Canonical Allele Identifier: CA1754454

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs776126535
• ExAC: 2:88874569 G / C
• gnomAD v2: 2-88874569-G-C
• gnomAD v4: 2-88575051-G-C
• COSMIC: COSM4807822 ; COSM4807823
• MyVariant Identifiers: chr2:g.88874569G>C (hg19) ; chr2:g.88575051G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575051G>C , CM000664.2:g.88575051G>C	GRCh38
NC_000002.11:g.88874569G>C , CM000664.1:g.88874569G>C	GRCh37
NC_000002.10:g.88655684G>C	NCBI36
NG_016424.1:g.57526C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2260C>G
ENST00000682276.1:n.1877C>G
ENST00000682892.1:c.1979C>G	ENSP00000507214.1:p.Ser660Cys
ENST00000682952.1:n.2071C>G
ENST00000684455.1:c.1645C>G
ENST00000684642.1:c.1829C>G	ENSP00000507355.1:p.Ser610Cys
ENST00000684740.1:n.2610C>G
ENST00000303236.9:c.2432C>G MANE Select	ENSP00000307235.3:p.Ser811Cys
ENST00000652099.1:c.2626C>G
ENST00000652736.1:n.2308C>G
ENST00000303236.7:c.2432C>G	ENSP00000307235.3:p.Ser811Cys
ENST00000415570.1:c.2069C>G	ENSP00000412076.1:p.Ser690Cys
ENST00000419748.5:c.1979C>G	ENSP00000408325.1:p.Ser660Cys
ENST00000470706.1:n.75C>G
NM_001313915.1:c.1979C>G	NP_001300844.1:p.Ser660Cys
NM_004836.5:c.2432C>G	NP_004827.4:p.Ser811Cys
NM_004836.6:c.2432C>G	NP_004827.4:p.Ser811Cys
NR_110236.1:n.1188G>C
XM_005264649.3:c.1748C>G	XP_005264706.1:p.Ser583Cys
XM_017005376.2:c.1748C>G	XP_016860865.1:p.Ser583Cys
NM_004836.7:c.2432C>G MANE Select	NP_004827.4:p.Ser811Cys
NM_001313915.2:c.1979C>G	NP_001300844.1:p.Ser660Cys