Canonical Allele Identifier: CA427445421

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 2982049
• ClinVar RCV Id: RCV003840631
• dbSNP Id: rs1674418761
• gnomAD v3: 2-88575023-T-C
• gnomAD v4: 2-88575023-T-C
• MyVariant Identifiers: chr2:g.88874541T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575023T>C , CM000664.2:g.88575023T>C	GRCh38
NC_000002.11:g.88874541T>C , CM000664.1:g.88874541T>C	GRCh37
NC_000002.10:g.88655656T>C	NCBI36
NG_016424.1:g.57554A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2288A>G
ENST00000682103.1:c.1A>G
ENST00000682276.1:n.1905A>G
ENST00000682892.1:c.2007A>G	ENSP00000507214.1:p.Glu669=
ENST00000682952.1:n.2099A>G
ENST00000684455.1:c.1673A>G
ENST00000684642.1:c.1857A>G	ENSP00000507355.1:p.Glu619=
ENST00000684740.1:n.2638A>G
ENST00000303236.9:c.2460A>G MANE Select	ENSP00000307235.3:p.Glu820=
ENST00000652099.1:c.2654A>G
ENST00000652736.1:n.2336A>G
ENST00000303236.7:c.2460A>G	ENSP00000307235.3:p.Glu820=
ENST00000415570.1:c.2097A>G	ENSP00000412076.1:p.Glu699=
ENST00000419748.5:c.2007A>G	ENSP00000408325.1:p.Glu669=
ENST00000470706.1:n.103A>G
NM_001313915.1:c.2007A>G	NP_001300844.1:p.Glu669=
NM_004836.5:c.2460A>G	NP_004827.4:p.Glu820=
NM_004836.6:c.2460A>G	NP_004827.4:p.Glu820=
NR_110236.1:n.1160T>C
XM_005264649.3:c.1776A>G	XP_005264706.1:p.Glu592=
XM_017005376.2:c.1776A>G	XP_016860865.1:p.Glu592=
NM_004836.7:c.2460A>G MANE Select	NP_004827.4:p.Glu820=
NM_001313915.2:c.2007A>G	NP_001300844.1:p.Glu669=