Canonical Allele Identifier: CA347592945

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1674432562
• gnomAD v3: 2-88575397-T-C
• gnomAD v4: 2-88575397-T-C
• MyVariant Identifiers: chr2:g.88874915T>C (hg19) ; chr2:g.88575397T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575397T>C , CM000664.2:g.88575397T>C	GRCh38
NC_000002.11:g.88874915T>C , CM000664.1:g.88874915T>C	GRCh37
NC_000002.10:g.88656030T>C	NCBI36
NG_016424.1:g.57180A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1914A>G
ENST00000682276.1:n.1531A>G
ENST00000682892.1:c.1633A>G	ENSP00000507214.1:p.Lys545Glu
ENST00000682952.1:n.1725A>G
ENST00000684455.1:c.1299A>G
ENST00000684642.1:c.1483A>G	ENSP00000507355.1:p.Lys495Glu
ENST00000684740.1:n.2264A>G
ENST00000303236.9:c.2086A>G MANE Select	ENSP00000307235.3:p.Lys696Glu
ENST00000652099.1:c.2280A>G
ENST00000652736.1:n.1962A>G
ENST00000303236.7:c.2086A>G	ENSP00000307235.3:p.Lys696Glu
ENST00000415570.1:c.1723A>G	ENSP00000412076.1:p.Lys575Glu
ENST00000419748.5:c.1633A>G	ENSP00000408325.1:p.Lys545Glu
ENST00000470706.1:n.12A>G
ENST00000478003.1:n.652A>G
NM_001313915.1:c.1633A>G	NP_001300844.1:p.Lys545Glu
NM_004836.5:c.2086A>G	NP_004827.4:p.Lys696Glu
NM_004836.6:c.2086A>G	NP_004827.4:p.Lys696Glu
NR_110236.1:n.1534T>C
XM_005264649.3:c.1402A>G	XP_005264706.1:p.Lys468Glu
XR_939749.1:n.2365A>G
XM_017005376.2:c.1402A>G	XP_016860865.1:p.Lys468Glu
NM_004836.7:c.2086A>G MANE Select	NP_004827.4:p.Lys696Glu
NM_001313915.2:c.1633A>G	NP_001300844.1:p.Lys545Glu