Canonical Allele Identifier: CA1754469

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs747601591
• ExAC: 2:88874709 A / T
• gnomAD v2: 2-88874709-A-T
• gnomAD v3: 2-88575191-A-T
• gnomAD v4: 2-88575191-A-T
• MyVariant Identifiers: chr2:g.88874709A>T (hg19) ; chr2:g.88575191A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575191A>T , CM000664.2:g.88575191A>T	GRCh38
NC_000002.11:g.88874709A>T , CM000664.1:g.88874709A>T	GRCh37
NC_000002.10:g.88655824A>T	NCBI36
NG_016424.1:g.57386T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2120T>A
ENST00000682276.1:n.1737T>A
ENST00000682892.1:c.1839T>A	ENSP00000507214.1:p.Ser613Arg
ENST00000682952.1:n.1931T>A
ENST00000684455.1:c.1505T>A
ENST00000684642.1:c.1689T>A	ENSP00000507355.1:p.Ser563Arg
ENST00000684740.1:n.2470T>A
ENST00000303236.9:c.2292T>A MANE Select	ENSP00000307235.3:p.Ser764Arg
ENST00000652099.1:c.2486T>A
ENST00000652736.1:n.2168T>A
ENST00000303236.7:c.2292T>A	ENSP00000307235.3:p.Ser764Arg
ENST00000415570.1:c.1929T>A	ENSP00000412076.1:p.Ser643Arg
ENST00000419748.5:c.1839T>A	ENSP00000408325.1:p.Ser613Arg
ENST00000470706.1:n.49-114T>A
NM_001313915.1:c.1839T>A	NP_001300844.1:p.Ser613Arg
NM_004836.5:c.2292T>A	NP_004827.4:p.Ser764Arg
NM_004836.6:c.2292T>A	NP_004827.4:p.Ser764Arg
NR_110236.1:n.1328A>T
XM_005264649.3:c.1608T>A	XP_005264706.1:p.Ser536Arg
XM_017005376.2:c.1608T>A	XP_016860865.1:p.Ser536Arg
NM_004836.7:c.2292T>A MANE Select	NP_004827.4:p.Ser764Arg
NM_001313915.2:c.1839T>A	NP_001300844.1:p.Ser613Arg