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.47983552_47986872del | CA658797886 | COL2A1 | c.1181_1789-108del c.1388_1996-108del n.312_920-108del c.1532_2140-108del c.1529_2137-108del c.476_1084-108del c.1322_1930-108del c.842_1450-108del | ClinVar |
| 12 | g.47985771C>A | CA250704 | COL2A1 | c.1430G>T (p.Gly477Val) c.1637G>T (p.Gly546Val) n.561G>T c.1781G>T (p.Gly594Val) c.1778G>T (p.Gly593Val) c.725G>T (p.Gly242Val) c.1571G>T (p.Gly524Val) c.1091G>T (p.Gly364Val) | ClinVar dbSNP |
| 12 | g.47985771C= | CA2034455835 | COL2A1 | c.1430G= (p.Gly477=) c.1637G= (p.Gly546=) n.561G= c.1781G= (p.Gly594=) c.1778G= (p.Gly593=) c.725G= (p.Gly242=) c.1571G= (p.Gly524=) c.1091G= (p.Gly364=) | |
| 12 | g.47985771C>G | CA384551550 | COL2A1 | c.1430G>C (p.Gly477Ala) c.1637G>C (p.Gly546Ala) n.561G>C c.1781G>C (p.Gly594Ala) c.1778G>C (p.Gly593Ala) c.725G>C (p.Gly242Ala) c.1571G>C (p.Gly524Ala) c.1091G>C (p.Gly364Ala) | |
| 12 | g.47985771C>T | CA384551552 | COL2A1 | c.1430G>A (p.Gly477Asp) c.1637G>A (p.Gly546Asp) n.561G>A c.1781G>A (p.Gly594Asp) c.1778G>A (p.Gly593Asp) c.725G>A (p.Gly242Asp) c.1571G>A (p.Gly524Asp) c.1091G>A (p.Gly364Asp) | |
| 12 | g.47985772C>A | CA384551554 | COL2A1 | c.1429G>T (p.Gly477Cys) c.1636G>T (p.Gly546Cys) n.560G>T c.1780G>T (p.Gly594Cys) c.1777G>T (p.Gly593Cys) c.724G>T (p.Gly242Cys) c.1570G>T (p.Gly524Cys) c.1090G>T (p.Gly364Cys) | |
| 12 | g.47985772C= | CA2034455850 | COL2A1 | c.1429G= (p.Gly477=) c.1636G= (p.Gly546=) n.560G= c.1780G= (p.Gly594=) c.1777G= (p.Gly593=) c.724G= (p.Gly242=) c.1570G= (p.Gly524=) c.1090G= (p.Gly364=) | |
| 12 | g.47985772C>G | CA384551555 | COL2A1 | c.1429G>C (p.Gly477Arg) c.1636G>C (p.Gly546Arg) n.560G>C c.1780G>C (p.Gly594Arg) c.1777G>C (p.Gly593Arg) c.724G>C (p.Gly242Arg) c.1570G>C (p.Gly524Arg) c.1090G>C (p.Gly364Arg) | |
| 12 | g.47985772C>T | CA10606903 | COL2A1 | c.1429G>A (p.Gly477Ser) c.1636G>A (p.Gly546Ser) n.560G>A c.1780G>A (p.Gly594Ser) c.1777G>A (p.Gly593Ser) c.724G>A (p.Gly242Ser) c.1570G>A (p.Gly524Ser) c.1090G>A (p.Gly364Ser) | ClinVar dbSNP |
| 12 | g.47985773G>A | CA6535433 | COL2A1 | c.1428C>T (p.Asn476=) c.1635C>T (p.Asn545=) n.559C>T c.1779C>T (p.Asn593=) c.1776C>T (p.Asn592=) c.723C>T (p.Asn241=) c.1569C>T (p.Asn523=) c.1089C>T (p.Asn363=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47985773G>C | CA384551558 | COL2A1 | c.1428C>G (p.Asn476Lys) c.1635C>G (p.Asn545Lys) n.559C>G c.1779C>G (p.Asn593Lys) c.1776C>G (p.Asn592Lys) c.723C>G (p.Asn241Lys) c.1569C>G (p.Asn523Lys) c.1089C>G (p.Asn363Lys) | |
