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.47985950G>A | CA10605694 | COL2A1 | c.1336C>T (p.Arg446Cys) c.1543C>T (p.Arg515Cys) n.467C>T c.1687C>T (p.Arg563Cys) c.1684C>T (p.Arg562Cys) c.631C>T (p.Arg211Cys) c.1477C>T (p.Arg493Cys) c.997C>T (p.Arg333Cys) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47985950G>C | CA384552168 | COL2A1 | c.1336C>G (p.Arg446Gly) c.1543C>G (p.Arg515Gly) n.467C>G c.1687C>G (p.Arg563Gly) c.1684C>G (p.Arg562Gly) c.631C>G (p.Arg211Gly) c.1477C>G (p.Arg493Gly) c.997C>G (p.Arg333Gly) | |
| 12 | g.47985950G= | CA2034456250 | COL2A1 | c.1336C= (p.Arg446=) c.1543C= (p.Arg515=) n.467C= c.1687C= (p.Arg563=) c.1684C= (p.Arg562=) c.631C= (p.Arg211=) c.1477C= (p.Arg493=) c.997C= (p.Arg333=) | |
| 12 | g.47985950G>T | CA384552174 | COL2A1 | c.1336C>A (p.Arg446Ser) c.1543C>A (p.Arg515Ser) n.467C>A c.1687C>A (p.Arg563Ser) c.1684C>A (p.Arg562Ser) c.631C>A (p.Arg211Ser) c.1477C>A (p.Arg493Ser) c.997C>A (p.Arg333Ser) | |
| 12 | g.47985951G>A | CA479470732 | COL2A1 | c.1335C>T (p.Asn445=) c.1542C>T (p.Asn514=) n.466C>T c.1686C>T (p.Asn562=) c.1683C>T (p.Asn561=) c.630C>T (p.Asn210=) c.1476C>T (p.Asn492=) c.996C>T (p.Asn332=) | |
| 12 | g.47985951G>C | CA384552176 | COL2A1 | c.1335C>G (p.Asn445Lys) c.1542C>G (p.Asn514Lys) n.466C>G c.1686C>G (p.Asn562Lys) c.1683C>G (p.Asn561Lys) c.630C>G (p.Asn210Lys) c.1476C>G (p.Asn492Lys) c.996C>G (p.Asn332Lys) | |
| 12 | g.47985951G>T | CA384552179 | COL2A1 | c.1335C>A (p.Asn445Lys) c.1542C>A (p.Asn514Lys) n.466C>A c.1686C>A (p.Asn562Lys) c.1683C>A (p.Asn561Lys) c.630C>A (p.Asn210Lys) c.1476C>A (p.Asn492Lys) c.996C>A (p.Asn332Lys) | |
| 12 | g.47985952T>A | CA384552182 | COL2A1 | c.1334A>T (p.Asn445Ile) c.1541A>T (p.Asn514Ile) n.465A>T c.1685A>T (p.Asn562Ile) c.1682A>T (p.Asn561Ile) c.629A>T (p.Asn210Ile) c.1475A>T (p.Asn492Ile) c.995A>T (p.Asn332Ile) | |
| 12 | g.47985952T>C | CA384552183 | COL2A1 | c.1334A>G (p.Asn445Ser) c.1541A>G (p.Asn514Ser) n.465A>G c.1685A>G (p.Asn562Ser) c.1682A>G (p.Asn561Ser) c.629A>G (p.Asn210Ser) c.1475A>G (p.Asn492Ser) c.995A>G (p.Asn332Ser) | |
| 12 | g.47985952T>G | CA384552184 | COL2A1 | c.1334A>C (p.Asn445Thr) c.1541A>C (p.Asn514Thr) n.465A>C c.1685A>C (p.Asn562Thr) c.1682A>C (p.Asn561Thr) c.629A>C (p.Asn210Thr) c.1475A>C (p.Asn492Thr) c.995A>C (p.Asn332Thr) | ClinVar |
