WARNING - Protein Allele ID and Protein Sequence HGVS API Requests Temporarily Disabled:
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
We are investigating the periodic unresponsiveness in the Registry.
Although replication attempts were unsuccessful, there is a high correlation with protein alleles. And with haplotype HGVS queries.
This temporarily affects the API and the UI.
| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| 12 | g.47982142C>A | CA384545736 | COL2A1 | c.2113G>T (p.Gly705Cys) c.2320G>T (p.Gly774Cys) n.498G>T n.1244G>T c.2464G>T (p.Gly822Cys) c.2461G>T (p.Gly821Cys) c.1408G>T (p.Gly470Cys) n.209-273C>A c.2254G>T (p.Gly752Cys) c.1774G>T (p.Gly592Cys) | |
| 12 | g.47982142C= | CA2034449175 | COL2A1 | c.2113G= (p.Gly705=) c.2320G= (p.Gly774=) n.498G= n.1244G= c.2464G= (p.Gly822=) c.2461G= (p.Gly821=) c.1408G= (p.Gly470=) n.209-273C= c.2254G= (p.Gly752=) c.1774G= (p.Gly592=) | |
| 12 | g.47982142C>G | CA384545737 | COL2A1 | c.2113G>C (p.Gly705Arg) c.2320G>C (p.Gly774Arg) n.498G>C n.1244G>C c.2464G>C (p.Gly822Arg) c.2461G>C (p.Gly821Arg) c.1408G>C (p.Gly470Arg) n.209-273C>G c.2254G>C (p.Gly752Arg) c.1774G>C (p.Gly592Arg) | |
| 12 | g.47982142C>T | CA250666 | COL2A1 | c.2113G>A (p.Gly705Ser) c.2320G>A (p.Gly774Ser) n.498G>A n.1244G>A c.2464G>A (p.Gly822Ser) c.2461G>A (p.Gly821Ser) c.1408G>A (p.Gly470Ser) n.209-273C>T c.2254G>A (p.Gly752Ser) c.1774G>A (p.Gly592Ser) | ClinVar dbSNP |
| 12 | g.47982143T>A | CA384545739 | COL2A1 | c.2112A>T (p.Lys704Asn) c.2319A>T (p.Lys773Asn) n.497A>T n.1243A>T c.2463A>T (p.Lys821Asn) c.2460A>T (p.Lys820Asn) c.1407A>T (p.Lys469Asn) n.209-272T>A c.2253A>T (p.Lys751Asn) c.1773A>T (p.Lys591Asn) | |
| 12 | g.47982143T>C | CA479460132 | COL2A1 | c.2112A>G (p.Lys704=) c.2319A>G (p.Lys773=) n.497A>G n.1243A>G c.2463A>G (p.Lys821=) c.2460A>G (p.Lys820=) c.1407A>G (p.Lys469=) n.209-272T>C c.2253A>G (p.Lys751=) c.1773A>G (p.Lys591=) | |
| 12 | g.47982143T>G | CA384545740 | COL2A1 | c.2112A>C (p.Lys704Asn) c.2319A>C (p.Lys773Asn) n.497A>C n.1243A>C c.2463A>C (p.Lys821Asn) c.2460A>C (p.Lys820Asn) c.1407A>C (p.Lys469Asn) n.209-272T>G c.2253A>C (p.Lys751Asn) c.1773A>C (p.Lys591Asn) | |
| 12 | g.47982144T>A | CA384545742 | COL2A1 | c.2111A>T (p.Lys704Ile) c.2318A>T (p.Lys773Ile) n.496A>T n.1242A>T c.2462A>T (p.Lys821Ile) c.2459A>T (p.Lys820Ile) c.1406A>T (p.Lys469Ile) n.209-271T>A c.2252A>T (p.Lys751Ile) c.1772A>T (p.Lys591Ile) | |
| 12 | g.47982144T>C | CA384545743 | COL2A1 | c.2111A>G (p.Lys704Arg) c.2318A>G (p.Lys773Arg) n.496A>G n.1242A>G c.2462A>G (p.Lys821Arg) c.2459A>G (p.Lys820Arg) c.1406A>G (p.Lys469Arg) n.209-271T>C c.2252A>G (p.Lys751Arg) c.1772A>G (p.Lys591Arg) | |
