CAVIN2 caveolae associated protein 2

Information
Symbol
CAVIN2
Type
protein-coding
Description
caveolae associated protein 2
Entrez Gene ID
8436
Genome
hg19
Position
chr2:192,699,036-192,711,814
Genome
hg38
Position
chr2:191,834,310-191,847,088
MIM
606728 OMIM
HGNC
HGNC:10690 HGNC
Ensembl
ENSG00000168497 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 4
Likely benign 0 4
Uncertain significance 0 62
Ranking
ClinVar
0
0
0
70
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 :
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 PS-p68
SYNONYM SDPR
SYNONYM SDR
SYNONYM cavin-2
MIM 606728 OMIM
HGNC HGNC:10690 HGNC
Ensembl ENSG00000168497 Ensembl
AllianceGenome HGNC:10690
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000304141.5 hg38 chr2 191,834,310 191,847,088 12,779
ENST00000304141.5 hg19 chr2 192,699,036 192,711,814 12,779
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