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.47985574C>A | CA236527397 | COL2A1 | c.1487G>T (p.Arg496Leu) c.1694G>T (p.Arg565Leu) n.618G>T c.1838G>T (p.Arg613Leu) c.1835G>T (p.Arg612Leu) c.782G>T (p.Arg261Leu) c.1628G>T (p.Arg543Leu) c.1148G>T (p.Arg383Leu) | dbSNP gnomAD v4 |
| 12 | g.47985574C= | CA2034455443 | COL2A1 | c.1487G= (p.Arg496=) c.1694G= (p.Arg565=) n.618G= c.1838G= (p.Arg613=) c.1835G= (p.Arg612=) c.782G= (p.Arg261=) c.1628G= (p.Arg543=) c.1148G= (p.Arg383=) | |
| 12 | g.47985574C>G | CA384551162 | COL2A1 | c.1487G>C (p.Arg496Pro) c.1694G>C (p.Arg565Pro) n.618G>C c.1838G>C (p.Arg613Pro) c.1835G>C (p.Arg612Pro) c.782G>C (p.Arg261Pro) c.1628G>C (p.Arg543Pro) c.1148G>C (p.Arg383Pro) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47985574C>T | CA6535407 | COL2A1 | c.1487G>A (p.Arg496His) c.1694G>A (p.Arg565His) n.618G>A c.1838G>A (p.Arg613His) c.1835G>A (p.Arg612His) c.782G>A (p.Arg261His) c.1628G>A (p.Arg543His) c.1148G>A (p.Arg383His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47985575G>A | CA281746 | COL2A1 | c.1486C>T (p.Arg496Cys) c.1693C>T (p.Arg565Cys) n.617C>T c.1837C>T (p.Arg613Cys) c.1834C>T (p.Arg612Cys) c.781C>T (p.Arg261Cys) c.1627C>T (p.Arg543Cys) c.1147C>T (p.Arg383Cys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 12 | g.47985575G>C | CA384551168 | COL2A1 | c.1486C>G (p.Arg496Gly) c.1693C>G (p.Arg565Gly) n.617C>G c.1837C>G (p.Arg613Gly) c.1834C>G (p.Arg612Gly) c.781C>G (p.Arg261Gly) c.1627C>G (p.Arg543Gly) c.1147C>G (p.Arg383Gly) | |
| 12 | g.47985575G= | CA2034455448 | COL2A1 | c.1486C= (p.Arg496=) c.1693C= (p.Arg565=) n.617C= c.1837C= (p.Arg613=) c.1834C= (p.Arg612=) c.781C= (p.Arg261=) c.1627C= (p.Arg543=) c.1147C= (p.Arg383=) | |
| 12 | g.47985575G>T | CA384551170 | COL2A1 | c.1486C>A (p.Arg496Ser) c.1693C>A (p.Arg565Ser) n.617C>A c.1837C>A (p.Arg613Ser) c.1834C>A (p.Arg612Ser) c.781C>A (p.Arg261Ser) c.1627C>A (p.Arg543Ser) c.1147C>A (p.Arg383Ser) | |
| 12 | g.47985576G>A | CA479468581 | COL2A1 | c.1485C>T (p.Gly495=) c.1692C>T (p.Gly564=) n.616C>T c.1836C>T (p.Gly612=) c.1833C>T (p.Gly611=) c.780C>T (p.Gly260=) c.1626C>T (p.Gly542=) c.1146C>T (p.Gly382=) | |
| 12 | g.47985576G>C | CA479468585 | COL2A1 | c.1485C>G (p.Gly495=) c.1692C>G (p.Gly564=) n.616C>G c.1836C>G (p.Gly612=) c.1833C>G (p.Gly611=) c.780C>G (p.Gly260=) c.1626C>G (p.Gly542=) c.1146C>G (p.Gly382=) | |
| 12 | g.47985576G= | CA2034455458 | COL2A1 | c.1485C= (p.Gly495=) c.1692C= (p.Gly564=) n.616C= c.1836C= (p.Gly612=) c.1833C= (p.Gly611=) c.780C= (p.Gly260=) c.1626C= (p.Gly542=) c.1146C= (p.Gly382=) | |