| 12 | g.47982144T>G | CA384545744 | COL2A1 | c.2111A>C (p.Lys704Thr) c.2318A>C (p.Lys773Thr) n.496A>C n.1242A>C c.2462A>C (p.Lys821Thr) c.2459A>C (p.Lys820Thr) c.1406A>C (p.Lys469Thr) n.209-271T>G c.2252A>C (p.Lys751Thr) c.1772A>C (p.Lys591Thr) | |
| 12 | g.47982145T>A | CA384545749 | COL2A1 | c.2110A>T (p.Lys704Ter) c.2317A>T (p.Lys773Ter) n.495A>T n.1241A>T c.2461A>T (p.Lys821Ter) c.2458A>T (p.Lys820Ter) c.1405A>T (p.Lys469Ter) n.209-270T>A c.2251A>T (p.Lys751Ter) c.1771A>T (p.Lys591Ter) | |
| 12 | g.47982145T>C | CA384545747 | COL2A1 | c.2110A>G (p.Lys704Glu) c.2317A>G (p.Lys773Glu) n.495A>G n.1241A>G c.2461A>G (p.Lys821Glu) c.2458A>G (p.Lys820Glu) c.1405A>G (p.Lys469Glu) n.209-270T>C c.2251A>G (p.Lys751Glu) c.1771A>G (p.Lys591Glu) | |
| 12 | g.47982145T>G | CA384545748 | COL2A1 | c.2110A>C (p.Lys704Gln) c.2317A>C (p.Lys773Gln) n.495A>C n.1241A>C c.2461A>C (p.Lys821Gln) c.2458A>C (p.Lys820Gln) c.1405A>C (p.Lys469Gln) n.209-270T>G c.2251A>C (p.Lys751Gln) c.1771A>C (p.Lys591Gln) | |
| 12 | g.47982146C>A | CA384545752 | COL2A1 | c.2109G>T (p.Glu703Asp) c.2316G>T (p.Glu772Asp) n.494G>T n.1240G>T c.2460G>T (p.Glu820Asp) c.2457G>T (p.Glu819Asp) c.1404G>T (p.Glu468Asp) n.209-269C>A c.2250G>T (p.Glu750Asp) c.1770G>T (p.Glu590Asp) | |
| 12 | g.47982146C>G | CA384545753 | COL2A1 | c.2109G>C (p.Glu703Asp) c.2316G>C (p.Glu772Asp) n.494G>C n.1240G>C c.2460G>C (p.Glu820Asp) c.2457G>C (p.Glu819Asp) c.1404G>C (p.Glu468Asp) n.209-269C>G c.2250G>C (p.Glu750Asp) c.1770G>C (p.Glu590Asp) | |
| 12 | g.47982146C>T | CA479460141 | COL2A1 | c.2109G>A (p.Glu703=) c.2316G>A (p.Glu772=) n.494G>A n.1240G>A c.2460G>A (p.Glu820=) c.2457G>A (p.Glu819=) c.1404G>A (p.Glu468=) n.209-269C>T c.2250G>A (p.Glu750=) c.1770G>A (p.Glu590=) | gnomAD v4 |
| 12 | g.47982147T>A | CA384545755 | COL2A1 | c.2108A>T (p.Glu703Val) c.2315A>T (p.Glu772Val) n.493A>T n.1239A>T c.2459A>T (p.Glu820Val) c.2456A>T (p.Glu819Val) c.1403A>T (p.Glu468Val) n.209-268T>A c.2249A>T (p.Glu750Val) c.1769A>T (p.Glu590Val) | gnomAD v4 |
| 12 | g.47982147T>C | CA384545756 | COL2A1 | c.2108A>G (p.Glu703Gly) c.2315A>G (p.Glu772Gly) n.493A>G n.1239A>G c.2459A>G (p.Glu820Gly) c.2456A>G (p.Glu819Gly) c.1403A>G (p.Glu468Gly) n.209-268T>C c.2249A>G (p.Glu750Gly) c.1769A>G (p.Glu590Gly) | dbSNP |
| 12 | g.47982147T>G | CA384545758 | COL2A1 | c.2108A>C (p.Glu703Ala) c.2315A>C (p.Glu772Ala) n.493A>C n.1239A>C c.2459A>C (p.Glu820Ala) c.2456A>C (p.Glu819Ala) c.1403A>C (p.Glu468Ala) n.209-268T>G c.2249A>C (p.Glu750Ala) c.1769A>C (p.Glu590Ala) | |
