UBA2 ubiquitin like modifier activating enzyme 2

Information
Symbol
UBA2
Type
protein-coding
Description
ubiquitin like modifier activating enzyme 2
Entrez Gene ID
10054
Genome
hg19
Position
chr19:34,919,286-34,962,156
Genome
hg38
Position
chr19:34,428,381-34,471,251
MIM
613295 OMIM
HGNC
HGNC:30661 HGNC
Ensembl
ENSG00000126261 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 20
Likely pathogenic 0 10
Benign 0 2
Likely benign 0 4
Uncertain significance 0 58
Ranking
ClinVar
0
0
2
84
8
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 :
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 ACCES
SYNONYM ARX
SYNONYM HRIHFB2115
SYNONYM SAE2
MIM 613295 OMIM
HGNC HGNC:30661 HGNC
Ensembl ENSG00000126261 Ensembl
AllianceGenome HGNC:30661
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000246548.9 hg38 chr19 34,428,381 34,471,251 42,871
ENST00000592791.1 hg38 chr19 34,458,714 34,469,398 10,685
ENST00000439527.6 hg38 chr19 34,428,876 34,469,890 41,015
ENST00000246548.9 hg19 chr19 34,919,286 34,962,156 42,871
ENST00000439527.6 hg19 chr19 34,919,781 34,960,795 41,015
ENST00000592791.1 hg19 chr19 34,949,619 34,960,303 10,685
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