| 12 | g.47985773G= | CA2034455859 | COL2A1 | c.1428C= (p.Asn476=) c.1635C= (p.Asn545=) n.559C= c.1779C= (p.Asn593=) c.1776C= (p.Asn592=) c.723C= (p.Asn241=) c.1569C= (p.Asn523=) c.1089C= (p.Asn363=) | |
| 12 | g.47985773G>T | CA6535434 | COL2A1 | c.1428C>A (p.Asn476Lys) c.1635C>A (p.Asn545Lys) n.559C>A c.1779C>A (p.Asn593Lys) c.1776C>A (p.Asn592Lys) c.723C>A (p.Asn241Lys) c.1569C>A (p.Asn523Lys) c.1089C>A (p.Asn363Lys) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47985774T>A | CA384551561 | COL2A1 | c.1427A>T (p.Asn476Ile) c.1634A>T (p.Asn545Ile) n.558A>T c.1778A>T (p.Asn593Ile) c.1775A>T (p.Asn592Ile) c.722A>T (p.Asn241Ile) c.1568A>T (p.Asn523Ile) c.1088A>T (p.Asn363Ile) | |
| 12 | g.47985774T>C | CA6535435 | COL2A1 | c.1427A>G (p.Asn476Ser) c.1634A>G (p.Asn545Ser) n.558A>G c.1778A>G (p.Asn593Ser) c.1775A>G (p.Asn592Ser) c.722A>G (p.Asn241Ser) c.1568A>G (p.Asn523Ser) c.1088A>G (p.Asn363Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47985774T>G | CA384551562 | COL2A1 | c.1427A>C (p.Asn476Thr) c.1634A>C (p.Asn545Thr) n.558A>C c.1778A>C (p.Asn593Thr) c.1775A>C (p.Asn592Thr) c.722A>C (p.Asn241Thr) c.1568A>C (p.Asn523Thr) c.1088A>C (p.Asn363Thr) | |
| 12 | g.47985774T= | CA2034455878 | COL2A1 | c.1427A= (p.Asn476=) c.1634A= (p.Asn545=) n.558A= c.1778A= (p.Asn593=) c.1775A= (p.Asn592=) c.722A= (p.Asn241=) c.1568A= (p.Asn523=) c.1088A= (p.Asn363=) | |
| 12 | g.47985775T>A | CA384551565 | COL2A1 | c.1426A>T (p.Asn476Tyr) c.1633A>T (p.Asn545Tyr) n.557A>T c.1777A>T (p.Asn593Tyr) c.1774A>T (p.Asn592Tyr) c.721A>T (p.Asn241Tyr) c.1567A>T (p.Asn523Tyr) c.1087A>T (p.Asn363Tyr) | |
| 12 | g.47985775T>C | CA384551566 | COL2A1 | c.1426A>G (p.Asn476Asp) c.1633A>G (p.Asn545Asp) n.557A>G c.1777A>G (p.Asn593Asp) c.1774A>G (p.Asn592Asp) c.721A>G (p.Asn241Asp) c.1567A>G (p.Asn523Asp) c.1087A>G (p.Asn363Asp) | |
| 12 | g.47985775T>G | CA384551568 | COL2A1 | c.1426A>C (p.Asn476His) c.1633A>C (p.Asn545His) n.557A>C c.1777A>C (p.Asn593His) c.1774A>C (p.Asn592His) c.721A>C (p.Asn241His) c.1567A>C (p.Asn523His) c.1087A>C (p.Asn363His) | |
