Canonical Allele Identifier: CA347592550

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874817A>C (hg19) ; chr2:g.88575299A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575299A>C , CM000664.2:g.88575299A>C	GRCh38
NC_000002.11:g.88874817A>C , CM000664.1:g.88874817A>C	GRCh37
NC_000002.10:g.88655932A>C	NCBI36
NG_016424.1:g.57278T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2012T>G
ENST00000682276.1:n.1629T>G
ENST00000682892.1:c.1731T>G	ENSP00000507214.1:p.Cys577Trp
ENST00000682952.1:n.1823T>G
ENST00000684455.1:c.1397T>G
ENST00000684642.1:c.1581T>G	ENSP00000507355.1:p.Cys527Trp
ENST00000684740.1:n.2362T>G
ENST00000303236.9:c.2184T>G MANE Select	ENSP00000307235.3:p.Cys728Trp
ENST00000652099.1:c.2378T>G
ENST00000652736.1:n.2060T>G
ENST00000303236.7:c.2184T>G	ENSP00000307235.3:p.Cys728Trp
ENST00000415570.1:c.1821T>G	ENSP00000412076.1:p.Cys607Trp
ENST00000419748.5:c.1731T>G	ENSP00000408325.1:p.Cys577Trp
ENST00000470706.1:n.48+62T>G
NM_001313915.1:c.1731T>G	NP_001300844.1:p.Cys577Trp
NM_004836.5:c.2184T>G	NP_004827.4:p.Cys728Trp
NM_004836.6:c.2184T>G	NP_004827.4:p.Cys728Trp
NR_110236.1:n.1436A>C
XM_005264649.3:c.1500T>G	XP_005264706.1:p.Cys500Trp
XR_939749.1:n.2463T>G
XM_017005376.2:c.1500T>G	XP_016860865.1:p.Cys500Trp
NM_004836.7:c.2184T>G MANE Select	NP_004827.4:p.Cys728Trp
NM_001313915.2:c.1731T>G	NP_001300844.1:p.Cys577Trp