UPDATE - Protein Allele ID & Protein Sequence HGVS Requests Partially Restored
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
Protein allele requests are no longer disabled.
Currently, hypothetical explanatory transcript generation is not part of the response and is being investigated.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47981780_47981793del | CA2573148586 | COL2A1 | c.2186_2199del (p.Gly729GlufsTer21) c.2393_2406del (p.Gly798GlufsTer21) n.571_584del n.1479_1492del c.2537_2550del (p.Gly846GlufsTer21) c.2534_2547del (p.Gly845GlufsTer21) c.1481_1494del (p.Gly494GlufsTer21) n.208+354_208+367del c.2327_2340del (p.Gly776GlufsTer21) c.1847_1860del (p.Gly616GlufsTer21) | ClinVar dbSNP |
| 12 | g.47981788A= | CA2034448508 | COL2A1 | c.2190T= (p.Ala730=) c.2397T= (p.Ala799=) n.575T= n.1483T= c.2541T= (p.Ala847=) c.2538T= (p.Ala846=) c.1485T= (p.Ala495=) n.208+362A= c.2331T= (p.Ala777=) c.1851T= (p.Ala617=) | |
| 12 | g.47981788A>C | CA479459232 | COL2A1 | c.2190T>G (p.Ala730=) c.2397T>G (p.Ala799=) n.575T>G n.1483T>G c.2541T>G (p.Ala847=) c.2538T>G (p.Ala846=) c.1485T>G (p.Ala495=) n.208+362A>C c.2331T>G (p.Ala777=) c.1851T>G (p.Ala617=) | dbSNP |
| 12 | g.47981788A>G | CA479459233 | COL2A1 | c.2190T>C (p.Ala730=) c.2397T>C (p.Ala799=) n.575T>C n.1483T>C c.2541T>C (p.Ala847=) c.2538T>C (p.Ala846=) c.1485T>C (p.Ala495=) n.208+362A>G c.2331T>C (p.Ala777=) c.1851T>C (p.Ala617=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47981788A>T | CA479459235 | COL2A1 | c.2190T>A (p.Ala730=) c.2397T>A (p.Ala799=) n.575T>A n.1483T>A c.2541T>A (p.Ala847=) c.2538T>A (p.Ala846=) c.1485T>A (p.Ala495=) n.208+362A>T c.2331T>A (p.Ala777=) c.1851T>A (p.Ala617=) | |
| 12 | g.47981789G>A | CA384545439 | COL2A1 | c.2189C>T (p.Ala730Val) c.2396C>T (p.Ala799Val) n.574C>T n.1482C>T c.2540C>T (p.Ala847Val) c.2537C>T (p.Ala846Val) c.1484C>T (p.Ala495Val) n.208+363G>A c.2330C>T (p.Ala777Val) c.1850C>T (p.Ala617Val) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47981789G>C | CA384545441 | COL2A1 | c.2189C>G (p.Ala730Gly) c.2396C>G (p.Ala799Gly) n.574C>G n.1482C>G c.2540C>G (p.Ala847Gly) c.2537C>G (p.Ala846Gly) c.1484C>G (p.Ala495Gly) n.208+363G>C c.2330C>G (p.Ala777Gly) c.1850C>G (p.Ala617Gly) | |
| 12 | g.47981789G= | CA2034448517 | COL2A1 | c.2189C= (p.Ala730=) c.2396C= (p.Ala799=) n.574C= n.1482C= c.2540C= (p.Ala847=) c.2537C= (p.Ala846=) c.1484C= (p.Ala495=) n.208+363G= c.2330C= (p.Ala777=) c.1850C= (p.Ala617=) | |
| 12 | g.47981789G>T | CA384545442 | COL2A1 | c.2189C>A (p.Ala730Asp) c.2396C>A (p.Ala799Asp) n.574C>A n.1482C>A c.2540C>A (p.Ala847Asp) c.2537C>A (p.Ala846Asp) c.1484C>A (p.Ala495Asp) n.208+363G>T c.2330C>A (p.Ala777Asp) c.1850C>A (p.Ala617Asp) | |
