Canonical Allele Identifier: CA2660014817
Gene: EIF2AK3 HGNC NCBI

Linked Data

gnomAD v4: 2-88625020-G-T
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88625020G>T , CM000664.2:g.88625020G>T GRCh38
NC_000002.11:g.88924538G>T , CM000664.1:g.88924538G>T GRCh37
NC_000002.10:g.88705653G>T NCBI36
NG_016424.1:g.7557C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000682892.1:c.-145-11167C>A ENSP00000507214.1:n.-145-11167C>A
ENST00000303236.9:c.308+1947C>A MANE Select ENSP00000307235.3:n.308+1947C>A
ENST00000652099.1:c.306+1947C>A
ENST00000652423.1:c.184+1947C>A ENSP00000498948.1:n.184+1947C>A
ENST00000303236.7:c.308+1947C>A ENSP00000307235.3:n.308+1947C>A
NM_004836.5:c.308+1947C>A NP_004827.4:n.308+1947C>A
NM_004836.6:c.308+1947C>A NP_004827.4:n.308+1947C>A
XR_939749.1:n.517+1947C>A
XM_017005376.2:c.-573+1947C>A XP_016860865.1:n.-573+1947C>A
NM_004836.7:c.308+1947C>A MANE Select NP_004827.4:n.308+1947C>A
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