Canonical Allele Identifier: CA347592070
Gene: EIF2AK3 HGNC NCBI

Linked Data

ClinVar Variation Id: 1502189
ClinVar RCV Id: RCV002010916
dbSNP Id: rs2104411621

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575199G>C , CM000664.2:g.88575199G>C GRCh38
NC_000002.11:g.88874717G>C , CM000664.1:g.88874717G>C GRCh37
NC_000002.10:g.88655832G>C NCBI36
NG_016424.1:g.57378C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2112C>G
ENST00000682276.1:n.1729C>G
ENST00000682892.1:c.1831C>G ENSP00000507214.1:p.Gln611Glu
ENST00000682952.1:n.1923C>G
ENST00000684455.1:c.1497C>G
ENST00000684642.1:c.1681C>G ENSP00000507355.1:p.Gln561Glu
ENST00000684740.1:n.2462C>G
ENST00000303236.9:c.2284C>G MANE Select ENSP00000307235.3:p.Gln762Glu
ENST00000652099.1:c.2478C>G
ENST00000652736.1:n.2160C>G
ENST00000303236.7:c.2284C>G ENSP00000307235.3:p.Gln762Glu
ENST00000415570.1:c.1921C>G ENSP00000412076.1:p.Gln641Glu
ENST00000419748.5:c.1831C>G ENSP00000408325.1:p.Gln611Glu
ENST00000470706.1:n.49-122C>G
NM_001313915.1:c.1831C>G NP_001300844.1:p.Gln611Glu
NM_004836.5:c.2284C>G NP_004827.4:p.Gln762Glu
NM_004836.6:c.2284C>G NP_004827.4:p.Gln762Glu
NR_110236.1:n.1336G>C
XM_005264649.3:c.1600C>G XP_005264706.1:p.Gln534Glu
XM_017005376.2:c.1600C>G XP_016860865.1:p.Gln534Glu
NM_004836.7:c.2284C>G MANE Select NP_004827.4:p.Gln762Glu
NM_001313915.2:c.1831C>G NP_001300844.1:p.Gln611Glu