Canonical Allele Identifier: CA427173872
Gene: EIF2AK3 HGNC NCBI

Linked Data

MyVariant Identifiers: chr2:g.88882953T>A (hg19)

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88583435T>A , CM000664.2:g.88583435T>A GRCh38
NC_000002.11:g.88882953T>A , CM000664.1:g.88882953T>A GRCh37
NC_000002.10:g.88664068T>A NCBI36
NG_016424.1:g.49142A>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000682276.1:n.1203A>T
ENST00000682892.1:c.1305A>T ENSP00000507214.1:p.Ile435=
ENST00000682952.1:n.1397A>T
ENST00000684455.1:c.971A>T
ENST00000684642.1:c.1155A>T ENSP00000507355.1:p.Ile385=
ENST00000303236.9:c.1758A>T MANE Select ENSP00000307235.3:p.Ile586=
ENST00000652099.1:c.1952A>T
ENST00000652736.1:n.1634A>T
ENST00000303236.7:c.1758A>T ENSP00000307235.3:p.Ile586=
ENST00000415570.1:c.1395A>T ENSP00000412076.1:p.Ile465=
ENST00000419748.5:c.1305A>T ENSP00000408325.1:p.Ile435=
NM_001313915.1:c.1305A>T NP_001300844.1:p.Ile435=
NM_004836.5:c.1758A>T NP_004827.4:p.Ile586=
NM_004836.6:c.1758A>T NP_004827.4:p.Ile586=
XM_005264649.3:c.1074A>T XP_005264706.1:p.Ile358=
XR_939749.1:n.1967A>T
XM_017005376.2:c.1074A>T XP_016860865.1:p.Ile358=
NM_004836.7:c.1758A>T MANE Select NP_004827.4:p.Ile586=
NM_001313915.2:c.1305A>T NP_001300844.1:p.Ile435=