Canonical Allele Identifier: CA347591534

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1674420213
• gnomAD v3: 2-88575076-A-T
• gnomAD v4: 2-88575076-A-T
• MyVariant Identifiers: chr2:g.88874594A>T (hg19) ; chr2:g.88575076A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575076A>T , CM000664.2:g.88575076A>T	GRCh38
NC_000002.11:g.88874594A>T , CM000664.1:g.88874594A>T	GRCh37
NC_000002.10:g.88655709A>T	NCBI36
NG_016424.1:g.57501T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2235T>A
ENST00000682276.1:n.1852T>A
ENST00000682892.1:c.1954T>A	ENSP00000507214.1:p.Ser652Thr
ENST00000682952.1:n.2046T>A
ENST00000684455.1:c.1620T>A
ENST00000684642.1:c.1804T>A	ENSP00000507355.1:p.Ser602Thr
ENST00000684740.1:n.2585T>A
ENST00000303236.9:c.2407T>A MANE Select	ENSP00000307235.3:p.Ser803Thr
ENST00000652099.1:c.2601T>A
ENST00000652736.1:n.2283T>A
ENST00000303236.7:c.2407T>A	ENSP00000307235.3:p.Ser803Thr
ENST00000415570.1:c.2044T>A	ENSP00000412076.1:p.Ser682Thr
ENST00000419748.5:c.1954T>A	ENSP00000408325.1:p.Ser652Thr
ENST00000470706.1:n.50T>A
NM_001313915.1:c.1954T>A	NP_001300844.1:p.Ser652Thr
NM_004836.5:c.2407T>A	NP_004827.4:p.Ser803Thr
NM_004836.6:c.2407T>A	NP_004827.4:p.Ser803Thr
NR_110236.1:n.1213A>T
XM_005264649.3:c.1723T>A	XP_005264706.1:p.Ser575Thr
XM_017005376.2:c.1723T>A	XP_016860865.1:p.Ser575Thr
NM_004836.7:c.2407T>A MANE Select	NP_004827.4:p.Ser803Thr
NM_001313915.2:c.1954T>A	NP_001300844.1:p.Ser652Thr