ConVarT

ClinVar Data

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Variation ID	Allele ID	RS Number	Variant Type	Record	Alteration	Clinicial Sig.	Last Update	Phenotypes	Cytogenetic	Review Status	RCV Acc.N.

gnomAD

Frameshift Variant

Inframe Deletion

Missense Variant

Splice Region Variant

Stop Gained

Stop Lost

Synonymous Variant

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Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
1-223905465-A-C	ENST00000433674	p.Glu2Ala	Missense Variant	1	31392	0.000032	rs1371233955
1-223905471-G-A	ENST00000433674	p.Cys4Tyr	Missense Variant	0	0	0	rs746974165
1-223905471-G-C	ENST00000433674	p.Cys4Ser	Missense Variant	1	31382	0.000032	rs746974165
1-223905472-C-T	ENST00000433674	p.Cys4Cys	Synonymous Variant	2	31390	0.000064	rs545615200
1-223905473-G-A	ENST00000433674	p.Ala5Thr	Missense Variant	3	31382	0.000096	rs146935874
1-223905477-A-AC	ENST00000433674	p.Gln8ProfsTer19	Frameshift Variant	3	31362	0.000096	rs752148605
1-223905480-C-G	ENST00000433674	p.Pro7Arg	Missense Variant	0	0	0	rs905792279
1-223905490-C-T	ENST00000433674	p.Ile10Ile	Synonymous Variant	0	0	0	rs1185130105
1-223905492-T-C	ENST00000433674	p.Ile11Thr	Missense Variant	2	31356	0.000064	rs200558564
1-223905494-G-A	ENST00000433674	p.Gly12Arg	Missense Variant	0	0	0	rs1480889075
1-223905495-G-T	ENST00000433674	p.Gly12Val	Missense Variant	0	0	0	rs769470531
1-223905501-C-A	ENST00000433674	p.Ala14Asp	Missense Variant	0	0	0	rs775016222
1-223905504-C-G	ENST00000433674	p.Thr15Ser	Missense Variant	0	0	0	rs1458854366
1-223905506-C-T	ENST00000433674	p.Arg16Cys	Missense Variant	1	31382	0.000032	rs144316024
1-223905507-G-A	ENST00000433674	p.Arg16His	Missense Variant	0	0	0	rs768082890
1-223905508-C-T	ENST00000433674	p.Arg16Arg	Synonymous Variant	0	0	0	rs1451426986
1-223905509-A-G	ENST00000433674	p.Thr17Ala	Missense Variant	0	0	0	rs773804764
1-223905512-G-T	ENST00000433674	p.Asp18Tyr	Missense Variant	0	0	0	rs761239967
1-223905513-A-G	ENST00000433674	p.Asp18Gly	Missense Variant	0	0	0
1-223905515-A-G	ENST00000433674	p.Ile19Val	Missense Variant	0	0	0	rs767061602

Showing 1 to 20 of 623 entries

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Post-translational Modifications (PTMs)

Gene Name	ACC ID	PTM Type	Position	Mod-rsd	Site +/-7 Aa	Mw_kd	Site grpID

Catalogue of Somatic Mutations in Cancer (COSMIC)

