NOVA2 NOVA alternative splicing regulator 2

Information
Symbol
NOVA2
Type
protein-coding
Description
NOVA alternative splicing regulator 2
Entrez Gene ID
4858
Genome
hg19
Position
chr19:46,436,992-46,477,123
Genome
hg38
Position
chr19:45,933,734-45,973,865
MIM
601991 OMIM
HGNC
HGNC:7887 HGNC
Ensembl
ENSG00000104967 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 18
Likely pathogenic 0 4
Benign 0 8
Likely benign 0 30
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 60
Ranking
ClinVar
0
0
8
100
12
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 ANOVA
SYNONYM NEDASB
SYNONYM NOVA-2
SYNONYM NOVA3
MIM 601991 OMIM
HGNC HGNC:7887 HGNC
Ensembl ENSG00000104967 Ensembl
AllianceGenome HGNC:7887
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000676183.1 hg38 chr19 45,933,734 45,974,044 40,311
ENST00000263257.6 hg38 chr19 45,933,734 45,973,865 40,132
ENST00000263257.6 hg19 chr19 46,436,992 46,477,123 40,132
ENST00000676183.1 hg19 chr19 46,436,992 46,477,302 40,311
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