Canonical Allele Identifier: CA894243803
Gene: EIF2AK3 HGNC NCBI

Linked Data

dbSNP Id: rs1451213952
gnomAD v3: 2-88625032-GGA-G
gnomAD v4: 2-88625032-GGA-G
MyVariant Identifiers: chr2:g.88924551_88924552del (hg19) chr2:g.88625033_88625034del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88625033_88625034del , CM000664.2:g.88625033_88625034del GRCh38
NC_000002.11:g.88924551_88924552del , CM000664.1:g.88924551_88924552del GRCh37
NC_000002.10:g.88705666_88705667del NCBI36
NG_016424.1:g.7543_7544del

Transcript Alleles

HGVS Amino-acid change
ENST00000682892.1:c.-145-11181_-145-11180del ENSP00000507214.1:n.-145-11181_-145-11180...
ENST00000303236.9:c.308+1933_308+1934del MANE Select ENSP00000307235.3:n.308+1933_308+1934del
ENST00000652099.1:c.306+1933_306+1934del
ENST00000652423.1:c.184+1933_184+1934del ENSP00000498948.1:n.184+1933_184+1934del
ENST00000303236.7:c.308+1933_308+1934del ENSP00000307235.3:n.308+1933_308+1934del
NM_004836.5:c.308+1933_308+1934del NP_004827.4:n.308+1933_308+1934del
NM_004836.6:c.308+1933_308+1934del NP_004827.4:n.308+1933_308+1934del
XR_939749.1:n.517+1933_517+1934del
XM_017005376.2:c.-573+1933_-573+1934del XP_016860865.1:n.-573+1933_-573+1934del
NM_004836.7:c.308+1933_308+1934del MANE Select NP_004827.4:n.308+1933_308+1934del
Search 100 bp 5'
Search 100 bp 3'