Canonical Allele Identifier: CA427445385

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 2712392
• ClinVar RCV Id: RCV003547953
• MyVariant Identifiers: chr2:g.88874529A>C (hg19)

Genomic Alleles

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

Transcript Alleles

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