Canonical Allele Identifier: CA427445172
Gene: EIF2AK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.88874655C>G (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575137C>G , CM000664.2:g.88575137C>G GRCh38
NC_000002.11:g.88874655C>G , CM000664.1:g.88874655C>G GRCh37
NC_000002.10:g.88655770C>G NCBI36
NG_016424.1:g.57440G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2174G>C
ENST00000682276.1:n.1791G>C
ENST00000682892.1:c.1893G>C ENSP00000507214.1:p.Gly631=
ENST00000682952.1:n.1985G>C
ENST00000684455.1:c.1559G>C
ENST00000684642.1:c.1743G>C ENSP00000507355.1:p.Gly581=
ENST00000684740.1:n.2524G>C
ENST00000303236.9:c.2346G>C MANE Select ENSP00000307235.3:p.Gly782=
ENST00000652099.1:c.2540G>C
ENST00000652736.1:n.2222G>C
ENST00000303236.7:c.2346G>C ENSP00000307235.3:p.Gly782=
ENST00000415570.1:c.1983G>C ENSP00000412076.1:p.Gly661=
ENST00000419748.5:c.1893G>C ENSP00000408325.1:p.Gly631=
ENST00000470706.1:n.49-60G>C
NM_001313915.1:c.1893G>C NP_001300844.1:p.Gly631=
NM_004836.5:c.2346G>C NP_004827.4:p.Gly782=
NM_004836.6:c.2346G>C NP_004827.4:p.Gly782=
NR_110236.1:n.1274C>G
XM_005264649.3:c.1662G>C XP_005264706.1:p.Gly554=
XM_017005376.2:c.1662G>C XP_016860865.1:p.Gly554=
NM_004836.7:c.2346G>C MANE Select NP_004827.4:p.Gly782=
NM_001313915.2:c.1893G>C NP_001300844.1:p.Gly631=