| 12 | g.47981790C>A | CA384545443 | COL2A1 | c.2188G>T (p.Ala730Ser) c.2395G>T (p.Ala799Ser) n.573G>T n.1481G>T c.2539G>T (p.Ala847Ser) c.2536G>T (p.Ala846Ser) c.1483G>T (p.Ala495Ser) n.208+364C>A c.2329G>T (p.Ala777Ser) c.1849G>T (p.Ala617Ser) | gnomAD v4 |
| 12 | g.47981790C= | CA2034448520 | COL2A1 | c.2188G= (p.Ala730=) c.2395G= (p.Ala799=) n.573G= n.1481G= c.2539G= (p.Ala847=) c.2536G= (p.Ala846=) c.1483G= (p.Ala495=) n.208+364C= c.2329G= (p.Ala777=) c.1849G= (p.Ala617=) | |
| 12 | g.47981790C>G | CA384545444 | COL2A1 | c.2188G>C (p.Ala730Pro) c.2395G>C (p.Ala799Pro) n.573G>C n.1481G>C c.2539G>C (p.Ala847Pro) c.2536G>C (p.Ala846Pro) c.1483G>C (p.Ala495Pro) n.208+364C>G c.2329G>C (p.Ala777Pro) c.1849G>C (p.Ala617Pro) | |
| 12 | g.47981790C>T | CA384545445 | COL2A1 | c.2188G>A (p.Ala730Thr) c.2395G>A (p.Ala799Thr) n.573G>A n.1481G>A c.2539G>A (p.Ala847Thr) c.2536G>A (p.Ala846Thr) c.1483G>A (p.Ala495Thr) n.208+364C>T c.2329G>A (p.Ala777Thr) c.1849G>A (p.Ala617Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47981791A= | CA2034448526 | COL2A1 | c.2187T= (p.Gly729=) c.2394T= (p.Gly798=) n.572T= n.1480T= c.2538T= (p.Gly846=) c.2535T= (p.Gly845=) c.1482T= (p.Gly494=) n.208+365A= c.2328T= (p.Gly776=) c.1848T= (p.Gly616=) | |
| 12 | g.47981791A>C | CA479459244 | COL2A1 | c.2187T>G (p.Gly729=) c.2394T>G (p.Gly798=) n.572T>G n.1480T>G c.2538T>G (p.Gly846=) c.2535T>G (p.Gly845=) c.1482T>G (p.Gly494=) n.208+365A>C c.2328T>G (p.Gly776=) c.1848T>G (p.Gly616=) | |
| 12 | g.47981791A>G | CA479459246 | COL2A1 | c.2187T>C (p.Gly729=) c.2394T>C (p.Gly798=) n.572T>C n.1480T>C c.2538T>C (p.Gly846=) c.2535T>C (p.Gly845=) c.1482T>C (p.Gly494=) n.208+365A>G c.2328T>C (p.Gly776=) c.1848T>C (p.Gly616=) | dbSNP gnomAD v4 |
| 12 | g.47981791A>T | CA479459248 | COL2A1 | c.2187T>A (p.Gly729=) c.2394T>A (p.Gly798=) n.572T>A n.1480T>A c.2538T>A (p.Gly846=) c.2535T>A (p.Gly845=) c.1482T>A (p.Gly494=) n.208+365A>T c.2328T>A (p.Gly776=) c.1848T>A (p.Gly616=) | |
| 12 | g.47981792C>A | CA384545447 | COL2A1 | c.2186G>T (p.Gly729Val) c.2393G>T (p.Gly798Val) n.571G>T n.1479G>T c.2537G>T (p.Gly846Val) c.2534G>T (p.Gly845Val) c.1481G>T (p.Gly494Val) n.208+366C>A c.2327G>T (p.Gly776Val) c.1847G>T (p.Gly616Val) | |
| 12 | g.47981792C= | CA2034448527 | COL2A1 | c.2186G= (p.Gly729=) c.2393G= (p.Gly798=) n.571G= n.1479G= c.2537G= (p.Gly846=) c.2534G= (p.Gly845=) c.1481G= (p.Gly494=) n.208+366C= c.2327G= (p.Gly776=) c.1847G= (p.Gly616=) | |
