Canonical Allele Identifier: CA347591312

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874545T>C (hg19) ; chr2:g.88575027T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575027T>C , CM000664.2:g.88575027T>C	GRCh38
NC_000002.11:g.88874545T>C , CM000664.1:g.88874545T>C	GRCh37
NC_000002.10:g.88655660T>C	NCBI36
NG_016424.1:g.57550A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2284A>G
ENST00000682276.1:n.1901A>G
ENST00000682892.1:c.2003A>G	ENSP00000507214.1:p.Lys668Arg
ENST00000682952.1:n.2095A>G
ENST00000684455.1:c.1669A>G
ENST00000684642.1:c.1853A>G	ENSP00000507355.1:p.Lys618Arg
ENST00000684740.1:n.2634A>G
ENST00000303236.9:c.2456A>G MANE Select	ENSP00000307235.3:p.Lys819Arg
ENST00000652099.1:c.2650A>G
ENST00000652736.1:n.2332A>G
ENST00000303236.7:c.2456A>G	ENSP00000307235.3:p.Lys819Arg
ENST00000415570.1:c.2093A>G	ENSP00000412076.1:p.Lys698Arg
ENST00000419748.5:c.2003A>G	ENSP00000408325.1:p.Lys668Arg
ENST00000470706.1:n.99A>G
NM_001313915.1:c.2003A>G	NP_001300844.1:p.Lys668Arg
NM_004836.5:c.2456A>G	NP_004827.4:p.Lys819Arg
NM_004836.6:c.2456A>G	NP_004827.4:p.Lys819Arg
NR_110236.1:n.1164T>C
XM_005264649.3:c.1772A>G	XP_005264706.1:p.Lys591Arg
XM_017005376.2:c.1772A>G	XP_016860865.1:p.Lys591Arg
NM_004836.7:c.2456A>G MANE Select	NP_004827.4:p.Lys819Arg
NM_001313915.2:c.2003A>G	NP_001300844.1:p.Lys668Arg