| 12 | g.47985775_47985776delinsTG | CA2034455889 | COL2A1 | c.1425_1426delinsCA (p.Ala475=) c.1632_1633delinsCA (p.Ala544=) n.556_557delinsCA c.1776_1777delinsCA (p.Ala592=) c.1773_1774delinsCA (p.Ala591=) c.720_721delinsCA (p.Ala240=) c.1566_1567delinsCA (p.Ala522=) c.1086_1087delinsCA (p.Ala362=) | |
| 12 | g.47985776G>A | CA479468963 | COL2A1 | c.1425C>T (p.Ala475=) c.1632C>T (p.Ala544=) n.556C>T c.1776C>T (p.Ala592=) c.1773C>T (p.Ala591=) c.720C>T (p.Ala240=) c.1566C>T (p.Ala522=) c.1086C>T (p.Ala362=) | gnomAD v4 |
| 12 | g.47985776G>C | CA479468961 | COL2A1 | c.1425C>G (p.Ala475=) c.1632C>G (p.Ala544=) n.556C>G c.1776C>G (p.Ala592=) c.1773C>G (p.Ala591=) c.720C>G (p.Ala240=) c.1566C>G (p.Ala522=) c.1086C>G (p.Ala362=) | |
| 12 | g.47985776G>T | CA479468959 | COL2A1 | c.1425C>A (p.Ala475=) c.1632C>A (p.Ala544=) n.556C>A c.1776C>A (p.Ala592=) c.1773C>A (p.Ala591=) c.720C>A (p.Ala240=) c.1566C>A (p.Ala522=) c.1086C>A (p.Ala362=) | |
| 12 | g.47985777del | CA6535436 | COL2A1 | c.1425del (p.Asn476ThrfsTer?) c.1632del (p.Asn545ThrfsTer?) n.556del c.1776del (p.Asn593ThrfsTer?) c.1773del (p.Asn592ThrfsTer?) c.720del (p.Asn241ThrfsTer?) c.1566del (p.Asn523ThrfsTer?) c.1086del (p.Asn363ThrfsTer?) | dbSNP ExAC gnomAD v2 |
| 12 | g.47985777G>A | CA384551571 | COL2A1 | c.1424C>T (p.Ala475Val) c.1631C>T (p.Ala544Val) n.555C>T c.1775C>T (p.Ala592Val) c.1772C>T (p.Ala591Val) c.719C>T (p.Ala240Val) c.1565C>T (p.Ala522Val) c.1085C>T (p.Ala362Val) | |
| 12 | g.47985777G>C | CA384551573 | COL2A1 | c.1424C>G (p.Ala475Gly) c.1631C>G (p.Ala544Gly) n.555C>G c.1775C>G (p.Ala592Gly) c.1772C>G (p.Ala591Gly) c.719C>G (p.Ala240Gly) c.1565C>G (p.Ala522Gly) c.1085C>G (p.Ala362Gly) | |
| 12 | g.47985777G>T | CA384551575 | COL2A1 | c.1424C>A (p.Ala475Asp) c.1631C>A (p.Ala544Asp) n.555C>A c.1775C>A (p.Ala592Asp) c.1772C>A (p.Ala591Asp) c.719C>A (p.Ala240Asp) c.1565C>A (p.Ala522Asp) c.1085C>A (p.Ala362Asp) | gnomAD v4 |
| 12 | g.47985778C>A | CA384551578 | COL2A1 | c.1423G>T (p.Ala475Ser) c.1630G>T (p.Ala544Ser) n.554G>T c.1774G>T (p.Ala592Ser) c.1771G>T (p.Ala591Ser) c.718G>T (p.Ala240Ser) c.1564G>T (p.Ala522Ser) c.1084G>T (p.Ala362Ser) | dbSNP |
| 12 | g.47985778C= | CA2034455897 | COL2A1 | c.1423G= (p.Ala475=) c.1630G= (p.Ala544=) n.554G= c.1774G= (p.Ala592=) c.1771G= (p.Ala591=) c.718G= (p.Ala240=) c.1564G= (p.Ala522=) c.1084G= (p.Ala362=) | |
