Canonical Allele Identifier: CA1754510

Gene: EIF2AK3

Linked Data

• ClinVar Variation Id: 1426106
• ClinVar RCV Id: RCV001929232 ; RCV002484593
• dbSNP Id: rs189064501
• ExAC: 2:88874909 G / A
• gnomAD v2: 2-88874909-G-A
• gnomAD v3: 2-88575391-G-A
• gnomAD v4: 2-88575391-G-A
• MyVariant Identifiers: chr2:g.88874909G>A (hg19) ; chr2:g.88575391G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575391G>A , CM000664.2:g.88575391G>A	GRCh38
NC_000002.11:g.88874909G>A , CM000664.1:g.88874909G>A	GRCh37
NC_000002.10:g.88656024G>A	NCBI36
NG_016424.1:g.57186C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000478003.2:n.1920C>T
ENST00000682276.1:n.1537C>T
ENST00000682892.1:c.1639C>T	ENSP00000507214.1:p.Arg547Cys
ENST00000682952.1:n.1731C>T
ENST00000684455.1:c.1305C>T
ENST00000684642.1:c.1489C>T	ENSP00000507355.1:p.Arg497Cys
ENST00000684740.1:n.2270C>T
ENST00000303236.9:c.2092C>T MANE Select	ENSP00000307235.3:p.Arg698Cys
ENST00000652099.1:c.2286C>T
ENST00000652736.1:n.1968C>T
ENST00000303236.7:c.2092C>T	ENSP00000307235.3:p.Arg698Cys
ENST00000415570.1:c.1729C>T	ENSP00000412076.1:p.Arg577Cys
ENST00000419748.5:c.1639C>T	ENSP00000408325.1:p.Arg547Cys
ENST00000470706.1:n.18C>T
ENST00000478003.1:n.658C>T
NM_001313915.1:c.1639C>T	NP_001300844.1:p.Arg547Cys
NM_004836.5:c.2092C>T	NP_004827.4:p.Arg698Cys
NM_004836.6:c.2092C>T	NP_004827.4:p.Arg698Cys
NR_110236.1:n.1528G>A
XM_005264649.3:c.1408C>T	XP_005264706.1:p.Arg470Cys
XR_939749.1:n.2371C>T
XM_017005376.2:c.1408C>T	XP_016860865.1:p.Arg470Cys
NM_004836.7:c.2092C>T MANE Select	NP_004827.4:p.Arg698Cys
NM_001313915.2:c.1639C>T	NP_001300844.1:p.Arg547Cys