U2AF2 U2 small nuclear RNA auxiliary factor 2

Information
Symbol
U2AF2
Type
protein-coding
Description
U2 small nuclear RNA auxiliary factor 2
Entrez Gene ID
11338
Genome
hg19
Position
chr19:56,166,401-56,186,082
Genome
hg38
Position
chr19:55,655,035-55,674,716
MIM
191318 OMIM
HGNC
HGNC:23156 HGNC
Ensembl
ENSG00000063244 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 2
Likely pathogenic 0 12
Benign 0 4
Likely benign 0 4
not provided 4 0
Uncertain significance 0 28
Ranking
ClinVar
0
0
0
44
6
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 DEVDFB
SYNONYM U2AF65
MIM 191318 OMIM
HGNC HGNC:23156 HGNC
Ensembl ENSG00000063244 Ensembl
AllianceGenome HGNC:23156
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000450554.6 hg38 chr19 55,654,146 55,674,715 20,570
ENST00000308924.9 hg38 chr19 55,655,035 55,674,716 19,682
ENST00000450554.6 hg19 chr19 56,165,512 56,186,081 20,570
ENST00000308924.9 hg19 chr19 56,166,401 56,186,082 19,682
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