Canonical Allele Identifier: CA1754456

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs764803957
• ExAC: 2:88874615 C / T
• gnomAD v2: 2-88874615-C-T
• gnomAD v3: 2-88575097-C-T
• gnomAD v4: 2-88575097-C-T
• MyVariant Identifiers: chr2:g.88874615C>T (hg19) ; chr2:g.88575097C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575097C>T , CM000664.2:g.88575097C>T	GRCh38
NC_000002.11:g.88874615C>T , CM000664.1:g.88874615C>T	GRCh37
NC_000002.10:g.88655730C>T	NCBI36
NG_016424.1:g.57480G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2214G>A
ENST00000682276.1:n.1831G>A
ENST00000682892.1:c.1933G>A	ENSP00000507214.1:p.Val645Ile
ENST00000682952.1:n.2025G>A
ENST00000684455.1:c.1599G>A
ENST00000684642.1:c.1783G>A	ENSP00000507355.1:p.Val595Ile
ENST00000684740.1:n.2564G>A
ENST00000303236.9:c.2386G>A MANE Select	ENSP00000307235.3:p.Val796Ile
ENST00000652099.1:c.2580G>A
ENST00000652736.1:n.2262G>A
ENST00000303236.7:c.2386G>A	ENSP00000307235.3:p.Val796Ile
ENST00000415570.1:c.2023G>A	ENSP00000412076.1:p.Val675Ile
ENST00000419748.5:c.1933G>A	ENSP00000408325.1:p.Val645Ile
ENST00000470706.1:n.49-20G>A
NM_001313915.1:c.1933G>A	NP_001300844.1:p.Val645Ile
NM_004836.5:c.2386G>A	NP_004827.4:p.Val796Ile
NM_004836.6:c.2386G>A	NP_004827.4:p.Val796Ile
NR_110236.1:n.1234C>T
XM_005264649.3:c.1702G>A	XP_005264706.1:p.Val568Ile
XM_017005376.2:c.1702G>A	XP_016860865.1:p.Val568Ile
NM_004836.7:c.2386G>A MANE Select	NP_004827.4:p.Val796Ile
NM_001313915.2:c.1933G>A	NP_001300844.1:p.Val645Ile