| 12 | g.47985778C>G | CA384551580 | COL2A1 | c.1423G>C (p.Ala475Pro) c.1630G>C (p.Ala544Pro) n.554G>C c.1774G>C (p.Ala592Pro) c.1771G>C (p.Ala591Pro) c.718G>C (p.Ala240Pro) c.1564G>C (p.Ala522Pro) c.1084G>C (p.Ala362Pro) | |
| 12 | g.47985778C>T | CA6535437 | COL2A1 | c.1423G>A (p.Ala475Thr) c.1630G>A (p.Ala544Thr) n.554G>A c.1774G>A (p.Ala592Thr) c.1771G>A (p.Ala591Thr) c.718G>A (p.Ala240Thr) c.1564G>A (p.Ala522Thr) c.1084G>A (p.Ala362Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47985779T>A | CA479468980 | COL2A1 | c.1422A>T (p.Gly474=) c.1629A>T (p.Gly543=) n.553A>T c.1773A>T (p.Gly591=) c.1770A>T (p.Gly590=) c.717A>T (p.Gly239=) c.1563A>T (p.Gly521=) c.1083A>T (p.Gly361=) | |
| 12 | g.47985779T>C | CA479468977 | COL2A1 | c.1422A>G (p.Gly474=) c.1629A>G (p.Gly543=) n.553A>G c.1773A>G (p.Gly591=) c.1770A>G (p.Gly590=) c.717A>G (p.Gly239=) c.1563A>G (p.Gly521=) c.1083A>G (p.Gly361=) | |
| 12 | g.47985779T>G | CA479468975 | COL2A1 | c.1422A>C (p.Gly474=) c.1629A>C (p.Gly543=) n.553A>C c.1773A>C (p.Gly591=) c.1770A>C (p.Gly590=) c.717A>C (p.Gly239=) c.1563A>C (p.Gly521=) c.1083A>C (p.Gly361=) | gnomAD v4 |
| 12 | g.47985780C>A | CA384551582 | COL2A1 | c.1421G>T (p.Gly474Val) c.1628G>T (p.Gly543Val) n.552G>T c.1772G>T (p.Gly591Val) c.1769G>T (p.Gly590Val) c.716G>T (p.Gly239Val) c.1562G>T (p.Gly521Val) c.1082G>T (p.Gly361Val) | |
| 12 | g.47985780C>G | CA384551583 | COL2A1 | c.1421G>C (p.Gly474Ala) c.1628G>C (p.Gly543Ala) n.552G>C c.1772G>C (p.Gly591Ala) c.1769G>C (p.Gly590Ala) c.716G>C (p.Gly239Ala) c.1562G>C (p.Gly521Ala) c.1082G>C (p.Gly361Ala) | |
| 12 | g.47985780C>T | CA384551585 | COL2A1 | c.1421G>A (p.Gly474Glu) c.1628G>A (p.Gly543Glu) n.552G>A c.1772G>A (p.Gly591Glu) c.1769G>A (p.Gly590Glu) c.716G>A (p.Gly239Glu) c.1562G>A (p.Gly521Glu) c.1082G>A (p.Gly361Glu) | COSMIC COSMIC |
| 12 | g.47985781C>A | CA384551587 | COL2A1 | c.1420G>T (p.Gly474Ter) c.1627G>T (p.Gly543Ter) n.551G>T c.1771G>T (p.Gly591Ter) c.1768G>T (p.Gly590Ter) c.715G>T (p.Gly239Ter) c.1561G>T (p.Gly521Ter) c.1081G>T (p.Gly361Ter) | |
| 12 | g.47985781C>G | CA384551588 | COL2A1 | c.1420G>C (p.Gly474Arg) c.1627G>C (p.Gly543Arg) n.551G>C c.1771G>C (p.Gly591Arg) c.1768G>C (p.Gly590Arg) c.715G>C (p.Gly239Arg) c.1561G>C (p.Gly521Arg) c.1081G>C (p.Gly361Arg) | |
