CAV2 caveolin 2

Information
Symbol
CAV2
Type
protein-coding
Description
caveolin 2
Entrez Gene ID
858
Genome
hg19
Position
chr7:116,139,792-116,148,595
Genome
hg38
Position
chr7:116,499,738-116,508,541
MIM
601048 OMIM
HGNC
HGNC:1528 HGNC
Ensembl
ENSG00000105971 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 2
Likely benign 0 2
Uncertain significance 0 22
Ranking
ClinVar
0
0
0
26
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 :
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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 CAV
MIM 601048 OMIM
HGNC HGNC:1528 HGNC
Ensembl ENSG00000105971 Ensembl
AllianceGenome HGNC:1528
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000222693.5 hg38 chr7 116,499,738 116,508,541 8,804
ENST00000393480.3 hg38 chr7 116,499,780 116,501,286 1,507
ENST00000343213.2 hg38 chr7 116,499,740 116,506,554 6,815
ENST00000222693.5 hg19 chr7 116,139,792 116,148,595 8,804
ENST00000343213.2 hg19 chr7 116,139,794 116,146,608 6,815
ENST00000393480.3 hg19 chr7 116,139,834 116,141,340 1,507
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