| 12 | g.47982147T= | CA2034449185 | COL2A1 | c.2108A= (p.Glu703=) c.2315A= (p.Glu772=) n.493A= n.1239A= c.2459A= (p.Glu820=) c.2456A= (p.Glu819=) c.1403A= (p.Glu468=) n.209-268T= c.2249A= (p.Glu750=) c.1769A= (p.Glu590=) | |
| 12 | g.47982148C>A | CA384545761 | COL2A1 | c.2107G>T (p.Glu703Ter) c.2314G>T (p.Glu772Ter) n.492G>T n.1238G>T c.2458G>T (p.Glu820Ter) c.2455G>T (p.Glu819Ter) c.1402G>T (p.Glu468Ter) n.209-267C>A c.2248G>T (p.Glu750Ter) c.1768G>T (p.Glu590Ter) | |
| 12 | g.47982148C>G | CA384545764 | COL2A1 | c.2107G>C (p.Glu703Gln) c.2314G>C (p.Glu772Gln) n.492G>C n.1238G>C c.2458G>C (p.Glu820Gln) c.2455G>C (p.Glu819Gln) c.1402G>C (p.Glu468Gln) n.209-267C>G c.2248G>C (p.Glu750Gln) c.1768G>C (p.Glu590Gln) | |
| 12 | g.47982148C>T | CA384545762 | COL2A1 | c.2107G>A (p.Glu703Lys) c.2314G>A (p.Glu772Lys) n.492G>A n.1238G>A c.2458G>A (p.Glu820Lys) c.2455G>A (p.Glu819Lys) c.1402G>A (p.Glu468Lys) n.209-267C>T c.2248G>A (p.Glu750Lys) c.1768G>A (p.Glu590Lys) | |
| 12 | g.47982149A>C | CA479460151 | COL2A1 | c.2106T>G (p.Gly702=) c.2313T>G (p.Gly771=) n.491T>G n.1237T>G c.2457T>G (p.Gly819=) c.2454T>G (p.Gly818=) c.1401T>G (p.Gly467=) n.209-266A>C c.2247T>G (p.Gly749=) c.1767T>G (p.Gly589=) | gnomAD v4 |
| 12 | g.47982149A>G | CA479460152 | COL2A1 | c.2106T>C (p.Gly702=) c.2313T>C (p.Gly771=) n.491T>C n.1237T>C c.2457T>C (p.Gly819=) c.2454T>C (p.Gly818=) c.1401T>C (p.Gly467=) n.209-266A>G c.2247T>C (p.Gly749=) c.1767T>C (p.Gly589=) | |
| 12 | g.47982149A>T | CA479460154 | COL2A1 | c.2106T>A (p.Gly702=) c.2313T>A (p.Gly771=) n.491T>A n.1237T>A c.2457T>A (p.Gly819=) c.2454T>A (p.Gly818=) c.1401T>A (p.Gly467=) n.209-266A>T c.2247T>A (p.Gly749=) c.1767T>A (p.Gly589=) | gnomAD v4 |
| 12 | g.47982150C>A | CA384545767 | COL2A1 | c.2105G>T (p.Gly702Val) c.2312G>T (p.Gly771Val) n.490G>T n.1236G>T c.2456G>T (p.Gly819Val) c.2453G>T (p.Gly818Val) c.1400G>T (p.Gly467Val) n.209-265C>A c.2246G>T (p.Gly749Val) c.1766G>T (p.Gly589Val) | |
| 12 | g.47982150C>G | CA384545771 | COL2A1 | c.2105G>C (p.Gly702Ala) c.2312G>C (p.Gly771Ala) n.490G>C n.1236G>C c.2456G>C (p.Gly819Ala) c.2453G>C (p.Gly818Ala) c.1400G>C (p.Gly467Ala) n.209-265C>G c.2246G>C (p.Gly749Ala) c.1766G>C (p.Gly589Ala) | ClinVar |
| 12 | g.47982150C>T | CA384545769 | COL2A1 | c.2105G>A (p.Gly702Asp) c.2312G>A (p.Gly771Asp) n.490G>A n.1236G>A c.2456G>A (p.Gly819Asp) c.2453G>A (p.Gly818Asp) c.1400G>A (p.Gly467Asp) n.209-265C>T c.2246G>A (p.Gly749Asp) c.1766G>A (p.Gly589Asp) | |
| 12 | g.47982151C>A | CA384545773 | COL2A1 | c.2104G>T (p.Gly702Cys) c.2311G>T (p.Gly771Cys) n.489G>T n.1235G>T c.2455G>T (p.Gly819Cys) c.2452G>T (p.Gly818Cys) c.1399G>T (p.Gly467Cys) n.209-264C>A c.2245G>T (p.Gly749Cys) c.1765G>T (p.Gly589Cys) | |
