CASP2 caspase 2

Information
Symbol
CASP2
Type
protein-coding
Description
caspase 2
Entrez Gene ID
835
Genome
hg19
Position
chr7:142,985,444-143,004,789
Genome
hg38
Position
chr7:143,288,351-143,307,696
MIM
600639 OMIM
HGNC
HGNC:1503 HGNC
Ensembl
ENSG00000106144 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Pathogenic 0 8
Benign 0 10
Likely benign 0 14
Conflicting classifications of pathogenicity 0 2
Uncertain significance 0 38
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 :
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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 CASP-2
SYNONYM ICH1
SYNONYM MRT80
SYNONYM NEDD-2
SYNONYM NEDD2
SYNONYM PPP1R57
MIM 600639 OMIM
HGNC HGNC:1503 HGNC
Ensembl ENSG00000106144 Ensembl
AllianceGenome HGNC:1503
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000619992.4 hg38 chr7 143,288,215 143,307,695 19,481
ENST00000310447.10 hg38 chr7 143,288,351 143,307,696 19,346
ENST00000392925.6 hg38 chr7 143,288,395 143,293,226 4,832
ENST00000619992.4 hg19 chr7 142,985,308 143,004,788 19,481
ENST00000310447.10 hg19 chr7 142,985,444 143,004,789 19,346
ENST00000392925.6 hg19 chr7 142,985,488 142,990,319 4,832
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