CATSPER2 cation channel sperm associated 2

Information
Symbol
CATSPER2
Type
protein-coding
Description
cation channel sperm associated 2
Entrez Gene ID
117155
Genome
hg19
Position
chr15:43,922,760-43,941,043
Genome
hg38
Position
chr15:43,630,562-43,648,845
MIM
607249 OMIM
HGNC
HGNC:18810 HGNC
Ensembl
ENSG00000166762 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 34
Likely benign 0 18
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 62
Ranking
ClinVar
0
0
6
106
2
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
MIM 607249 OMIM
HGNC HGNC:18810 HGNC
Ensembl ENSG00000166762 Ensembl
AllianceGenome HGNC:18810
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000396879.8 hg38 chr15 43,628,503 43,648,844 20,342
ENST00000381761.6 hg38 chr15 43,630,562 43,648,845 18,284
ENST00000321596.6 hg38 chr15 43,630,574 43,648,844 18,271
ENST00000396879.8 hg19 chr15 43,920,701 43,941,042 20,342
ENST00000381761.6 hg19 chr15 43,922,760 43,941,043 18,284
ENST00000321596.6 hg19 chr15 43,922,772 43,941,042 18,271
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