| 12 | g.47982151C>G | CA384545775 | COL2A1 | c.2104G>C (p.Gly702Arg) c.2311G>C (p.Gly771Arg) n.489G>C n.1235G>C c.2455G>C (p.Gly819Arg) c.2452G>C (p.Gly818Arg) c.1399G>C (p.Gly467Arg) n.209-264C>G c.2245G>C (p.Gly749Arg) c.1765G>C (p.Gly589Arg) | |
| 12 | g.47982151C>T | CA384545774 | COL2A1 | c.2104G>A (p.Gly702Ser) c.2311G>A (p.Gly771Ser) n.489G>A n.1235G>A c.2455G>A (p.Gly819Ser) c.2452G>A (p.Gly818Ser) c.1399G>A (p.Gly467Ser) n.209-264C>T c.2245G>A (p.Gly749Ser) c.1765G>A (p.Gly589Ser) | |
| 12 | g.47982152A>C | CA479460166 | COL2A1 | c.2103T>G (p.Val701=) c.2310T>G (p.Val770=) n.488T>G n.1234T>G c.2454T>G (p.Val818=) c.2451T>G (p.Val817=) c.1398T>G (p.Val466=) n.209-263A>C c.2244T>G (p.Val748=) c.1764T>G (p.Val588=) | |
| 12 | g.47982152A>G | CA479460164 | COL2A1 | c.2103T>C (p.Val701=) c.2310T>C (p.Val770=) n.488T>C n.1234T>C c.2454T>C (p.Val818=) c.2451T>C (p.Val817=) c.1398T>C (p.Val466=) n.209-263A>G c.2244T>C (p.Val748=) c.1764T>C (p.Val588=) | |
| 12 | g.47982152A>T | CA479460163 | COL2A1 | c.2103T>A (p.Val701=) c.2310T>A (p.Val770=) n.488T>A n.1234T>A c.2454T>A (p.Val818=) c.2451T>A (p.Val817=) c.1398T>A (p.Val466=) n.209-263A>T c.2244T>A (p.Val748=) c.1764T>A (p.Val588=) | |
| 12 | g.47982153A= | CA2034449191 | COL2A1 | c.2102T= (p.Val701=) c.2309T= (p.Val770=) n.487T= n.1233T= c.2453T= (p.Val818=) c.2450T= (p.Val817=) c.1397T= (p.Val466=) n.209-262A= c.2243T= (p.Val748=) c.1763T= (p.Val588=) | |
| 12 | g.47982153A>C | CA6535143 | COL2A1 | c.2102T>G (p.Val701Gly) c.2309T>G (p.Val770Gly) n.487T>G n.1233T>G c.2453T>G (p.Val818Gly) c.2450T>G (p.Val817Gly) c.1397T>G (p.Val466Gly) n.209-262A>C c.2243T>G (p.Val748Gly) c.1763T>G (p.Val588Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47982153A>G | CA384545779 | COL2A1 | c.2102T>C (p.Val701Ala) c.2309T>C (p.Val770Ala) n.487T>C n.1233T>C c.2453T>C (p.Val818Ala) c.2450T>C (p.Val817Ala) c.1397T>C (p.Val466Ala) n.209-262A>G c.2243T>C (p.Val748Ala) c.1763T>C (p.Val588Ala) | gnomAD v4 |
| 12 | g.47982153A>T | CA384545778 | COL2A1 | c.2102T>A (p.Val701Asp) c.2309T>A (p.Val770Asp) n.487T>A n.1233T>A c.2453T>A (p.Val818Asp) c.2450T>A (p.Val817Asp) c.1397T>A (p.Val466Asp) n.209-262A>T c.2243T>A (p.Val748Asp) c.1763T>A (p.Val588Asp) | gnomAD v4 |
| 12 | g.47982155_47982159del | CA2573148589 | COL2A1 | c.2098_2102del (p.Asp700TrpfsTer2) c.2305_2309del (p.Asp769TrpfsTer2) n.483_487del n.1229_1233del c.2449_2453del (p.Asp817TrpfsTer2) c.2446_2450del (p.Asp816TrpfsTer2) c.1393_1397del (p.Asp465TrpfsTer2) n.209-260_209-256del c.2239_2243del (p.Asp747TrpfsTer2) c.1759_1763del (p.Asp587TrpfsTer2) | ClinVar dbSNP |
