Canonical Allele Identifier: CA347591398

Gene: EIF2AK3

Linked Data

• dbSNP Id: rs1244497174
• gnomAD v2: 2-88874564-A-C
• gnomAD v3: 2-88575046-A-C
• gnomAD v4: 2-88575046-A-C
• MyVariant Identifiers: chr2:g.88874564A>C (hg19) ; chr2:g.88575046A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575046A>C , CM000664.2:g.88575046A>C	GRCh38
NC_000002.11:g.88874564A>C , CM000664.1:g.88874564A>C	GRCh37
NC_000002.10:g.88655679A>C	NCBI36
NG_016424.1:g.57531T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2265T>G
ENST00000682276.1:n.1882T>G
ENST00000682892.1:c.1984T>G	ENSP00000507214.1:p.Cys662Gly
ENST00000682952.1:n.2076T>G
ENST00000684455.1:c.1650T>G
ENST00000684642.1:c.1834T>G	ENSP00000507355.1:p.Cys612Gly
ENST00000684740.1:n.2615T>G
ENST00000303236.9:c.2437T>G MANE Select	ENSP00000307235.3:p.Cys813Gly
ENST00000652099.1:c.2631T>G
ENST00000652736.1:n.2313T>G
ENST00000303236.7:c.2437T>G	ENSP00000307235.3:p.Cys813Gly
ENST00000415570.1:c.2074T>G	ENSP00000412076.1:p.Cys692Gly
ENST00000419748.5:c.1984T>G	ENSP00000408325.1:p.Cys662Gly
ENST00000470706.1:n.80T>G
NM_001313915.1:c.1984T>G	NP_001300844.1:p.Cys662Gly
NM_004836.5:c.2437T>G	NP_004827.4:p.Cys813Gly
NM_004836.6:c.2437T>G	NP_004827.4:p.Cys813Gly
NR_110236.1:n.1183A>C
XM_005264649.3:c.1753T>G	XP_005264706.1:p.Cys585Gly
XM_017005376.2:c.1753T>G	XP_016860865.1:p.Cys585Gly
NM_004836.7:c.2437T>G MANE Select	NP_004827.4:p.Cys813Gly
NM_001313915.2:c.1984T>G	NP_001300844.1:p.Cys662Gly