| 12 | g.47981792C>G | CA384545448 | COL2A1 | c.2186G>C (p.Gly729Ala) c.2393G>C (p.Gly798Ala) n.571G>C n.1479G>C c.2537G>C (p.Gly846Ala) c.2534G>C (p.Gly845Ala) c.1481G>C (p.Gly494Ala) n.208+366C>G c.2327G>C (p.Gly776Ala) c.1847G>C (p.Gly616Ala) | |
| 12 | g.47981792C>T | CA6535121 | COL2A1 | c.2186G>A (p.Gly729Asp) c.2393G>A (p.Gly798Asp) n.571G>A n.1479G>A c.2537G>A (p.Gly846Asp) c.2534G>A (p.Gly845Asp) c.1481G>A (p.Gly494Asp) n.208+366C>T c.2327G>A (p.Gly776Asp) c.1847G>A (p.Gly616Asp) | dbSNP ExAC gnomAD v4 |
| 12 | g.47981793del | CA2618513813 | COL2A1 | c.2186del (p.Gly729ValfsTer?) c.2393del (p.Gly798ValfsTer?) n.571del n.1479del c.2537del (p.Gly846ValfsTer?) c.2534del (p.Gly845ValfsTer?) c.1481del (p.Gly494ValfsTer?) n.208+367del c.2327del (p.Gly776ValfsTer?) c.1847del (p.Gly616ValfsTer?) | gnomAD v4 |
| 12 | g.47981793C>A | CA384545452 | COL2A1 | c.2185G>T (p.Gly729Cys) c.2392G>T (p.Gly798Cys) n.570G>T n.1478G>T c.2536G>T (p.Gly846Cys) c.2533G>T (p.Gly845Cys) c.1480G>T (p.Gly494Cys) n.208+367C>A c.2326G>T (p.Gly776Cys) c.1846G>T (p.Gly616Cys) | gnomAD v4 |
| 12 | g.47981793C>G | CA384545455 | COL2A1 | c.2185G>C (p.Gly729Arg) c.2392G>C (p.Gly798Arg) n.570G>C n.1478G>C c.2536G>C (p.Gly846Arg) c.2533G>C (p.Gly845Arg) c.1480G>C (p.Gly494Arg) n.208+367C>G c.2326G>C (p.Gly776Arg) c.1846G>C (p.Gly616Arg) | |
| 12 | g.47981793C>T | CA384545453 | COL2A1 | c.2185G>A (p.Gly729Ser) c.2392G>A (p.Gly798Ser) n.570G>A n.1478G>A c.2536G>A (p.Gly846Ser) c.2533G>A (p.Gly845Ser) c.1480G>A (p.Gly494Ser) n.208+367C>T c.2326G>A (p.Gly776Ser) c.1846G>A (p.Gly616Ser) | ClinVar dbSNP |
| 12 | g.47981794A>C | CA479459257 | COL2A1 | c.2184T>G (p.Ala728=) c.2391T>G (p.Ala797=) n.569T>G n.1477T>G c.2535T>G (p.Ala845=) c.2532T>G (p.Ala844=) c.1479T>G (p.Ala493=) n.208+368A>C c.2325T>G (p.Ala775=) c.1845T>G (p.Ala615=) | |
| 12 | g.47981794A>G | CA479459258 | COL2A1 | c.2184T>C (p.Ala728=) c.2391T>C (p.Ala797=) n.569T>C n.1477T>C c.2535T>C (p.Ala845=) c.2532T>C (p.Ala844=) c.1479T>C (p.Ala493=) n.208+368A>G c.2325T>C (p.Ala775=) c.1845T>C (p.Ala615=) | gnomAD v4 |
| 12 | g.47981794A>T | CA479459260 | COL2A1 | c.2184T>A (p.Ala728=) c.2391T>A (p.Ala797=) n.569T>A n.1477T>A c.2535T>A (p.Ala845=) c.2532T>A (p.Ala844=) c.1479T>A (p.Ala493=) n.208+368A>T c.2325T>A (p.Ala775=) c.1845T>A (p.Ala615=) | |
| 12 | g.47981795G>A | CA384545457 | COL2A1 | c.2183C>T (p.Ala728Val) c.2390C>T (p.Ala797Val) n.568C>T n.1476C>T c.2534C>T (p.Ala845Val) c.2531C>T (p.Ala844Val) c.1478C>T (p.Ala493Val) n.208+369G>A c.2324C>T (p.Ala775Val) c.1844C>T (p.Ala615Val) | |
| 12 | g.47981795G>C | CA384545458 | COL2A1 | c.2183C>G (p.Ala728Gly) c.2390C>G (p.Ala797Gly) n.568C>G n.1476C>G c.2534C>G (p.Ala845Gly) c.2531C>G (p.Ala844Gly) c.1478C>G (p.Ala493Gly) n.208+369G>C c.2324C>G (p.Ala775Gly) c.1844C>G (p.Ala615Gly) | |