| 12 | g.47985952_47985953insAGA | CA2795863031 | COL2A1 | c.1333_1334insTCT (p.Asn445delinsIleTyr) c.1540_1541insTCT (p.Asn514delinsIleTyr) n.464_465insTCT c.1684_1685insTCT (p.Asn562delinsIleTyr) c.1681_1682insTCT (p.Asn561delinsIleTyr) c.628_629insTCT (p.Asn210delinsIleTyr) c.1474_1475insTCT (p.Asn492delinsIleTyr) c.994_995insTCT (p.Asn332delinsIleTyr) | |
| 12 | g.47985953T>A | CA384552190 | COL2A1 | c.1333A>T (p.Asn445Tyr) c.1540A>T (p.Asn514Tyr) n.464A>T c.1684A>T (p.Asn562Tyr) c.1681A>T (p.Asn561Tyr) c.628A>T (p.Asn210Tyr) c.1474A>T (p.Asn492Tyr) c.994A>T (p.Asn332Tyr) | |
| 12 | g.47985953T>C | CA384552187 | COL2A1 | c.1333A>G (p.Asn445Asp) c.1540A>G (p.Asn514Asp) n.464A>G c.1684A>G (p.Asn562Asp) c.1681A>G (p.Asn561Asp) c.628A>G (p.Asn210Asp) c.1474A>G (p.Asn492Asp) c.994A>G (p.Asn332Asp) | |
| 12 | g.47985953T>G | CA384552185 | COL2A1 | c.1333A>C (p.Asn445His) c.1540A>C (p.Asn514His) n.464A>C c.1684A>C (p.Asn562His) c.1681A>C (p.Asn561His) c.628A>C (p.Asn210His) c.1474A>C (p.Asn492His) c.994A>C (p.Asn332His) | gnomAD v4 |
| 12 | g.47985954G>A | CA479470774 | COL2A1 | c.1332C>T (p.Gly444=) c.1539C>T (p.Gly513=) n.463C>T c.1683C>T (p.Gly561=) c.1680C>T (p.Gly560=) c.627C>T (p.Gly209=) c.1473C>T (p.Gly491=) c.993C>T (p.Gly331=) | |
| 12 | g.47985954G>C | CA479470777 | COL2A1 | c.1332C>G (p.Gly444=) c.1539C>G (p.Gly513=) n.463C>G c.1683C>G (p.Gly561=) c.1680C>G (p.Gly560=) c.627C>G (p.Gly209=) c.1473C>G (p.Gly491=) c.993C>G (p.Gly331=) | |
| 12 | g.47985954G= | CA2034456257 | COL2A1 | c.1332C= (p.Gly444=) c.1539C= (p.Gly513=) n.463C= c.1683C= (p.Gly561=) c.1680C= (p.Gly560=) c.627C= (p.Gly209=) c.1473C= (p.Gly491=) c.993C= (p.Gly331=) | |
| 12 | g.47985954G>T | CA236527531 | COL2A1 | c.1332C>A (p.Gly444=) c.1539C>A (p.Gly513=) n.463C>A c.1683C>A (p.Gly561=) c.1680C>A (p.Gly560=) c.627C>A (p.Gly209=) c.1473C>A (p.Gly491=) c.993C>A (p.Gly331=) | dbSNP |
| 12 | g.47985955C>A | CA384552199 | COL2A1 | c.1331G>T (p.Gly444Val) c.1538G>T (p.Gly513Val) n.462G>T c.1682G>T (p.Gly561Val) c.1679G>T (p.Gly560Val) c.626G>T (p.Gly209Val) c.1472G>T (p.Gly491Val) c.992G>T (p.Gly331Val) | |
