Canonical Allele Identifier: CA347592265

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575237-T-C
• MyVariant Identifiers: chr2:g.88874755T>C (hg19) ; chr2:g.88575237T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575237T>C , CM000664.2:g.88575237T>C	GRCh38
NC_000002.11:g.88874755T>C , CM000664.1:g.88874755T>C	GRCh37
NC_000002.10:g.88655870T>C	NCBI36
NG_016424.1:g.57340A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2074A>G
ENST00000682276.1:n.1691A>G
ENST00000682892.1:c.1793A>G	ENSP00000507214.1:p.Glu598Gly
ENST00000682952.1:n.1885A>G
ENST00000684455.1:c.1459A>G
ENST00000684642.1:c.1643A>G	ENSP00000507355.1:p.Glu548Gly
ENST00000684740.1:n.2424A>G
ENST00000303236.9:c.2246A>G MANE Select	ENSP00000307235.3:p.Glu749Gly
ENST00000652099.1:c.2440A>G
ENST00000652736.1:n.2122A>G
ENST00000303236.7:c.2246A>G	ENSP00000307235.3:p.Glu749Gly
ENST00000415570.1:c.1883A>G	ENSP00000412076.1:p.Glu628Gly
ENST00000419748.5:c.1793A>G	ENSP00000408325.1:p.Glu598Gly
ENST00000470706.1:n.48+124A>G
NM_001313915.1:c.1793A>G	NP_001300844.1:p.Glu598Gly
NM_004836.5:c.2246A>G	NP_004827.4:p.Glu749Gly
NM_004836.6:c.2246A>G	NP_004827.4:p.Glu749Gly
NR_110236.1:n.1374T>C
XM_005264649.3:c.1562A>G	XP_005264706.1:p.Glu521Gly
XM_017005376.2:c.1562A>G	XP_016860865.1:p.Glu521Gly
NM_004836.7:c.2246A>G MANE Select	NP_004827.4:p.Glu749Gly
NM_001313915.2:c.1793A>G	NP_001300844.1:p.Glu598Gly