| 12 | g.47982154C>A | CA236524249 | COL2A1 | c.2101G>T (p.Val701Phe) c.2308G>T (p.Val770Phe) n.486G>T n.1232G>T c.2452G>T (p.Val818Phe) c.2449G>T (p.Val817Phe) c.1396G>T (p.Val466Phe) n.209-261C>A c.2242G>T (p.Val748Phe) c.1762G>T (p.Val588Phe) | dbSNP |
| 12 | g.47982154C= | CA2034449197 | COL2A1 | c.2101G= (p.Val701=) c.2308G= (p.Val770=) n.486G= n.1232G= c.2452G= (p.Val818=) c.2449G= (p.Val817=) c.1396G= (p.Val466=) n.209-261C= c.2242G= (p.Val748=) c.1762G= (p.Val588=) | |
| 12 | g.47982154C>G | CA384545784 | COL2A1 | c.2101G>C (p.Val701Leu) c.2308G>C (p.Val770Leu) n.486G>C n.1232G>C c.2452G>C (p.Val818Leu) c.2449G>C (p.Val817Leu) c.1396G>C (p.Val466Leu) n.209-261C>G c.2242G>C (p.Val748Leu) c.1762G>C (p.Val588Leu) | |
| 12 | g.47982154C>T | CA6535144 | COL2A1 | c.2101G>A (p.Val701Ile) c.2308G>A (p.Val770Ile) n.486G>A n.1232G>A c.2452G>A (p.Val818Ile) c.2449G>A (p.Val817Ile) c.1396G>A (p.Val466Ile) n.209-261C>T c.2242G>A (p.Val748Ile) c.1762G>A (p.Val588Ile) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47982155G>A | CA6535145 | COL2A1 | c.2100C>T (p.Asp700=) c.2307C>T (p.Asp769=) n.485C>T n.1231C>T c.2451C>T (p.Asp817=) c.2448C>T (p.Asp816=) c.1395C>T (p.Asp465=) n.209-260G>A c.2241C>T (p.Asp747=) c.1761C>T (p.Asp587=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47982155G>C | CA384545787 | COL2A1 | c.2100C>G (p.Asp700Glu) c.2307C>G (p.Asp769Glu) n.485C>G n.1231C>G c.2451C>G (p.Asp817Glu) c.2448C>G (p.Asp816Glu) c.1395C>G (p.Asp465Glu) n.209-260G>C c.2241C>G (p.Asp747Glu) c.1761C>G (p.Asp587Glu) | |
| 12 | g.47982155G= | CA2034449206 | COL2A1 | c.2100C= (p.Asp700=) c.2307C= (p.Asp769=) n.485C= n.1231C= c.2451C= (p.Asp817=) c.2448C= (p.Asp816=) c.1395C= (p.Asp465=) n.209-260G= c.2241C= (p.Asp747=) c.1761C= (p.Asp587=) | |
| 12 | g.47982155G>T | CA384545789 | COL2A1 | c.2100C>A (p.Asp700Glu) c.2307C>A (p.Asp769Glu) n.485C>A n.1231C>A c.2451C>A (p.Asp817Glu) c.2448C>A (p.Asp816Glu) c.1395C>A (p.Asp465Glu) n.209-260G>T c.2241C>A (p.Asp747Glu) c.1761C>A (p.Asp587Glu) | gnomAD v4 |
| 12 | g.47982156T>A | CA384545791 | COL2A1 | c.2099A>T (p.Asp700Val) c.2306A>T (p.Asp769Val) n.484A>T n.1230A>T c.2450A>T (p.Asp817Val) c.2447A>T (p.Asp816Val) c.1394A>T (p.Asp465Val) n.209-259T>A c.2240A>T (p.Asp747Val) c.1760A>T (p.Asp587Val) | |
| 12 | g.47982156T>C | CA384545792 | COL2A1 | c.2099A>G (p.Asp700Gly) c.2306A>G (p.Asp769Gly) n.484A>G n.1230A>G c.2450A>G (p.Asp817Gly) c.2447A>G (p.Asp816Gly) c.1394A>G (p.Asp465Gly) n.209-259T>C c.2240A>G (p.Asp747Gly) c.1760A>G (p.Asp587Gly) | gnomAD v4 |