| 12 | g.47985955C>G | CA384552196 | COL2A1 | c.1331G>C (p.Gly444Ala) c.1538G>C (p.Gly513Ala) n.462G>C c.1682G>C (p.Gly561Ala) c.1679G>C (p.Gly560Ala) c.626G>C (p.Gly209Ala) c.1472G>C (p.Gly491Ala) c.992G>C (p.Gly331Ala) | |
| 12 | g.47985955C>T | CA384552201 | COL2A1 | c.1331G>A (p.Gly444Asp) c.1538G>A (p.Gly513Asp) n.462G>A c.1682G>A (p.Gly561Asp) c.1679G>A (p.Gly560Asp) c.626G>A (p.Gly209Asp) c.1472G>A (p.Gly491Asp) c.992G>A (p.Gly331Asp) | |
| 12 | g.47985956C>A | CA384552205 | COL2A1 | c.1330G>T (p.Gly444Cys) c.1537G>T (p.Gly513Cys) n.461G>T c.1681G>T (p.Gly561Cys) c.1678G>T (p.Gly560Cys) c.625G>T (p.Gly209Cys) c.1471G>T (p.Gly491Cys) c.991G>T (p.Gly331Cys) | |
| 12 | g.47985956C= | CA2034456266 | COL2A1 | c.1330G= (p.Gly444=) c.1537G= (p.Gly513=) n.461G= c.1681G= (p.Gly561=) c.1678G= (p.Gly560=) c.625G= (p.Gly209=) c.1471G= (p.Gly491=) c.991G= (p.Gly331=) | |
| 12 | g.47985956C>G | CA384552207 | COL2A1 | c.1330G>C (p.Gly444Arg) c.1537G>C (p.Gly513Arg) n.461G>C c.1681G>C (p.Gly561Arg) c.1678G>C (p.Gly560Arg) c.625G>C (p.Gly209Arg) c.1471G>C (p.Gly491Arg) c.991G>C (p.Gly331Arg) | |
| 12 | g.47985956C>T | CA384552209 | COL2A1 | c.1330G>A (p.Gly444Ser) c.1537G>A (p.Gly513Ser) n.461G>A c.1681G>A (p.Gly561Ser) c.1678G>A (p.Gly560Ser) c.625G>A (p.Gly209Ser) c.1471G>A (p.Gly491Ser) c.991G>A (p.Gly331Ser) | ClinVar dbSNP |
| 12 | g.47985957G>A | CA236527533 | COL2A1 | c.1329C>T (p.Pro443=) c.1536C>T (p.Pro512=) n.460C>T c.1680C>T (p.Pro560=) c.1677C>T (p.Pro559=) c.624C>T (p.Pro208=) c.1470C>T (p.Pro490=) c.990C>T (p.Pro330=) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47985957G>C | CA479470798 | COL2A1 | c.1329C>G (p.Pro443=) c.1536C>G (p.Pro512=) n.460C>G c.1680C>G (p.Pro560=) c.1677C>G (p.Pro559=) c.624C>G (p.Pro208=) c.1470C>G (p.Pro490=) c.990C>G (p.Pro330=) | dbSNP gnomAD v4 |
| 12 | g.47985957G= | CA2034456272 | COL2A1 | c.1329C= (p.Pro443=) c.1536C= (p.Pro512=) n.460C= c.1680C= (p.Pro560=) c.1677C= (p.Pro559=) c.624C= (p.Pro208=) c.1470C= (p.Pro490=) c.990C= (p.Pro330=) | |
| 12 | g.47985957G>T | CA479470799 | COL2A1 | c.1329C>A (p.Pro443=) c.1536C>A (p.Pro512=) n.460C>A c.1680C>A (p.Pro560=) c.1677C>A (p.Pro559=) c.624C>A (p.Pro208=) c.1470C>A (p.Pro490=) c.990C>A (p.Pro330=) | gnomAD v4 |
