ConVarT

CAPN2 (GeneID: 824) | Homo sapiens

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:	gnomAD(128)

gnomAD Variants By Annotation

Frameshift Variant

Inframe Deletion

Missense Variant

Splice Region Variant

Stop Gained

Synonymous Variant

∙ 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.
ENST00000295006 ENST00000433674 ENST00000434648 NP_001139540 NP_001739

ClinVar Data

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

Synonymous Variant

Show entries

Variant ID	Transcript ID	Alteration	Annotation	Allele C.	Allele N.	Allele F.	rsNumber
1-223905465-A-C	ENST00000434648	p.Glu2Ala	Missense Variant	1	31392	0.000032	rs1371233955
1-223905471-G-A	ENST00000434648	p.Cys4Tyr	Missense Variant	0	0	0	rs746974165
1-223905471-G-C	ENST00000434648	p.Cys4Ser	Missense Variant	1	31382	0.000032	rs746974165
1-223905472-C-T	ENST00000434648	p.Cys4Cys	Synonymous Variant	2	31390	0.000064	rs545615200
1-223905473-G-A	ENST00000434648	p.Ala5Thr	Missense Variant	3	31382	0.000096	rs146935874
1-223905477-A-AC	ENST00000434648	p.Gln8ProfsTer19	Frameshift Variant	3	31362	0.000096	rs752148605
1-223905480-C-G	ENST00000434648	p.Pro7Arg	Missense Variant	0	0	0	rs905792279
1-223905490-C-T	ENST00000434648	p.Ile10Ile	Synonymous Variant	0	0	0	rs1185130105
1-223905492-T-C	ENST00000434648	p.Ile11Thr	Missense Variant	2	31356	0.000064	rs200558564
1-223905494-G-A	ENST00000434648	p.Gly12Arg	Missense Variant	0	0	0	rs1480889075
1-223905495-G-T	ENST00000434648	p.Gly12Val	Missense Variant	0	0	0	rs769470531
1-223905501-C-A	ENST00000434648	p.Ala14Asp	Missense Variant	0	0	0	rs775016222
1-223905504-C-G	ENST00000434648	p.Thr15Ser	Missense Variant	0	0	0	rs1458854366
1-223905506-C-T	ENST00000434648	p.Arg16Cys	Missense Variant	1	31382	0.000032	rs144316024
1-223905507-G-A	ENST00000434648	p.Arg16His	Missense Variant	0	0	0	rs768082890
1-223905508-C-T	ENST00000434648	p.Arg16Arg	Synonymous Variant	0	0	0	rs1451426986
1-223905509-A-G	ENST00000434648	p.Thr17Ala	Missense Variant	0	0	0	rs773804764
1-223905512-G-T	ENST00000434648	p.Asp18Tyr	Missense Variant	0	0	0	rs761239967
1-223905513-A-G	ENST00000434648	p.Asp18Gly	Missense Variant	0	0	0
1-223905515-A-G	ENST00000434648	p.Ile19Val	Missense Variant	0	0	0	rs767061602

Showing 1 to 20 of 128 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)

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

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
PF00648	Peptidase_C2	Calpain family cysteine protease	46-342	CL0125	Peptidase_CA	Mus musculus
PF01067	Calpain_III	Calpain large subunit, domain III	361-502	CL0202	GBD	Mus musculus
PF13833	EF-hand_8	EF-hand domain pair	544-603	CL0220	EF_hand	Mus musculus

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

Classification of Clinicial Significance of ClinVar Data