Deletion - Frameshift

Substitution - Coding Silent

Substitution - Missense

Substitution - Nonsense

Unknown

Show entries

Gene Name	Transcript ID	Sample name	Primary Site	Primary Histology	Mutation ID	Mutation CDS	Mutation Aa	Mutation Desc.	FATHMM Prediction	FATHMM Score	Mutation Somatic Status	PUBMED PMID	Tumor Origin	Position
CAPN2_ENST00000433674	ENST00000433674	TCGA-56-8625-01	lung	carcinoma	53417223	c.1142G>T	p.R381M	Substitution - Missense		.54018	Confirmed somatic variant	PMID: N/A	NS	381
CAPN2_ENST00000433674	ENST00000433674	BD231T	biliary_tract	carcinoma	53416773	c.392G>A	p.G131E	Substitution - Missense	PATHOGENIC	.9764	Confirmed somatic variant	PMID: N/A	primary	131
CAPN2_ENST00000433674	ENST00000433674	T_CCA_TH_12	biliary_tract	carcinoma	53416089	c.1399-932del	p.?	Unknown			Confirmed somatic variant	PMID: N/A	primary	0
CAPN2_ENST00000433674	ENST00000433674	0154_CRUK_PC_0154_T1_DNA	prostate	carcinoma	53417714	c.902-968A>G	p.?	Unknown	NEUTRAL	.17863	Confirmed somatic variant	PMID: N/A	primary	0
CAPN2_ENST00000433674	ENST00000433674	DA1506C	endometrium	carcinoma	53416549	c.1522-1360A>G	p.?	Unknown	NEUTRAL	.00076	Confirmed somatic variant	PMID: N/A	primary	0
CAPN2_ENST00000433674	ENST00000433674	TCGA-B0-5084-01	kidney	carcinoma	53415953	c.746C>G	p.S249C	Substitution - Missense	PATHOGENIC	.98573	Variant of unknown origin	PMID: N/A	primary	249
CAPN2_ENST00000433674	ENST00000433674	DA1506C	endometrium	carcinoma	53416005	c.1522-1335C>T	p.?	Unknown	NEUTRAL	.0046	Confirmed somatic variant	PMID: N/A	primary	0
CAPN2_ENST00000433674	ENST00000433674	tumor_4178518	haematopoietic_and_lymphoid_tissue	lymphoid_neoplasm	53418871	c.665+33G>A	p.?	Unknown	NEUTRAL	.11294	Confirmed somatic variant	PMID: N/A	primary	0
CAPN2_ENST00000433674	ENST00000433674	TCGA-BH-A0DZ-01	breast	carcinoma	53419157	c.828G>A	p.K276=	Substitution - coding silent	PATHOGENIC	.84163	Confirmed somatic variant	PMID: N/A	primary	276
CAPN2_ENST00000433674	ENST00000433674	TCGA-AR-A256-01	breast	carcinoma	53416572	c.330C>G	p.I110M	Substitution - Missense	PATHOGENIC	.7585	Confirmed somatic variant	PMID: N/A	primary	110
CAPN2_ENST00000433674	ENST00000433674	GCYC_133_T	stomach	carcinoma	53416827	c.1019G>A	p.R340Q	Substitution - Missense	PATHOGENIC	.78688	Confirmed somatic variant	PMID: N/A	primary	340
CAPN2_ENST00000433674	ENST00000433674	8033510	pancreas	carcinoma	53417933	c.3+1922C>T	p.?	Unknown	NEUTRAL	.00055	Confirmed somatic variant	PMID: N/A	primary	0
CAPN2_ENST00000433674	ENST00000433674	PD23558a	breast	carcinoma	53419001	c.4-7562C>A	p.?	Unknown	NEUTRAL	.00495	Confirmed somatic variant	PMID: N/A	NS	0
CAPN2_ENST00000433674	ENST00000433674	53C	thyroid	carcinoma	53419598	c.4-4976C>A	p.?	Unknown	NEUTRAL	.13964	Confirmed somatic variant	PMID: N/A	primary	0
CAPN2_ENST00000433674	ENST00000433674	RK101_C01	liver	carcinoma	53419069	c.*469A>G	p.?	Unknown	NEUTRAL	.02999	Confirmed somatic variant	PMID: N/A	NS	0
CAPN2_ENST00000433674	ENST00000433674	2857126	urinary_tract	carcinoma	53419117	c.1786+47_1786+56del	p.?	Unknown			Confirmed somatic variant	PMID: 25096233	NS	0
CAPN2_ENST00000433674	ENST00000433674	EXTERN_MELA_20140526_075	skin	malignant_melanoma	53418110	c.695A>G	p.E232G	Substitution - Missense	PATHOGENIC	.87564	Confirmed somatic variant	PMID: 28467829	metastasis	232
CAPN2_ENST00000433674	ENST00000433674	9	stomach	carcinoma	53417393	c.1456+7A>G	p.?	Unknown	NEUTRAL	.06753	Confirmed somatic variant	PMID: N/A	primary	0
CAPN2_ENST00000433674	ENST00000433674	T3169	large_intestine	carcinoma	53416544	c.253G>A	p.G85R	Substitution - Missense	PATHOGENIC	.96762	Confirmed somatic variant	PMID: 27149842	NS	85
CAPN2_ENST00000433674	ENST00000433674	AOCS-064-1-6	ovary	carcinoma	53417097	c.74-1433C>G	p.?	Unknown	NEUTRAL	.00174	Confirmed somatic variant	PMID: N/A	NS	0

Showing 1 to 20 of 330 entries

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dbSNP

Gene ID	Transcript ID	Consequence	Position	HGVSp	Impact

Protein Domains (PFAM)

Pfam Domain	Domain Name	Description	Positions	Clan	Clan Name	Organism
NO RESULT FOUND
NO DOMAINS EXIST

List of the diseases from DisGeNET

Disease Name	Disease Category	DSI*	DPI**
Leukemia, Myelocytic, Acute	Neoplasms ;	0.636	0.586
Acute Myeloid Leukemia, M1	Neoplasms ;	0.636	0.586
Acute Myeloid Leukemia (AML-M2)	Neoplasms ;	0.636	0.586
NO RESULT FOUND

Description:	calpain 2 [Source:HGNC Symbol;Acc:HGNC:1479]
Synonyms:	mCANP, CANP2, CANPml, CANPL2
Other ID(s):	HGNC:1479, ENSG00000162909
Protein Accession Numbers:	ENST00000295006, ENST00000434648, NP_001739, ENST00000433674, NP_001139540
Statistics:	ClinVar(4) gnomAD(623) COSMIC(330)

Classification of Clinicial Significance of ClinVar Data