Canonical Allele Identifier: CA427173464
Gene: EIF2AK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.88875044A>T (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88575526A>T , CM000664.2:g.88575526A>T GRCh38
NC_000002.11:g.88875044A>T , CM000664.1:g.88875044A>T GRCh37
NC_000002.10:g.88656159A>T NCBI36
NG_016424.1:g.57051T>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000478003.2:n.1865-80T>A
ENST00000682276.1:n.1482-80T>A
ENST00000682892.1:c.1584-80T>A ENSP00000507214.1:n.1584-80T>A
ENST00000682952.1:n.1676-80T>A
ENST00000684455.1:c.1250-80T>A
ENST00000684642.1:c.1434-80T>A ENSP00000507355.1:n.1434-80T>A
ENST00000684740.1:n.2215-80T>A
ENST00000303236.9:c.2037-80T>A MANE Select ENSP00000307235.3:n.2037-80T>A
ENST00000652099.1:c.2231-80T>A
ENST00000652736.1:n.1913-80T>A
ENST00000303236.7:c.2037-80T>A ENSP00000307235.3:n.2037-80T>A
ENST00000415570.1:c.1674-80T>A ENSP00000412076.1:n.1674-80T>A
ENST00000419748.5:c.1584-80T>A ENSP00000408325.1:n.1584-80T>A
ENST00000478003.1:n.603-80T>A
NM_001313915.1:c.1584-80T>A NP_001300844.1:n.1584-80T>A
NM_004836.5:c.2037-80T>A NP_004827.4:n.2037-80T>A
NM_004836.6:c.2037-80T>A NP_004827.4:n.2037-80T>A
NR_110236.1:n.1663A>T
XM_005264649.3:c.1353-80T>A XP_005264706.1:n.1353-80T>A
XR_939749.1:n.2316-80T>A
XM_017005376.2:c.1353-80T>A XP_016860865.1:n.1353-80T>A
NM_004836.7:c.2037-80T>A MANE Select NP_004827.4:n.2037-80T>A
NM_001313915.2:c.1584-80T>A NP_001300844.1:n.1584-80T>A