Canonical Allele Identifier: CA1754514

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 337409
• ClinVar RCV Id: RCV000303905 ; RCV000499424 ; RCV001303458 ; RCV004021822
• dbSNP Id: rs771612567
• ExAC: 2:88874937 G / T
• gnomAD v2: 2-88874937-G-T
• gnomAD v3: 2-88575419-G-T
• gnomAD v4: 2-88575419-G-T
• MyVariant Identifiers: chr2:g.88874937G>T (hg19) ; chr2:g.88575419G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575419G>T , CM000664.2:g.88575419G>T	GRCh38
NC_000002.11:g.88874937G>T , CM000664.1:g.88874937G>T	GRCh37
NC_000002.10:g.88656052G>T	NCBI36
NG_016424.1:g.57158C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1892C>A
ENST00000682276.1:n.1509C>A
ENST00000682892.1:c.1611C>A	ENSP00000507214.1:p.Ser537Arg
ENST00000682952.1:n.1703C>A
ENST00000684455.1:c.1277C>A
ENST00000684642.1:c.1461C>A	ENSP00000507355.1:p.Ser487Arg
ENST00000684740.1:n.2242C>A
ENST00000303236.9:c.2064C>A MANE Select	ENSP00000307235.3:p.Ser688Arg
ENST00000652099.1:c.2258C>A
ENST00000652736.1:n.1940C>A
ENST00000303236.7:c.2064C>A	ENSP00000307235.3:p.Ser688Arg
ENST00000415570.1:c.1701C>A	ENSP00000412076.1:p.Ser567Arg
ENST00000419748.5:c.1611C>A	ENSP00000408325.1:p.Ser537Arg
ENST00000478003.1:n.630C>A
NM_001313915.1:c.1611C>A	NP_001300844.1:p.Ser537Arg
NM_004836.5:c.2064C>A	NP_004827.4:p.Ser688Arg
NM_004836.6:c.2064C>A	NP_004827.4:p.Ser688Arg
NR_110236.1:n.1556G>T
XM_005264649.3:c.1380C>A	XP_005264706.1:p.Ser460Arg
XR_939749.1:n.2343C>A
XM_017005376.2:c.1380C>A	XP_016860865.1:p.Ser460Arg
NM_004836.7:c.2064C>A MANE Select	NP_004827.4:p.Ser688Arg
NM_001313915.2:c.1611C>A	NP_001300844.1:p.Ser537Arg