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.47985811G>A | CA384551753 | COL2A1 | c.1390C>T (p.Arg464Ter) c.1597C>T (p.Arg533Ter) n.521C>T c.1741C>T (p.Arg581Ter) c.1738C>T (p.Arg580Ter) c.685C>T (p.Arg229Ter) c.1531C>T (p.Arg511Ter) c.1051C>T (p.Arg351Ter) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47985811G>C | CA384551755 | COL2A1 | c.1390C>G (p.Arg464Gly) c.1597C>G (p.Arg533Gly) n.521C>G c.1741C>G (p.Arg581Gly) c.1738C>G (p.Arg580Gly) c.685C>G (p.Arg229Gly) c.1531C>G (p.Arg511Gly) c.1051C>G (p.Arg351Gly) | |
| 12 | g.47985811G= | CA2034455957 | COL2A1 | c.1390C= (p.Arg464=) c.1597C= (p.Arg533=) n.521C= c.1741C= (p.Arg581=) c.1738C= (p.Arg580=) c.685C= (p.Arg229=) c.1531C= (p.Arg511=) c.1051C= (p.Arg351=) | |
| 12 | g.47985811G>T | CA479469209 | COL2A1 | c.1390C>A (p.Arg464=) c.1597C>A (p.Arg533=) n.521C>A c.1741C>A (p.Arg581=) c.1738C>A (p.Arg580=) c.685C>A (p.Arg229=) c.1531C>A (p.Arg511=) c.1051C>A (p.Arg351=) | ClinVar dbSNP |
| 12 | g.47985812C>A | CA6535443 | COL2A1 | c.1389G>T (p.Glu463Asp) c.1596G>T (p.Glu532Asp) n.520G>T c.1740G>T (p.Glu580Asp) c.1737G>T (p.Glu579Asp) c.684G>T (p.Glu228Asp) c.1530G>T (p.Glu510Asp) c.1050G>T (p.Glu350Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47985812C= | CA2034455965 | COL2A1 | c.1389G= (p.Glu463=) c.1596G= (p.Glu532=) n.520G= c.1740G= (p.Glu580=) c.1737G= (p.Glu579=) c.684G= (p.Glu228=) c.1530G= (p.Glu510=) c.1050G= (p.Glu350=) | |
| 12 | g.47985812C>G | CA384551760 | COL2A1 | c.1389G>C (p.Glu463Asp) c.1596G>C (p.Glu532Asp) n.520G>C c.1740G>C (p.Glu580Asp) c.1737G>C (p.Glu579Asp) c.684G>C (p.Glu228Asp) c.1530G>C (p.Glu510Asp) c.1050G>C (p.Glu350Asp) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47985812C>T | CA479469210 | COL2A1 | c.1389G>A (p.Glu463=) c.1596G>A (p.Glu532=) n.520G>A c.1740G>A (p.Glu580=) c.1737G>A (p.Glu579=) c.684G>A (p.Glu228=) c.1530G>A (p.Glu510=) c.1050G>A (p.Glu350=) | |
| 12 | g.47985813T>A | CA384551770 | COL2A1 | c.1388A>T (p.Glu463Val) c.1595A>T (p.Glu532Val) n.519A>T c.1739A>T (p.Glu580Val) c.1736A>T (p.Glu579Val) c.683A>T (p.Glu228Val) c.1529A>T (p.Glu510Val) c.1049A>T (p.Glu350Val) | |
| 12 | g.47985813T>C | CA384551767 | COL2A1 | c.1388A>G (p.Glu463Gly) c.1595A>G (p.Glu532Gly) n.519A>G c.1739A>G (p.Glu580Gly) c.1736A>G (p.Glu579Gly) c.683A>G (p.Glu228Gly) c.1529A>G (p.Glu510Gly) c.1049A>G (p.Glu350Gly) | dbSNP gnomAD v2 |
| 12 | g.47985813T>G | CA384551765 | COL2A1 | c.1388A>C (p.Glu463Ala) c.1595A>C (p.Glu532Ala) n.519A>C c.1739A>C (p.Glu580Ala) c.1736A>C (p.Glu579Ala) c.683A>C (p.Glu228Ala) c.1529A>C (p.Glu510Ala) c.1049A>C (p.Glu350Ala) | |
| 12 | g.47985813T= | CA2034455970 | COL2A1 | c.1388A= (p.Glu463=) c.1595A= (p.Glu532=) n.519A= c.1739A= (p.Glu580=) c.1736A= (p.Glu579=) c.683A= (p.Glu228=) c.1529A= (p.Glu510=) c.1049A= (p.Glu350=) | |