| 12 | g.47985958G>A | CA384552215 | COL2A1 | c.1328C>T (p.Pro443Leu) c.1535C>T (p.Pro512Leu) n.459C>T c.1679C>T (p.Pro560Leu) c.1676C>T (p.Pro559Leu) c.623C>T (p.Pro208Leu) c.1469C>T (p.Pro490Leu) c.989C>T (p.Pro330Leu) | |
| 12 | g.47985958G>C | CA384552216 | COL2A1 | c.1328C>G (p.Pro443Arg) c.1535C>G (p.Pro512Arg) n.459C>G c.1679C>G (p.Pro560Arg) c.1676C>G (p.Pro559Arg) c.623C>G (p.Pro208Arg) c.1469C>G (p.Pro490Arg) c.989C>G (p.Pro330Arg) | |
| 12 | g.47985958G>T | CA384552217 | COL2A1 | c.1328C>A (p.Pro443His) c.1535C>A (p.Pro512His) n.459C>A c.1679C>A (p.Pro560His) c.1676C>A (p.Pro559His) c.623C>A (p.Pro208His) c.1469C>A (p.Pro490His) c.989C>A (p.Pro330His) | |
| 12 | g.47985959G>A | CA384552219 | COL2A1 | c.1327C>T (p.Pro443Ser) c.1534C>T (p.Pro512Ser) n.458C>T c.1678C>T (p.Pro560Ser) c.1675C>T (p.Pro559Ser) c.622C>T (p.Pro208Ser) c.1468C>T (p.Pro490Ser) c.988C>T (p.Pro330Ser) | dbSNP gnomAD v4 |
| 12 | g.47985959G>C | CA384552220 | COL2A1 | c.1327C>G (p.Pro443Ala) c.1534C>G (p.Pro512Ala) n.458C>G c.1678C>G (p.Pro560Ala) c.1675C>G (p.Pro559Ala) c.622C>G (p.Pro208Ala) c.1468C>G (p.Pro490Ala) c.988C>G (p.Pro330Ala) | |
| 12 | g.47985959G= | CA2034456278 | COL2A1 | c.1327C= (p.Pro443=) c.1534C= (p.Pro512=) n.458C= c.1678C= (p.Pro560=) c.1675C= (p.Pro559=) c.622C= (p.Pro208=) c.1468C= (p.Pro490=) c.988C= (p.Pro330=) | |
| 12 | g.47985959G>T | CA384552221 | COL2A1 | c.1327C>A (p.Pro443Thr) c.1534C>A (p.Pro512Thr) n.458C>A c.1678C>A (p.Pro560Thr) c.1675C>A (p.Pro559Thr) c.622C>A (p.Pro208Thr) c.1468C>A (p.Pro490Thr) c.988C>A (p.Pro330Thr) | |
| 12 | g.47985960A>C | CA479470815 | COL2A1 | c.1326T>G (p.Ala442=) c.1533T>G (p.Ala511=) n.457T>G c.1677T>G (p.Ala559=) c.1674T>G (p.Ala558=) c.621T>G (p.Ala207=) c.1467T>G (p.Ala489=) c.987T>G (p.Ala329=) | |
| 12 | g.47985960A>G | CA479470818 | COL2A1 | c.1326T>C (p.Ala442=) c.1533T>C (p.Ala511=) n.457T>C c.1677T>C (p.Ala559=) c.1674T>C (p.Ala558=) c.621T>C (p.Ala207=) c.1467T>C (p.Ala489=) c.987T>C (p.Ala329=) | gnomAD v4 |
| 12 | g.47985960A>T | CA479470821 | COL2A1 | c.1326T>A (p.Ala442=) c.1533T>A (p.Ala511=) n.457T>A c.1677T>A (p.Ala559=) c.1674T>A (p.Ala558=) c.621T>A (p.Ala207=) c.1467T>A (p.Ala489=) c.987T>A (p.Ala329=) | |