| 12 | g.47985576G>T | CA6535408 | COL2A1 | c.1485C>A (p.Gly495=) c.1692C>A (p.Gly564=) n.616C>A c.1836C>A (p.Gly612=) c.1833C>A (p.Gly611=) c.780C>A (p.Gly260=) c.1626C>A (p.Gly542=) c.1146C>A (p.Gly382=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47985577C>A | CA384551176 | COL2A1 | c.1484G>T (p.Gly495Val) c.1691G>T (p.Gly564Val) n.615G>T c.1835G>T (p.Gly612Val) c.1832G>T (p.Gly611Val) c.779G>T (p.Gly260Val) c.1625G>T (p.Gly542Val) c.1145G>T (p.Gly382Val) | |
| 12 | g.47985577C>G | CA384551181 | COL2A1 | c.1484G>C (p.Gly495Ala) c.1691G>C (p.Gly564Ala) n.615G>C c.1835G>C (p.Gly612Ala) c.1832G>C (p.Gly611Ala) c.779G>C (p.Gly260Ala) c.1625G>C (p.Gly542Ala) c.1145G>C (p.Gly382Ala) | |
| 12 | g.47985577C>T | CA384551178 | COL2A1 | c.1484G>A (p.Gly495Asp) c.1691G>A (p.Gly564Asp) n.615G>A c.1835G>A (p.Gly612Asp) c.1832G>A (p.Gly611Asp) c.779G>A (p.Gly260Asp) c.1625G>A (p.Gly542Asp) c.1145G>A (p.Gly382Asp) | |
| 12 | g.47985578C>A | CA384551185 | COL2A1 | c.1483G>T (p.Gly495Cys) c.1690G>T (p.Gly564Cys) n.614G>T c.1834G>T (p.Gly612Cys) c.1831G>T (p.Gly611Cys) c.778G>T (p.Gly260Cys) c.1624G>T (p.Gly542Cys) c.1144G>T (p.Gly382Cys) | |
| 12 | g.47985578C>G | CA384551191 | COL2A1 | c.1483G>C (p.Gly495Arg) c.1690G>C (p.Gly564Arg) n.614G>C c.1834G>C (p.Gly612Arg) c.1831G>C (p.Gly611Arg) c.778G>C (p.Gly260Arg) c.1624G>C (p.Gly542Arg) c.1144G>C (p.Gly382Arg) | |
| 12 | g.47985578C>T | CA384551188 | COL2A1 | c.1483G>A (p.Gly495Ser) c.1690G>A (p.Gly564Ser) n.614G>A c.1834G>A (p.Gly612Ser) c.1831G>A (p.Gly611Ser) c.778G>A (p.Gly260Ser) c.1624G>A (p.Gly542Ser) c.1144G>A (p.Gly382Ser) | |
| 12 | g.47985579A>C | CA479468596 | COL2A1 | c.1482T>G (p.Thr494=) c.1689T>G (p.Thr563=) n.613T>G c.1833T>G (p.Thr611=) c.1830T>G (p.Thr610=) c.777T>G (p.Thr259=) c.1623T>G (p.Thr541=) c.1143T>G (p.Thr381=) | |
| 12 | g.47985579A>G | CA479468597 | COL2A1 | c.1482T>C (p.Thr494=) c.1689T>C (p.Thr563=) n.613T>C c.1833T>C (p.Thr611=) c.1830T>C (p.Thr610=) c.777T>C (p.Thr259=) c.1623T>C (p.Thr541=) c.1143T>C (p.Thr381=) | |
| 12 | g.47985579A>T | CA479468599 | COL2A1 | c.1482T>A (p.Thr494=) c.1689T>A (p.Thr563=) n.613T>A c.1833T>A (p.Thr611=) c.1830T>A (p.Thr610=) c.777T>A (p.Thr259=) c.1623T>A (p.Thr541=) c.1143T>A (p.Thr381=) | |
| 12 | g.47985580G>A | CA384551194 | COL2A1 | c.1481C>T (p.Thr494Ile) c.1688C>T (p.Thr563Ile) n.612C>T c.1832C>T (p.Thr611Ile) c.1829C>T (p.Thr610Ile) c.776C>T (p.Thr259Ile) c.1622C>T (p.Thr541Ile) c.1142C>T (p.Thr381Ile) | |
| 12 | g.47985580G>C | CA384551197 | COL2A1 | c.1481C>G (p.Thr494Ser) c.1688C>G (p.Thr563Ser) n.612C>G c.1832C>G (p.Thr611Ser) c.1829C>G (p.Thr610Ser) c.776C>G (p.Thr259Ser) c.1622C>G (p.Thr541Ser) c.1142C>G (p.Thr381Ser) | |
| 12 | g.47985580G>T | CA384551200 | COL2A1 | c.1481C>A (p.Thr494Asn) c.1688C>A (p.Thr563Asn) n.612C>A c.1832C>A (p.Thr611Asn) c.1829C>A (p.Thr610Asn) c.776C>A (p.Thr259Asn) c.1622C>A (p.Thr541Asn) c.1142C>A (p.Thr381Asn) | |
