Canonical Allele Identifier: CA347591315

Gene: EIF2AK3

Linked Data

• MyVariant Identifiers: chr2:g.88874546T>G (hg19) ; chr2:g.88575028T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575028T>G , CM000664.2:g.88575028T>G	GRCh38
NC_000002.11:g.88874546T>G , CM000664.1:g.88874546T>G	GRCh37
NC_000002.10:g.88655661T>G	NCBI36
NG_016424.1:g.57549A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2283A>C
ENST00000682276.1:n.1900A>C
ENST00000682892.1:c.2002A>C	ENSP00000507214.1:p.Lys668Gln
ENST00000682952.1:n.2094A>C
ENST00000684455.1:c.1668A>C
ENST00000684642.1:c.1852A>C	ENSP00000507355.1:p.Lys618Gln
ENST00000684740.1:n.2633A>C
ENST00000303236.9:c.2455A>C MANE Select	ENSP00000307235.3:p.Lys819Gln
ENST00000652099.1:c.2649A>C
ENST00000652736.1:n.2331A>C
ENST00000303236.7:c.2455A>C	ENSP00000307235.3:p.Lys819Gln
ENST00000415570.1:c.2092A>C	ENSP00000412076.1:p.Lys698Gln
ENST00000419748.5:c.2002A>C	ENSP00000408325.1:p.Lys668Gln
ENST00000470706.1:n.98A>C
NM_001313915.1:c.2002A>C	NP_001300844.1:p.Lys668Gln
NM_004836.5:c.2455A>C	NP_004827.4:p.Lys819Gln
NM_004836.6:c.2455A>C	NP_004827.4:p.Lys819Gln
NR_110236.1:n.1165T>G
XM_005264649.3:c.1771A>C	XP_005264706.1:p.Lys591Gln
XM_017005376.2:c.1771A>C	XP_016860865.1:p.Lys591Gln
NM_004836.7:c.2455A>C MANE Select	NP_004827.4:p.Lys819Gln
NM_001313915.2:c.2002A>C	NP_001300844.1:p.Lys668Gln