Canonical Allele Identifier: CA427445383

Gene: EIF2AK3

Linked Data

• COSMIC: COSM4096193 ; COSM4096194
• MyVariant Identifiers: chr2:g.88874529A>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575011A>G , CM000664.2:g.88575011A>G	GRCh38
NC_000002.11:g.88874529A>G , CM000664.1:g.88874529A>G	GRCh37
NC_000002.10:g.88655644A>G	NCBI36
NG_016424.1:g.57566T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2300T>C
ENST00000682103.1:c.13T>C
ENST00000682276.1:n.1917T>C
ENST00000682892.1:c.2019T>C	ENSP00000507214.1:p.Thr673=
ENST00000682952.1:n.2111T>C
ENST00000684455.1:c.1685T>C
ENST00000684642.1:c.1869T>C	ENSP00000507355.1:p.Thr623=
ENST00000684740.1:n.2650T>C
ENST00000303236.9:c.2472T>C MANE Select	ENSP00000307235.3:p.Thr824=
ENST00000652099.1:c.2666T>C
ENST00000652736.1:n.2348T>C
ENST00000303236.7:c.2472T>C	ENSP00000307235.3:p.Thr824=
ENST00000415570.1:c.2109T>C	ENSP00000412076.1:p.Thr703=
ENST00000419748.5:c.2019T>C	ENSP00000408325.1:p.Thr673=
ENST00000470706.1:n.115T>C
NM_001313915.1:c.2019T>C	NP_001300844.1:p.Thr673=
NM_004836.5:c.2472T>C	NP_004827.4:p.Thr824=
NM_004836.6:c.2472T>C	NP_004827.4:p.Thr824=
NR_110236.1:n.1148A>G
XM_005264649.3:c.1788T>C	XP_005264706.1:p.Thr596=
XM_017005376.2:c.1788T>C	XP_016860865.1:p.Thr596=
NM_004836.7:c.2472T>C MANE Select	NP_004827.4:p.Thr824=
NM_001313915.2:c.2019T>C	NP_001300844.1:p.Thr673=