| 12 | g.47981795G>T | CA384545460 | COL2A1 | c.2183C>A (p.Ala728Asp) c.2390C>A (p.Ala797Asp) n.568C>A n.1476C>A c.2534C>A (p.Ala845Asp) c.2531C>A (p.Ala844Asp) c.1478C>A (p.Ala493Asp) n.208+369G>T c.2324C>A (p.Ala775Asp) c.1844C>A (p.Ala615Asp) | gnomAD v4 |
| 12 | g.47981796C>A | CA384545462 | COL2A1 | c.2182G>T (p.Ala728Ser) c.2389G>T (p.Ala797Ser) n.567G>T n.1475G>T c.2533G>T (p.Ala845Ser) c.2530G>T (p.Ala844Ser) c.1477G>T (p.Ala493Ser) n.208+370C>A c.2323G>T (p.Ala775Ser) c.1843G>T (p.Ala615Ser) | gnomAD v4 |
| 12 | g.47981796C= | CA2034448532 | COL2A1 | c.2182G= (p.Ala728=) c.2389G= (p.Ala797=) n.567G= n.1475G= c.2533G= (p.Ala845=) c.2530G= (p.Ala844=) c.1477G= (p.Ala493=) n.208+370C= c.2323G= (p.Ala775=) c.1843G= (p.Ala615=) | |
| 12 | g.47981796C>G | CA384545463 | COL2A1 | c.2182G>C (p.Ala728Pro) c.2389G>C (p.Ala797Pro) n.567G>C n.1475G>C c.2533G>C (p.Ala845Pro) c.2530G>C (p.Ala844Pro) c.1477G>C (p.Ala493Pro) n.208+370C>G c.2323G>C (p.Ala775Pro) c.1843G>C (p.Ala615Pro) | gnomAD v4 |
| 12 | g.47981796C>T | CA384545465 | COL2A1 | c.2182G>A (p.Ala728Thr) c.2389G>A (p.Ala797Thr) n.567G>A n.1475G>A c.2533G>A (p.Ala845Thr) c.2530G>A (p.Ala844Thr) c.1477G>A (p.Ala493Thr) n.208+370C>T c.2323G>A (p.Ala775Thr) c.1843G>A (p.Ala615Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47981797T>A | CA479459268 | COL2A1 | c.2181A>T (p.Pro727=) c.2388A>T (p.Pro796=) n.566A>T n.1474A>T c.2532A>T (p.Pro844=) c.2529A>T (p.Pro843=) c.1476A>T (p.Pro492=) n.208+371T>A c.2322A>T (p.Pro774=) c.1842A>T (p.Pro614=) | |
| 12 | g.47981797T>C | CA479459269 | COL2A1 | c.2181A>G (p.Pro727=) c.2388A>G (p.Pro796=) n.566A>G n.1474A>G c.2532A>G (p.Pro844=) c.2529A>G (p.Pro843=) c.1476A>G (p.Pro492=) n.208+371T>C c.2322A>G (p.Pro774=) c.1842A>G (p.Pro614=) | gnomAD v4 |
| 12 | g.47981797T>G | CA479459271 | COL2A1 | c.2181A>C (p.Pro727=) c.2388A>C (p.Pro796=) n.566A>C n.1474A>C c.2532A>C (p.Pro844=) c.2529A>C (p.Pro843=) c.1476A>C (p.Pro492=) n.208+371T>G c.2322A>C (p.Pro774=) c.1842A>C (p.Pro614=) | |
| 12 | g.47981798G>A | CA6535122 | COL2A1 | c.2180C>T (p.Pro727Leu) c.2387C>T (p.Pro796Leu) n.565C>T n.1473C>T c.2531C>T (p.Pro844Leu) c.2528C>T (p.Pro843Leu) c.1475C>T (p.Pro492Leu) n.208+372G>A c.2321C>T (p.Pro774Leu) c.1841C>T (p.Pro614Leu) | dbSNP ExAC gnomAD v2 |
| 12 | g.47981798G>C | CA384545468 | COL2A1 | c.2180C>G (p.Pro727Arg) c.2387C>G (p.Pro796Arg) n.565C>G n.1473C>G c.2531C>G (p.Pro844Arg) c.2528C>G (p.Pro843Arg) c.1475C>G (p.Pro492Arg) n.208+372G>C c.2321C>G (p.Pro774Arg) c.1841C>G (p.Pro614Arg) | |
