Canonical Allele Identifier: CA427445514
Gene: EIF2AK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.88874574T>C (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575056T>C , CM000664.2:g.88575056T>C GRCh38
NC_000002.11:g.88874574T>C , CM000664.1:g.88874574T>C GRCh37
NC_000002.10:g.88655689T>C NCBI36
NG_016424.1:g.57521A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.2255A>G
ENST00000682276.1:n.1872A>G
ENST00000682892.1:c.1974A>G ENSP00000507214.1:p.Glu658=
ENST00000682952.1:n.2066A>G
ENST00000684455.1:c.1640A>G
ENST00000684642.1:c.1824A>G ENSP00000507355.1:p.Glu608=
ENST00000684740.1:n.2605A>G
ENST00000303236.9:c.2427A>G MANE Select ENSP00000307235.3:p.Glu809=
ENST00000652099.1:c.2621A>G
ENST00000652736.1:n.2303A>G
ENST00000303236.7:c.2427A>G ENSP00000307235.3:p.Glu809=
ENST00000415570.1:c.2064A>G ENSP00000412076.1:p.Glu688=
ENST00000419748.5:c.1974A>G ENSP00000408325.1:p.Glu658=
ENST00000470706.1:n.70A>G
NM_001313915.1:c.1974A>G NP_001300844.1:p.Glu658=
NM_004836.5:c.2427A>G NP_004827.4:p.Glu809=
NM_004836.6:c.2427A>G NP_004827.4:p.Glu809=
NR_110236.1:n.1193T>C
XM_005264649.3:c.1743A>G XP_005264706.1:p.Glu581=
XM_017005376.2:c.1743A>G XP_016860865.1:p.Glu581=
NM_004836.7:c.2427A>G MANE Select NP_004827.4:p.Glu809=
NM_001313915.2:c.1974A>G NP_001300844.1:p.Glu658=