Canonical Allele Identifier: CA347592433

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1346069423
• gnomAD v3: 2-88575274-G-C
• gnomAD v4: 2-88575274-G-C
• MyVariant Identifiers: chr2:g.88874792G>C (hg19) ; chr2:g.88575274G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575274G>C , CM000664.2:g.88575274G>C	GRCh38
NC_000002.11:g.88874792G>C , CM000664.1:g.88874792G>C	GRCh37
NC_000002.10:g.88655907G>C	NCBI36
NG_016424.1:g.57303C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2037C>G
ENST00000682276.1:n.1654C>G
ENST00000682892.1:c.1756C>G	ENSP00000507214.1:p.Gln586Glu
ENST00000682952.1:n.1848C>G
ENST00000684455.1:c.1422C>G
ENST00000684642.1:c.1606C>G	ENSP00000507355.1:p.Gln536Glu
ENST00000684740.1:n.2387C>G
ENST00000303236.9:c.2209C>G MANE Select	ENSP00000307235.3:p.Gln737Glu
ENST00000652099.1:c.2403C>G
ENST00000652736.1:n.2085C>G
ENST00000303236.7:c.2209C>G	ENSP00000307235.3:p.Gln737Glu
ENST00000415570.1:c.1846C>G	ENSP00000412076.1:p.Gln616Glu
ENST00000419748.5:c.1756C>G	ENSP00000408325.1:p.Gln586Glu
ENST00000470706.1:n.48+87C>G
NM_001313915.1:c.1756C>G	NP_001300844.1:p.Gln586Glu
NM_004836.5:c.2209C>G	NP_004827.4:p.Gln737Glu
NM_004836.6:c.2209C>G	NP_004827.4:p.Gln737Glu
NR_110236.1:n.1411G>C
XM_005264649.3:c.1525C>G	XP_005264706.1:p.Gln509Glu
XR_939749.1:n.2488C>G
XM_017005376.2:c.1525C>G	XP_016860865.1:p.Gln509Glu
NM_004836.7:c.2209C>G MANE Select	NP_004827.4:p.Gln737Glu
NM_001313915.2:c.1756C>G	NP_001300844.1:p.Gln586Glu