CAPN2
calpain 2
Summary
The calpains, calcium-activated neutral proteases, are nonlysosomal, intracellular cysteine proteases. The mammalian calpains include ubiquitous, stomach-specific, and muscle-specific proteins. The ubiquitous enzymes consist of heterodimers with distinct large, catalytic subunits associated with a common small, regulatory subunit. This gene encodes the large subunit of the ubiquitous enzyme, calpain 2. Multiple heterogeneous transcriptional start sites in the 5' UTR have been reported. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Mar 2009]
Known Variants65 total
| rsid | Position (GRCh37) | Alleles | Class | ClinVar |
|---|---|---|---|---|
| rs1449901982 | 1:223,900,377 | G/C | — | uncertain significance |
| rs1297410443 | 1:223,900,380 | A/C | — | uncertain significance |
| rs878902358 | 1:223,900,405 | C/A | — | uncertain significance |
| rs749441899 | 1:223,900,425 | T/C | — | uncertain significance |
| rs28370008 | 1:223,900,486 | C/T | — | benign |
| rs576417116 | 1:223,900,509 | C/T | — | uncertain significance |
| rs776274069 | 1:223,900,535 | C/A | — | uncertain significance |
| rs756560847 | 1:223,900,557 | G/A | — | uncertain significance |
| rs369352429 | 1:223,900,591 | G/A | regulatory region variant | — |
| rs373214284 | 1:223,900,595 | C/T | regulatory region variant | — |
| rs200558564 | 1:223,905,492 | T/C | — | uncertain significance |
| rs6674733 | 1:223,906,397 | A/G | intron variant | — |
| rs1539707 | 1:223,910,796 | A/C | intron variant | — |
| rs7517684 | 1:223,922,062 | A/G | intron variant | — |
| rs950925577 | 1:223,931,837 | A/G | — | uncertain significance |
| rs775709921 | 1:223,931,894 | A/G | — | uncertain significance |
| rs1558069193 | 1:223,931,910 | T/C | — | uncertain significance |
| rs147235023 | 1:223,933,131 | G/A | — | likely benign |
| rs749973513 | 1:223,933,135 | A/G | — | uncertain significance |
| rs541384226 | 1:223,934,706 | G/A | — | uncertain significance |
| rs1660765816 | 1:223,934,718 | G/T | — | uncertain significance |
| rs761588429 | 1:223,934,723 | A/G | — | likely benign |
| rs768514311 | 1:223,934,740 | C/G | — | uncertain significance |
| rs761570360 | 1:223,934,751 | G/A | — | uncertain significance |
| rs780815282 | 1:223,938,626 | G/C | — | uncertain significance |
| rs544317649 | 1:223,938,628 | A/G | — | uncertain significance |
| rs865787739 | 1:223,938,637 | C/G | — | uncertain significance |
| rs1197020660 | 1:223,938,675 | C/A | — | uncertain significance |
| rs777816966 | 1:223,939,731 | A/G | — | uncertain significance |
| rs772645465 | 1:223,940,524 | A/T | — | uncertain significance |
| rs28370082 | 1:223,940,567 | C/T | — | benign |
| rs747043341 | 1:223,940,606 | G/A | — | uncertain significance |
| rs374476504 | 1:223,940,623 | G/A | — | uncertain significance |
| rs145466296 | 1:223,940,635 | C/T | missense variant | — |
| rs199728877 | 1:223,940,637 | G/A | — | uncertain significance |
| rs368366230 | 1:223,943,238 | G/A | — | uncertain significance |
| rs775033372 | 1:223,943,320 | A/T | — | uncertain significance |
| rs768761237 | 1:223,946,982 | A/G | — | uncertain significance |
| rs929071368 | 1:223,947,007 | C/G | — | likely benign |
| rs143885626 | 1:223,947,060 | G/A | — | uncertain significance |
| rs770816924 | 1:223,947,074 | C/T | — | uncertain significance |
| rs369150450 | 1:223,949,910 | T/C | — | uncertain significance |
| rs1212847954 | 1:223,951,870 | T/G | — | uncertain significance |
| rs200417819 | 1:223,954,102 | A/T | — | uncertain significance |
| rs747934987 | 1:223,954,117 | T/C | — | uncertain significance |
| rs533912773 | 1:223,957,544 | C/T | — | uncertain significance |
| rs746085124 | 1:223,957,592 | C/T | — | uncertain significance |
| rs2464826977 | 1:223,957,597 | A/T | — | uncertain significance |
| rs769967044 | 1:223,957,598 | T/C | — | uncertain significance |
| rs773086763 | 1:223,958,170 | G/A | — | uncertain significance |
| rs746809519 | 1:223,958,176 | A/G | — | uncertain significance |
| rs148485450 | 1:223,958,207 | G/A | — | uncertain significance |
| rs199643396 | 1:223,958,222 | A/C | — | uncertain significance |
| rs1457131078 | 1:223,959,520 | T/C | — | uncertain significance |
| rs146423555 | 1:223,959,543 | A/G | — | uncertain significance |
| rs531849554 | 1:223,959,547 | T/C | — | uncertain significance |
| rs765743766 | 1:223,959,598 | G/A | — | uncertain significance |
| rs550161035 | 1:223,959,610 | G/A | — | uncertain significance |
| rs139047155 | 1:223,959,622 | T/C | — | uncertain significance |
| rs778661676 | 1:223,959,889 | T/C | — | uncertain significance |
| rs2230082 | 1:223,959,891 | A/C | — | benign |
| rs1248307831 | 1:223,959,901 | A/G | — | uncertain significance |
| rs773338493 | 1:223,959,929 | C/T | — | likely benign |
| rs1558080967 | 1:223,959,936 | A/G | — | uncertain significance |
| rs61824003 | 1:223,961,182 | G/A | intron variant | — |
Gene information from NCBI Gene. Variant classifications from ClinVar.