Canonical Allele Identifier: CA427445587
Gene: EIF2AK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.88874598T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575080T>C , CM000664.2:g.88575080T>C GRCh38
NC_000002.11:g.88874598T>C , CM000664.1:g.88874598T>C GRCh37
NC_000002.10:g.88655713T>C NCBI36
NG_016424.1:g.57497A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2231A>G
ENST00000682276.1:n.1848A>G
ENST00000682892.1:c.1950A>G ENSP00000507214.1:p.Arg650=
ENST00000682952.1:n.2042A>G
ENST00000684455.1:c.1616A>G
ENST00000684642.1:c.1800A>G ENSP00000507355.1:p.Arg600=
ENST00000684740.1:n.2581A>G
ENST00000303236.9:c.2403A>G MANE Select ENSP00000307235.3:p.Arg801=
ENST00000652099.1:c.2597A>G
ENST00000652736.1:n.2279A>G
ENST00000303236.7:c.2403A>G ENSP00000307235.3:p.Arg801=
ENST00000415570.1:c.2040A>G ENSP00000412076.1:p.Arg680=
ENST00000419748.5:c.1950A>G ENSP00000408325.1:p.Arg650=
ENST00000470706.1:n.49-3A>G
NM_001313915.1:c.1950A>G NP_001300844.1:p.Arg650=
NM_004836.5:c.2403A>G NP_004827.4:p.Arg801=
NM_004836.6:c.2403A>G NP_004827.4:p.Arg801=
NR_110236.1:n.1217T>C
XM_005264649.3:c.1719A>G XP_005264706.1:p.Arg573=
XM_017005376.2:c.1719A>G XP_016860865.1:p.Arg573=
NM_004836.7:c.2403A>G MANE Select NP_004827.4:p.Arg801=
NM_001313915.2:c.1950A>G NP_001300844.1:p.Arg650=