CAPN12 calpain 12

Information
Symbol
CAPN12
Type
protein-coding
Description
calpain 12
Entrez Gene ID
147968
Genome
hg19
Position
chr19:39,220,832-39,235,114
Genome
hg38
Position
chr19:38,730,192-38,744,474
MIM
608839 OMIM
HGNC
HGNC:13249 HGNC
Ensembl
ENSG00000182472 Ensembl
Links
NCBI Gene Cards OncoKB
Clinical Significance
MGeND ClinVar
Benign 0 112
Likely benign 0 64
Uncertain significance 0 142
Ranking
ClinVar
0
0
36
274
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 :
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
MIM 608839 OMIM
HGNC HGNC:13249 HGNC
Ensembl ENSG00000182472 Ensembl
AllianceGenome HGNC:13249
DescrptionSourceLinks
IDGenomeChromosomeStartEndLength
ENST00000601953.5 hg38 chr19 38,730,431 38,769,904 39,474
ENST00000328867.9 hg38 chr19 38,730,192 38,744,474 14,283
ENST00000328867.9 hg19 chr19 39,220,832 39,235,114 14,283
ENST00000601953.5 hg19 chr19 39,221,071 39,260,544 39,474
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