ConVarT

CAPN2 (GeneID: 703047) | Macaca mulatta

Description:	calpain 2 [Source:NCBI gene;Acc:703047]
Synonyms:
Other ID(s):	ENSMMUG00000011142
Protein Accession Numbers:	NP_001247596
Statistics:	ClinVar(5)

ClinVar Pathogenicity of Variations

∙ Please click the name of species for the protein accession number used in the alignment.
∙ A p letter used as a pointer to positions of post translational modifications in human.
∙ Protein domains illustrated above belong to Homo sapiens (Human).
∙ ClinVar stacked bar chart represents whole protein isoforms of the gene. Please, check the other protein isoforms of the gene below.
∙ If more than one transcripts below are active (with blue background color), it means all the active transcripts have the same sequence.
ENST00000366872 ENST00000366873 ENST00000419193 ENST00000430824 ENST00000442247 ENST00000465098 ENST00000467384 ENST00000484873 NP_001137434

import_contactsClinVar Data
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                    Variation ID filter_listAllele ID filter_listRS Number filter_listVariant Type filter_listRecord filter_listAlteration filter_listClinicial Sig. filter_listLast Update filter_listPhenotypes filter_listCytogenetic filter_listReview Status filter_listRCV Acc.N. filter_list

healinggnomAD
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                    Variant ID filter_listTranscript ID filter_listAlteration filter_listAnnotation filter_listAllele C. filter_listAllele N. filter_listAllele F. filter_listrsNumber filter_listFlagsfilter_listFilter filter_list

                    No data available in table

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placePost-translational Modifications (PTMs)

                            Gene Name filter_list
                            ACC ID filter_list
                            PTM Type filter_list
                            Position filter_list
                            Mod-rsd filter_list
                            Site +/-7 Aa filter_list
                            Mw_kd filter_list
                            Site grpID filter_list
                        
blur_onCatalogue of Somatic Mutations in Cancer (COSMIC)

                            Gene Name filter_list
                            Transcript ID filter_list
                            Sample name filter_list
                            Primary Site filter_list
                            Primary Histology filter_list
                            Mutation ID filter_list
                            Mutation CDS filter_list
                            Mutation Aa filter_list
                            Mutation Desc. filter_list
                            FATHMM Prediction filter_list
                            FATHMM Score filter_list
                            Mutation Somatic Status filter_list
                            PUBMED PMID filter_list
                            Tumor Origin filter_list
                            Position filter_list
                        
chrome_reader_modedbSNP

                            Gene ID filter_list
                            Transcript ID filter_list
                            Consequence filter_list
                            Position filter_list
                            HGVSp filter_list
                            Impact filter_list
                        
format_align_centerProtein Domains (PFAM)

                            Pfam Domain filter_list
                            Domain Name filter_list
                            Description filter_list
                            Positions filter_list
                            Clan filter_list
                            Clan Name filter_list
                            Organism filter_list
                        
                            NO RESULT FOUND
                        
                                NO DOMAINS EXIST
                            
view_listList of the diseases from DisGeNET

                            Disease Name filter_list
                            Disease Category filter_list
                            DSI* filter_list
                            DPI** filter_list
                        
                                NO RESULT FOUND
                            
                            NO RESULT FOUND

Classification of Clinicial Significance of ClinVar Data