001300844.1:p.Cys577Tyr