EIF2S1 eukaryotic translation initiation factor 2 subunit alpha

Information
Symbol
EIF2S1
Type
protein-coding
Description
eukaryotic translation initiation factor 2 subunit alpha
Entrez Gene ID
1965
Genome
hg19
Position
chr14:67,827,045-67,853,233
Genome
hg38
Position
chr14:67,360,328-67,386,516
MIM
603907 OMIM
HGNC
HGNC:3265 HGNC
Ensembl
ENSG00000134001 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 14
Ranking
ClinVar
0
0
0
18
0
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
[No Data.]
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
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Variant name Gene AA change CDS Japanese
frequency		 TogoVar MGeND Genome ClinVar CIViC evidence DisGeNET entry COSMIC
occurrence		 Prediction
Entry Origin Type Annotation Entry Origin Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Size Chromosome Start Stop Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
Name MGeND Type Genome Gene symbol Chromosome Genomic start Genomic stop Strand Ref Alt ClinVar Origin Entry CIViC evidence DisGeNET entry
Entry Origin Type Annotation
TypeID
SYNONYM EIF-2
SYNONYM EIF-2A
SYNONYM EIF-2alpha
SYNONYM EIF2
SYNONYM EIF2A
MIM 603907 OMIM
HGNC HGNC:3265 HGNC
Ensembl ENSG00000134001 Ensembl
AllianceGenome HGNC:3265
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000256383.11 hg38 chr14 67,360,328 67,386,516 26,189
ENST00000466499.6 hg38 chr14 67,364,008 67,384,122 20,115
ENST00000256383.11 hg19 chr14 67,827,045 67,853,233 26,189
ENST00000466499.6 hg19 chr14 67,830,725 67,850,839 20,115
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