| 12 | g.47985781C>T | CA384551590 | COL2A1 | c.1420G>A (p.Gly474Arg) c.1627G>A (p.Gly543Arg) n.551G>A c.1771G>A (p.Gly591Arg) c.1768G>A (p.Gly590Arg) c.715G>A (p.Gly239Arg) c.1561G>A (p.Gly521Arg) c.1081G>A (p.Gly361Arg) | COSMIC COSMIC |
| 12 | g.47985782C>A | CA384551592 | COL2A1 | c.1419G>T (p.Lys473Asn) c.1626G>T (p.Lys542Asn) n.550G>T c.1770G>T (p.Lys590Asn) c.1767G>T (p.Lys589Asn) c.714G>T (p.Lys238Asn) c.1560G>T (p.Lys520Asn) c.1080G>T (p.Lys360Asn) | |
| 12 | g.47985782C>G | CA384551593 | COL2A1 | c.1419G>C (p.Lys473Asn) c.1626G>C (p.Lys542Asn) n.550G>C c.1770G>C (p.Lys590Asn) c.1767G>C (p.Lys589Asn) c.714G>C (p.Lys238Asn) c.1560G>C (p.Lys520Asn) c.1080G>C (p.Lys360Asn) | |
| 12 | g.47985782C>T | CA479468992 | COL2A1 | c.1419G>A (p.Lys473=) c.1626G>A (p.Lys542=) n.550G>A c.1770G>A (p.Lys590=) c.1767G>A (p.Lys589=) c.714G>A (p.Lys238=) c.1560G>A (p.Lys520=) c.1080G>A (p.Lys360=) | |
| 12 | g.47985783T>A | CA384551595 | COL2A1 | c.1418A>T (p.Lys473Met) c.1625A>T (p.Lys542Met) n.549A>T c.1769A>T (p.Lys590Met) c.1766A>T (p.Lys589Met) c.713A>T (p.Lys238Met) c.1559A>T (p.Lys520Met) c.1079A>T (p.Lys360Met) | |
| 12 | g.47985783T>C | CA384551596 | COL2A1 | c.1418A>G (p.Lys473Arg) c.1625A>G (p.Lys542Arg) n.549A>G c.1769A>G (p.Lys590Arg) c.1766A>G (p.Lys589Arg) c.713A>G (p.Lys238Arg) c.1559A>G (p.Lys520Arg) c.1079A>G (p.Lys360Arg) | |
| 12 | g.47985783T>G | CA384551597 | COL2A1 | c.1418A>C (p.Lys473Thr) c.1625A>C (p.Lys542Thr) n.549A>C c.1769A>C (p.Lys590Thr) c.1766A>C (p.Lys589Thr) c.713A>C (p.Lys238Thr) c.1559A>C (p.Lys520Thr) c.1079A>C (p.Lys360Thr) | gnomAD v4 |
| 12 | g.47985784T>A | CA384551600 | COL2A1 | c.1417A>T (p.Lys473Ter) c.1624A>T (p.Lys542Ter) n.548A>T c.1768A>T (p.Lys590Ter) c.1765A>T (p.Lys589Ter) c.712A>T (p.Lys238Ter) c.1558A>T (p.Lys520Ter) c.1078A>T (p.Lys360Ter) | |
| 12 | g.47985784T>C | CA384551601 | COL2A1 | c.1417A>G (p.Lys473Glu) c.1624A>G (p.Lys542Glu) n.548A>G c.1768A>G (p.Lys590Glu) c.1765A>G (p.Lys589Glu) c.712A>G (p.Lys238Glu) c.1558A>G (p.Lys520Glu) c.1078A>G (p.Lys360Glu) | |
| 12 | g.47985784T>G | CA384551603 | COL2A1 | c.1417A>C (p.Lys473Gln) c.1624A>C (p.Lys542Gln) n.548A>C c.1768A>C (p.Lys590Gln) c.1765A>C (p.Lys589Gln) c.712A>C (p.Lys238Gln) c.1558A>C (p.Lys520Gln) c.1078A>C (p.Lys360Gln) |