Canonical Allele Identifier: CA347592305

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1329425023
• gnomAD v2: 2-88874762-C-G
• gnomAD v3: 2-88575244-C-G
• gnomAD v4: 2-88575244-C-G
• MyVariant Identifiers: chr2:g.88874762C>G (hg19) ; chr2:g.88575244C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575244C>G , CM000664.2:g.88575244C>G	GRCh38
NC_000002.11:g.88874762C>G , CM000664.1:g.88874762C>G	GRCh37
NC_000002.10:g.88655877C>G	NCBI36
NG_016424.1:g.57333G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2067G>C
ENST00000682276.1:n.1684G>C
ENST00000682892.1:c.1786G>C	ENSP00000507214.1:p.Asp596His
ENST00000682952.1:n.1878G>C
ENST00000684455.1:c.1452G>C
ENST00000684642.1:c.1636G>C	ENSP00000507355.1:p.Asp546His
ENST00000684740.1:n.2417G>C
ENST00000303236.9:c.2239G>C MANE Select	ENSP00000307235.3:p.Asp747His
ENST00000652099.1:c.2433G>C
ENST00000652736.1:n.2115G>C
ENST00000303236.7:c.2239G>C	ENSP00000307235.3:p.Asp747His
ENST00000415570.1:c.1876G>C	ENSP00000412076.1:p.Asp626His
ENST00000419748.5:c.1786G>C	ENSP00000408325.1:p.Asp596His
ENST00000470706.1:n.48+117G>C
NM_001313915.1:c.1786G>C	NP_001300844.1:p.Asp596His
NM_004836.5:c.2239G>C	NP_004827.4:p.Asp747His
NM_004836.6:c.2239G>C	NP_004827.4:p.Asp747His
NR_110236.1:n.1381C>G
XM_005264649.3:c.1555G>C	XP_005264706.1:p.Asp519His
XM_017005376.2:c.1555G>C	XP_016860865.1:p.Asp519His
NM_004836.7:c.2239G>C MANE Select	NP_004827.4:p.Asp747His
NM_001313915.2:c.1786G>C	NP_001300844.1:p.Asp596His