Canonical Allele Identifier: CA1754481

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 2716245
• ClinVar RCV Id: RCV003546113
• dbSNP Id: rs750231254
• ExAC: 2:88874775 T / C
• gnomAD v2: 2-88874775-T-C
• gnomAD v3: 2-88575257-T-C
• gnomAD v4: 2-88575257-T-C
• MyVariant Identifiers: chr2:g.88874775T>C (hg19) ; chr2:g.88575257T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575257T>C , CM000664.2:g.88575257T>C	GRCh38
NC_000002.11:g.88874775T>C , CM000664.1:g.88874775T>C	GRCh37
NC_000002.10:g.88655890T>C	NCBI36
NG_016424.1:g.57320A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2054A>G
ENST00000682276.1:n.1671A>G
ENST00000682892.1:c.1773A>G	ENSP00000507214.1:p.Glu591=
ENST00000682952.1:n.1865A>G
ENST00000684455.1:c.1439A>G
ENST00000684642.1:c.1623A>G	ENSP00000507355.1:p.Glu541=
ENST00000684740.1:n.2404A>G
ENST00000303236.9:c.2226A>G MANE Select	ENSP00000307235.3:p.Glu742=
ENST00000652099.1:c.2420A>G
ENST00000652736.1:n.2102A>G
ENST00000303236.7:c.2226A>G	ENSP00000307235.3:p.Glu742=
ENST00000415570.1:c.1863A>G	ENSP00000412076.1:p.Glu621=
ENST00000419748.5:c.1773A>G	ENSP00000408325.1:p.Glu591=
ENST00000470706.1:n.48+104A>G
NM_001313915.1:c.1773A>G	NP_001300844.1:p.Glu591=
NM_004836.5:c.2226A>G	NP_004827.4:p.Glu742=
NM_004836.6:c.2226A>G	NP_004827.4:p.Glu742=
NR_110236.1:n.1394T>C
XM_005264649.3:c.1542A>G	XP_005264706.1:p.Glu514=
XM_017005376.2:c.1542A>G	XP_016860865.1:p.Glu514=
NM_004836.7:c.2226A>G MANE Select	NP_004827.4:p.Glu742=
NM_001313915.2:c.1773A>G	NP_001300844.1:p.Glu591=