Canonical Allele Identifier: CA427445427

Gene: EIF2AK3

Linked Data

• gnomAD v4: 2-88575026-T-C
• MyVariant Identifiers: chr2:g.88874544T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.88575026T>C , CM000664.2:g.88575026T>C	GRCh38
NC_000002.11:g.88874544T>C , CM000664.1:g.88874544T>C	GRCh37
NC_000002.10:g.88655659T>C	NCBI36
NG_016424.1:g.57551A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000478003.2:n.2285A>G
ENST00000682276.1:n.1902A>G
ENST00000682892.1:c.2004A>G	ENSP00000507214.1:p.Lys668=
ENST00000682952.1:n.2096A>G
ENST00000684455.1:c.1670A>G
ENST00000684642.1:c.1854A>G	ENSP00000507355.1:p.Lys618=
ENST00000684740.1:n.2635A>G
ENST00000303236.9:c.2457A>G MANE Select	ENSP00000307235.3:p.Lys819=
ENST00000652099.1:c.2651A>G
ENST00000652736.1:n.2333A>G
ENST00000303236.7:c.2457A>G	ENSP00000307235.3:p.Lys819=
ENST00000415570.1:c.2094A>G	ENSP00000412076.1:p.Lys698=
ENST00000419748.5:c.2004A>G	ENSP00000408325.1:p.Lys668=
ENST00000470706.1:n.100A>G
NM_001313915.1:c.2004A>G	NP_001300844.1:p.Lys668=
NM_004836.5:c.2457A>G	NP_004827.4:p.Lys819=
NM_004836.6:c.2457A>G	NP_004827.4:p.Lys819=
NR_110236.1:n.1163T>C
XM_005264649.3:c.1773A>G	XP_005264706.1:p.Lys591=
XM_017005376.2:c.1773A>G	XP_016860865.1:p.Lys591=
NM_004836.7:c.2457A>G MANE Select	NP_004827.4:p.Lys819=
NM_001313915.2:c.2004A>G	NP_001300844.1:p.Lys668=