| 12 | g.47985961G>A | CA384552228 | COL2A1 | c.1325C>T (p.Ala442Val) c.1532C>T (p.Ala511Val) n.456C>T c.1676C>T (p.Ala559Val) c.1673C>T (p.Ala558Val) c.620C>T (p.Ala207Val) c.1466C>T (p.Ala489Val) c.986C>T (p.Ala329Val) | gnomAD v4 |
| 12 | g.47985961G>C | CA384552226 | COL2A1 | c.1325C>G (p.Ala442Gly) c.1532C>G (p.Ala511Gly) n.456C>G c.1676C>G (p.Ala559Gly) c.1673C>G (p.Ala558Gly) c.620C>G (p.Ala207Gly) c.1466C>G (p.Ala489Gly) c.986C>G (p.Ala329Gly) | |
| 12 | g.47985961G>T | CA384552224 | COL2A1 | c.1325C>A (p.Ala442Asp) c.1532C>A (p.Ala511Asp) n.456C>A c.1676C>A (p.Ala559Asp) c.1673C>A (p.Ala558Asp) c.620C>A (p.Ala207Asp) c.1466C>A (p.Ala489Asp) c.986C>A (p.Ala329Asp) | |
| 12 | g.47985962C>A | CA384552230 | COL2A1 | c.1324G>T (p.Ala442Ser) c.1531G>T (p.Ala511Ser) n.455G>T c.1675G>T (p.Ala559Ser) c.1672G>T (p.Ala558Ser) c.619G>T (p.Ala207Ser) c.1465G>T (p.Ala489Ser) c.985G>T (p.Ala329Ser) | |
| 12 | g.47985962C>G | CA384552232 | COL2A1 | c.1324G>C (p.Ala442Pro) c.1531G>C (p.Ala511Pro) n.455G>C c.1675G>C (p.Ala559Pro) c.1672G>C (p.Ala558Pro) c.619G>C (p.Ala207Pro) c.1465G>C (p.Ala489Pro) c.985G>C (p.Ala329Pro) | |
| 12 | g.47985962C>T | CA384552234 | COL2A1 | c.1324G>A (p.Ala442Thr) c.1531G>A (p.Ala511Thr) n.455G>A c.1675G>A (p.Ala559Thr) c.1672G>A (p.Ala558Thr) c.619G>A (p.Ala207Thr) c.1465G>A (p.Ala489Thr) c.985G>A (p.Ala329Thr) | |
| 12 | g.47985963A>C | CA479470841 | COL2A1 | c.1323T>G (p.Gly441=) c.1530T>G (p.Gly510=) n.454T>G c.1674T>G (p.Gly558=) c.1671T>G (p.Gly557=) c.618T>G (p.Gly206=) c.1464T>G (p.Gly488=) c.984T>G (p.Gly328=) | |
| 12 | g.47985963A>G | CA479470838 | COL2A1 | c.1323T>C (p.Gly441=) c.1530T>C (p.Gly510=) n.454T>C c.1674T>C (p.Gly558=) c.1671T>C (p.Gly557=) c.618T>C (p.Gly206=) c.1464T>C (p.Gly488=) c.984T>C (p.Gly328=) | ClinVar |
| 12 | g.47985963A>T | CA479470843 | COL2A1 | c.1323T>A (p.Gly441=) c.1530T>A (p.Gly510=) n.454T>A c.1674T>A (p.Gly558=) c.1671T>A (p.Gly557=) c.618T>A (p.Gly206=) c.1464T>A (p.Gly488=) c.984T>A (p.Gly328=) | |
| 12 | g.47985964C>A | CA384552237 | COL2A1 | c.1322G>T (p.Gly441Val) c.1529G>T (p.Gly510Val) n.453G>T c.1673G>T (p.Gly558Val) c.1670G>T (p.Gly557Val) c.617G>T (p.Gly206Val) c.1463G>T (p.Gly488Val) c.983G>T (p.Gly328Val) | gnomAD v4 |