Canonical Allele Identifier: CA1268229035
Gene: EIF2AK3 HGNC NCBI

Linked Data

dbSNP Id: rs1675826050

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88625105dup , CM000664.2:g.88625105dup GRCh38
NC_000002.11:g.88924623dup , CM000664.1:g.88924623dup GRCh37
NC_000002.10:g.88705738dup NCBI36
NG_016424.1:g.7472dup

Transcript Alleles

HGVS Amino-acid change
ENST00000682892.1:c.-145-11252dup ENSP00000507214.1:n.-145-11252dup
ENST00000303236.9:c.308+1862dup MANE Select ENSP00000307235.3:n.308+1862dup
ENST00000652099.1:c.306+1862dup
ENST00000652423.1:c.184+1862dup ENSP00000498948.1:n.184+1862dup
ENST00000303236.7:c.308+1862dup ENSP00000307235.3:n.308+1862dup
NM_004836.5:c.308+1862dup NP_004827.4:n.308+1862dup
NM_004836.6:c.308+1862dup NP_004827.4:n.308+1862dup
XR_939749.1:n.517+1862dup
XM_017005376.2:c.-573+1862dup XP_016860865.1:n.-573+1862dup
NM_004836.7:c.308+1862dup MANE Select NP_004827.4:n.308+1862dup