Canonical Allele Identifier: CA2512524705
Gene: EIF2AK3 HGNC NCBI
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.88625105A>G , CM000664.2:g.88625105A>G GRCh38
NC_000002.11:g.88924623A>G , CM000664.1:g.88924623A>G GRCh37
NC_000002.10:g.88705738A>G NCBI36
NG_016424.1:g.7472T>C

Transcript Alleles

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