Canonical Allele Identifier: CA51486670

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs974345812
• gnomAD v2: 2-88874918-C-T
• gnomAD v3: 2-88575400-C-T
• gnomAD v4: 2-88575400-C-T
• MyVariant Identifiers: chr2:g.88874918C>T (hg19) ; chr2:g.88575400C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575400C>T , CM000664.2:g.88575400C>T	GRCh38
NC_000002.11:g.88874918C>T , CM000664.1:g.88874918C>T	GRCh37
NC_000002.10:g.88656033C>T	NCBI36
NG_016424.1:g.57177G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.1911G>A
ENST00000682276.1:n.1528G>A
ENST00000682892.1:c.1630G>A	ENSP00000507214.1:p.Val544Ile
ENST00000682952.1:n.1722G>A
ENST00000684455.1:c.1296G>A
ENST00000684642.1:c.1480G>A	ENSP00000507355.1:p.Val494Ile
ENST00000684740.1:n.2261G>A
ENST00000303236.9:c.2083G>A MANE Select	ENSP00000307235.3:p.Val695Ile
ENST00000652099.1:c.2277G>A
ENST00000652736.1:n.1959G>A
ENST00000303236.7:c.2083G>A	ENSP00000307235.3:p.Val695Ile
ENST00000415570.1:c.1720G>A	ENSP00000412076.1:p.Val574Ile
ENST00000419748.5:c.1630G>A	ENSP00000408325.1:p.Val544Ile
ENST00000470706.1:n.9G>A
ENST00000478003.1:n.649G>A
NM_001313915.1:c.1630G>A	NP_001300844.1:p.Val544Ile
NM_004836.5:c.2083G>A	NP_004827.4:p.Val695Ile
NM_004836.6:c.2083G>A	NP_004827.4:p.Val695Ile
NR_110236.1:n.1537C>T
XM_005264649.3:c.1399G>A	XP_005264706.1:p.Val467Ile
XR_939749.1:n.2362G>A
XM_017005376.2:c.1399G>A	XP_016860865.1:p.Val467Ile
NM_004836.7:c.2083G>A MANE Select	NP_004827.4:p.Val695Ile
NM_001313915.2:c.1630G>A	NP_001300844.1:p.Val544Ile