Canonical Allele Identifier: CA1754455

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs759288815
• ExAC: 2:88874605 C / T
• gnomAD v2: 2-88874605-C-T
• gnomAD v3: 2-88575087-C-T
• gnomAD v4: 2-88575087-C-T
• MyVariant Identifiers: chr2:g.88874605C>T (hg19) ; chr2:g.88575087C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575087C>T , CM000664.2:g.88575087C>T	GRCh38
NC_000002.11:g.88874605C>T , CM000664.1:g.88874605C>T	GRCh37
NC_000002.10:g.88655720C>T	NCBI36
NG_016424.1:g.57490G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2224G>A
ENST00000682276.1:n.1841G>A
ENST00000682892.1:c.1943G>A	ENSP00000507214.1:p.Arg648Lys
ENST00000682952.1:n.2035G>A
ENST00000684455.1:c.1609G>A
ENST00000684642.1:c.1793G>A	ENSP00000507355.1:p.Arg598Lys
ENST00000684740.1:n.2574G>A
ENST00000303236.9:c.2396G>A MANE Select	ENSP00000307235.3:p.Arg799Lys
ENST00000652099.1:c.2590G>A
ENST00000652736.1:n.2272G>A
ENST00000303236.7:c.2396G>A	ENSP00000307235.3:p.Arg799Lys
ENST00000415570.1:c.2033G>A	ENSP00000412076.1:p.Arg678Lys
ENST00000419748.5:c.1943G>A	ENSP00000408325.1:p.Arg648Lys
ENST00000470706.1:n.49-10G>A
NM_001313915.1:c.1943G>A	NP_001300844.1:p.Arg648Lys
NM_004836.5:c.2396G>A	NP_004827.4:p.Arg799Lys
NM_004836.6:c.2396G>A	NP_004827.4:p.Arg799Lys
NR_110236.1:n.1224C>T
XM_005264649.3:c.1712G>A	XP_005264706.1:p.Arg571Lys
XM_017005376.2:c.1712G>A	XP_016860865.1:p.Arg571Lys
NM_004836.7:c.2396G>A MANE Select	NP_004827.4:p.Arg799Lys
NM_001313915.2:c.1943G>A	NP_001300844.1:p.Arg648Lys