| 12 | g.47985580_47985582del | CA2795862839 | COL2A1 | c.1479_1481del (p.Thr494del) c.1686_1688del (p.Thr563del) n.610_612del c.1830_1832del (p.Thr611del) c.1827_1829del (p.Thr610del) c.774_776del (p.Thr259del) c.1620_1622del (p.Thr541del) c.1140_1142del (p.Thr381del) | |
| 12 | g.47985581T>A | CA384551204 | COL2A1 | c.1480A>T (p.Thr494Ser) c.1687A>T (p.Thr563Ser) n.611A>T c.1831A>T (p.Thr611Ser) c.1828A>T (p.Thr610Ser) c.775A>T (p.Thr259Ser) c.1621A>T (p.Thr541Ser) c.1141A>T (p.Thr381Ser) | |
| 12 | g.47985581T>C | CA384551206 | COL2A1 | c.1480A>G (p.Thr494Ala) c.1687A>G (p.Thr563Ala) n.611A>G c.1831A>G (p.Thr611Ala) c.1828A>G (p.Thr610Ala) c.775A>G (p.Thr259Ala) c.1621A>G (p.Thr541Ala) c.1141A>G (p.Thr381Ala) | |
| 12 | g.47985581T>G | CA384551209 | COL2A1 | c.1480A>C (p.Thr494Pro) c.1687A>C (p.Thr563Pro) n.611A>C c.1831A>C (p.Thr611Pro) c.1828A>C (p.Thr610Pro) c.775A>C (p.Thr259Pro) c.1621A>C (p.Thr541Pro) c.1141A>C (p.Thr381Pro) | |
| 12 | g.47985582G>A | CA479468613 | COL2A1 | c.1479C>T (p.Leu493=) c.1686C>T (p.Leu562=) n.610C>T c.1830C>T (p.Leu610=) c.1827C>T (p.Leu609=) c.774C>T (p.Leu258=) c.1620C>T (p.Leu540=) c.1140C>T (p.Leu380=) | |
| 12 | g.47985582G>C | CA479468615 | COL2A1 | c.1479C>G (p.Leu493=) c.1686C>G (p.Leu562=) n.610C>G c.1830C>G (p.Leu610=) c.1827C>G (p.Leu609=) c.774C>G (p.Leu258=) c.1620C>G (p.Leu540=) c.1140C>G (p.Leu380=) | |
| 12 | g.47985582G>T | CA479468617 | COL2A1 | c.1479C>A (p.Leu493=) c.1686C>A (p.Leu562=) n.610C>A c.1830C>A (p.Leu610=) c.1827C>A (p.Leu609=) c.774C>A (p.Leu258=) c.1620C>A (p.Leu540=) c.1140C>A (p.Leu380=) | |
| 12 | g.47985583A>C | CA384551213 | COL2A1 | c.1478T>G (p.Leu493Arg) c.1685T>G (p.Leu562Arg) n.609T>G c.1829T>G (p.Leu610Arg) c.1826T>G (p.Leu609Arg) c.773T>G (p.Leu258Arg) c.1619T>G (p.Leu540Arg) c.1139T>G (p.Leu380Arg) | |
| 12 | g.47985583A>G | CA384551217 | COL2A1 | c.1478T>C (p.Leu493Pro) c.1685T>C (p.Leu562Pro) n.609T>C c.1829T>C (p.Leu610Pro) c.1826T>C (p.Leu609Pro) c.773T>C (p.Leu258Pro) c.1619T>C (p.Leu540Pro) c.1139T>C (p.Leu380Pro) | |
| 12 | g.47985583A>T | CA384551219 | COL2A1 | c.1478T>A (p.Leu493His) c.1685T>A (p.Leu562His) n.609T>A c.1829T>A (p.Leu610His) c.1826T>A (p.Leu609His) c.773T>A (p.Leu258His) c.1619T>A (p.Leu540His) c.1139T>A (p.Leu380His) | |
| 12 | g.47985584G>A | CA384551222 | COL2A1 | c.1477C>T (p.Leu493Phe) c.1684C>T (p.Leu562Phe) n.608C>T c.1828C>T (p.Leu610Phe) c.1825C>T (p.Leu609Phe) c.772C>T (p.Leu258Phe) c.1618C>T (p.Leu540Phe) c.1138C>T (p.Leu380Phe) | |
| 12 | g.47985584G>C | CA384551225 | COL2A1 | c.1477C>G (p.Leu493Val) c.1684C>G (p.Leu562Val) n.608C>G c.1828C>G (p.Leu610Val) c.1825C>G (p.Leu609Val) c.772C>G (p.Leu258Val) c.1618C>G (p.Leu540Val) c.1138C>G (p.Leu380Val) | |
