EIF2B1 eukaryotic translation initiation factor 2B subunit alpha

Information
Symbol
EIF2B1
Type
protein-coding
Description
eukaryotic translation initiation factor 2B subunit alpha
Entrez Gene ID
1967
Genome
hg19
Position
chr12:124,104,953-124,118,233
Genome
hg38
Position
chr12:123,620,406-123,633,686
MIM
606686 OMIM
HGNC
HGNC:3257 HGNC
Ensembl
ENSG00000111361 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 38
Likely pathogenic 0 14
Benign 0 42
Likely benign 0 280
Conflicting classifications of pathogenicity 0 16
other 1 0
Uncertain significance 0 160
Ranking
ClinVar
0
0
38
480
10
Frequency
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
EXAC_EAS
EXAC_EAS
HGVD
HGVD
TOMMO
TOMMO
Gene
Position
Disease area statistics
Locus Zoom
Variants
Search Word
Target data :
MGeND data only
Category :
Search word :
Filtering :
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 EIF2B
SYNONYM EIF2BA
SYNONYM EIF2Balpha
SYNONYM VWM1
MIM 606686 OMIM
HGNC HGNC:3257 HGNC
Ensembl ENSG00000111361 Ensembl
AllianceGenome HGNC:3257
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000539951.5 hg38 chr12 123,621,738 123,632,447 10,710
ENST00000537073.1 hg38 chr12 123,625,967 123,633,766 7,800
ENST00000424014.7 hg38 chr12 123,620,406 123,633,686 13,281
ENST00000424014.7 hg19 chr12 124,104,953 124,118,233 13,281
ENST00000539951.5 hg19 chr12 124,106,285 124,116,994 10,710
ENST00000537073.1 hg19 chr12 124,110,514 124,118,313 7,800
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