| 12 | g.47981798G= | CA2034448534 | COL2A1 | c.2180C= (p.Pro727=) c.2387C= (p.Pro796=) n.565C= n.1473C= c.2531C= (p.Pro844=) c.2528C= (p.Pro843=) c.1475C= (p.Pro492=) n.208+372G= c.2321C= (p.Pro774=) c.1841C= (p.Pro614=) | |
| 12 | g.47981798G>T | CA384545470 | COL2A1 | c.2180C>A (p.Pro727Gln) c.2387C>A (p.Pro796Gln) n.565C>A n.1473C>A c.2531C>A (p.Pro844Gln) c.2528C>A (p.Pro843Gln) c.1475C>A (p.Pro492Gln) n.208+372G>T c.2321C>A (p.Pro774Gln) c.1841C>A (p.Pro614Gln) | |
| 12 | g.47981799_47981817del | CA2573148587 | COL2A1 | c.2162_2180del (p.Pro721GlnfsTer?) c.2369_2387del (p.Pro790GlnfsTer?) n.547_565del n.1455_1473del c.2513_2531del (p.Pro838GlnfsTer?) c.2510_2528del (p.Pro837GlnfsTer?) c.1457_1475del (p.Pro486GlnfsTer?) n.208+373_208+391del c.2303_2321del (p.Pro768GlnfsTer?) c.1823_1841del (p.Pro608GlnfsTer?) | ClinVar dbSNP |
| 12 | g.47981799G>A | CA384545472 | COL2A1 | c.2179C>T (p.Pro727Ser) c.2386C>T (p.Pro796Ser) n.564C>T n.1472C>T c.2530C>T (p.Pro844Ser) c.2527C>T (p.Pro843Ser) c.1474C>T (p.Pro492Ser) n.208+373G>A c.2320C>T (p.Pro774Ser) c.1840C>T (p.Pro614Ser) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47981799G>C | CA384545473 | COL2A1 | c.2179C>G (p.Pro727Ala) c.2386C>G (p.Pro796Ala) n.564C>G n.1472C>G c.2530C>G (p.Pro844Ala) c.2527C>G (p.Pro843Ala) c.1474C>G (p.Pro492Ala) n.208+373G>C c.2320C>G (p.Pro774Ala) c.1840C>G (p.Pro614Ala) | |
| 12 | g.47981799G= | CA2034448536 | COL2A1 | c.2179C= (p.Pro727=) c.2386C= (p.Pro796=) n.564C= n.1472C= c.2530C= (p.Pro844=) c.2527C= (p.Pro843=) c.1474C= (p.Pro492=) n.208+373G= c.2320C= (p.Pro774=) c.1840C= (p.Pro614=) | |
| 12 | g.47981799G>T | CA384545474 | COL2A1 | c.2179C>A (p.Pro727Thr) c.2386C>A (p.Pro796Thr) n.564C>A n.1472C>A c.2530C>A (p.Pro844Thr) c.2527C>A (p.Pro843Thr) c.1474C>A (p.Pro492Thr) n.208+373G>T c.2320C>A (p.Pro774Thr) c.1840C>A (p.Pro614Thr) | |
| 12 | g.47981800G>A | CA479459285 | COL2A1 | c.2178C>T (p.Gly726=) c.2385C>T (p.Gly795=) n.563C>T n.1471C>T c.2529C>T (p.Gly843=) c.2526C>T (p.Gly842=) c.1473C>T (p.Gly491=) n.208+374G>A c.2319C>T (p.Gly773=) c.1839C>T (p.Gly613=) | ClinVar gnomAD v4 |
| 12 | g.47981800G>C | CA479459288 | COL2A1 | c.2178C>G (p.Gly726=) c.2385C>G (p.Gly795=) n.563C>G n.1471C>G c.2529C>G (p.Gly843=) c.2526C>G (p.Gly842=) c.1473C>G (p.Gly491=) n.208+374G>C c.2319C>G (p.Gly773=) c.1839C>G (p.Gly613=) | |
| 12 | g.47981800G>T | CA479459291 | COL2A1 | c.2178C>A (p.Gly726=) c.2385C>A (p.Gly795=) n.563C>A n.1471C>A c.2529C>A (p.Gly843=) c.2526C>A (p.Gly842=) c.1473C>A (p.Gly491=) n.208+374G>T c.2319C>A (p.Gly773=) c.1839C>A (p.Gly613=) | gnomAD v4 |