| 12 | g.47985584G>T | CA384551227 | COL2A1 | c.1477C>A (p.Leu493Ile) c.1684C>A (p.Leu562Ile) n.608C>A c.1828C>A (p.Leu610Ile) c.1825C>A (p.Leu609Ile) c.772C>A (p.Leu258Ile) c.1618C>A (p.Leu540Ile) c.1138C>A (p.Leu380Ile) | |
| 12 | g.47985585A= | CA2034455463 | COL2A1 | c.1476T= (p.Gly492=) c.1683T= (p.Gly561=) n.607T= c.1827T= (p.Gly609=) c.1824T= (p.Gly608=) c.771T= (p.Gly257=) c.1617T= (p.Gly539=) c.1137T= (p.Gly379=) | |
| 12 | g.47985585A>C | CA479468628 | COL2A1 | c.1476T>G (p.Gly492=) c.1683T>G (p.Gly561=) n.607T>G c.1827T>G (p.Gly609=) c.1824T>G (p.Gly608=) c.771T>G (p.Gly257=) c.1617T>G (p.Gly539=) c.1137T>G (p.Gly379=) | |
| 12 | g.47985585A>G | CA479468630 | COL2A1 | c.1476T>C (p.Gly492=) c.1683T>C (p.Gly561=) n.607T>C c.1827T>C (p.Gly609=) c.1824T>C (p.Gly608=) c.771T>C (p.Gly257=) c.1617T>C (p.Gly539=) c.1137T>C (p.Gly379=) | gnomAD v4 |
| 12 | g.47985585A>T | CA479468634 | COL2A1 | c.1476T>A (p.Gly492=) c.1683T>A (p.Gly561=) n.607T>A c.1827T>A (p.Gly609=) c.1824T>A (p.Gly608=) c.771T>A (p.Gly257=) c.1617T>A (p.Gly539=) c.1137T>A (p.Gly379=) | ClinVar dbSNP |
| 12 | g.47985586C>A | CA384551233 | COL2A1 | c.1475G>T (p.Gly492Val) c.1682G>T (p.Gly561Val) n.606G>T c.1826G>T (p.Gly609Val) c.1823G>T (p.Gly608Val) c.770G>T (p.Gly257Val) c.1616G>T (p.Gly539Val) c.1136G>T (p.Gly379Val) | ClinVar dbSNP |
| 12 | g.47985586C= | CA2034455468 | COL2A1 | c.1475G= (p.Gly492=) c.1682G= (p.Gly561=) n.606G= c.1826G= (p.Gly609=) c.1823G= (p.Gly608=) c.770G= (p.Gly257=) c.1616G= (p.Gly539=) c.1136G= (p.Gly379=) | |
| 12 | g.47985586C>G | CA384551234 | COL2A1 | c.1475G>C (p.Gly492Ala) c.1682G>C (p.Gly561Ala) n.606G>C c.1826G>C (p.Gly609Ala) c.1823G>C (p.Gly608Ala) c.770G>C (p.Gly257Ala) c.1616G>C (p.Gly539Ala) c.1136G>C (p.Gly379Ala) | |
| 12 | g.47985586C>T | CA384551230 | COL2A1 | c.1475G>A (p.Gly492Asp) c.1682G>A (p.Gly561Asp) n.606G>A c.1826G>A (p.Gly609Asp) c.1823G>A (p.Gly608Asp) c.770G>A (p.Gly257Asp) c.1616G>A (p.Gly539Asp) c.1136G>A (p.Gly379Asp) | |
| 12 | g.47985588dup | CA658797887 | COL2A1 | c.1475dup c.1682dup n.606dup c.1826dup c.1823dup c.770dup c.1616dup c.1136dup | ClinVar dbSNP |
| 12 | g.47985587C>A | CA384551235 | COL2A1 | c.1474G>T (p.Gly492Cys) c.1681G>T (p.Gly561Cys) n.605G>T c.1825G>T (p.Gly609Cys) c.1822G>T (p.Gly608Cys) c.769G>T (p.Gly257Cys) c.1615G>T (p.Gly539Cys) c.1135G>T (p.Gly379Cys) | gnomAD v4 |
| 12 | g.47985587C>G | CA384551236 | COL2A1 | c.1474G>C (p.Gly492Arg) c.1681G>C (p.Gly561Arg) n.605G>C c.1825G>C (p.Gly609Arg) c.1822G>C (p.Gly608Arg) c.769G>C (p.Gly257Arg) c.1615G>C (p.Gly539Arg) c.1135G>C (p.Gly379Arg) | |
| 12 | g.47985587C>T | CA384551238 | COL2A1 | c.1474G>A (p.Gly492Ser) c.1681G>A (p.Gly561Ser) n.605G>A c.1825G>A (p.Gly609Ser) c.1822G>A (p.Gly608Ser) c.769G>A (p.Gly257Ser) c.1615G>A (p.Gly539Ser) c.1135G>A (p.Gly379Ser) | ClinVar |