| 12 | g.47985814C>A | CA384551773 | COL2A1 | c.1387G>T (p.Glu463Ter) c.1594G>T (p.Glu532Ter) n.518G>T c.1738G>T (p.Glu580Ter) c.1735G>T (p.Glu579Ter) c.682G>T (p.Glu228Ter) c.1528G>T (p.Glu510Ter) c.1048G>T (p.Glu350Ter) | |
| 12 | g.47985814C= | CA2034455976 | COL2A1 | c.1387G= (p.Glu463=) c.1594G= (p.Glu532=) n.518G= c.1738G= (p.Glu580=) c.1735G= (p.Glu579=) c.682G= (p.Glu228=) c.1528G= (p.Glu510=) c.1048G= (p.Glu350=) | |
| 12 | g.47985814C>G | CA384551774 | COL2A1 | c.1387G>C (p.Glu463Gln) c.1594G>C (p.Glu532Gln) n.518G>C c.1738G>C (p.Glu580Gln) c.1735G>C (p.Glu579Gln) c.682G>C (p.Glu228Gln) c.1528G>C (p.Glu510Gln) c.1048G>C (p.Glu350Gln) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47985814C>T | CA384551778 | COL2A1 | c.1387G>A (p.Glu463Lys) c.1594G>A (p.Glu532Lys) n.518G>A c.1738G>A (p.Glu580Lys) c.1735G>A (p.Glu579Lys) c.682G>A (p.Glu228Lys) c.1528G>A (p.Glu510Lys) c.1048G>A (p.Glu350Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47985815T>A | CA479469234 | COL2A1 | c.1386A>T (p.Gly462=) c.1593A>T (p.Gly531=) n.517A>T c.1737A>T (p.Gly579=) c.1734A>T (p.Gly578=) c.681A>T (p.Gly227=) c.1527A>T (p.Gly509=) c.1047A>T (p.Gly349=) | |
| 12 | g.47985815T>C | CA479469237 | COL2A1 | c.1386A>G (p.Gly462=) c.1593A>G (p.Gly531=) n.517A>G c.1737A>G (p.Gly579=) c.1734A>G (p.Gly578=) c.681A>G (p.Gly227=) c.1527A>G (p.Gly509=) c.1047A>G (p.Gly349=) | |
| 12 | g.47985815T>G | CA479469240 | COL2A1 | c.1386A>C (p.Gly462=) c.1593A>C (p.Gly531=) n.517A>C c.1737A>C (p.Gly579=) c.1734A>C (p.Gly578=) c.681A>C (p.Gly227=) c.1527A>C (p.Gly509=) c.1047A>C (p.Gly349=) | |
| 12 | g.47985816C>A | CA384551783 | COL2A1 | c.1385G>T (p.Gly462Val) c.1592G>T (p.Gly531Val) n.516G>T c.1736G>T (p.Gly579Val) c.1733G>T (p.Gly578Val) c.680G>T (p.Gly227Val) c.1526G>T (p.Gly509Val) c.1046G>T (p.Gly349Val) | |
| 12 | g.47985816C>G | CA384551785 | COL2A1 | c.1385G>C (p.Gly462Ala) c.1592G>C (p.Gly531Ala) n.516G>C c.1736G>C (p.Gly579Ala) c.1733G>C (p.Gly578Ala) c.680G>C (p.Gly227Ala) c.1526G>C (p.Gly509Ala) c.1046G>C (p.Gly349Ala) | |
| 12 | g.47985816C>T | CA384551788 | COL2A1 | c.1385G>A (p.Gly462Glu) c.1592G>A (p.Gly531Glu) n.516G>A c.1736G>A (p.Gly579Glu) c.1733G>A (p.Gly578Glu) c.680G>A (p.Gly227Glu) c.1526G>A (p.Gly509Glu) c.1046G>A (p.Gly349Glu) | |
| 12 | g.47985817C>A | CA384551791 | COL2A1 | c.1384G>T (p.Gly462Ter) c.1591G>T (p.Gly531Ter) n.515G>T c.1735G>T (p.Gly579Ter) c.1732G>T (p.Gly578Ter) c.679G>T (p.Gly227Ter) c.1525G>T (p.Gly509Ter) c.1045G>T (p.Gly349Ter) | |
| 12 | g.47985817C>G | CA384551793 | COL2A1 | c.1384G>C (p.Gly462Arg) c.1591G>C (p.Gly531Arg) n.515G>C c.1735G>C (p.Gly579Arg) c.1732G>C (p.Gly578Arg) c.679G>C (p.Gly227Arg) c.1525G>C (p.Gly509Arg) c.1045G>C (p.Gly349Arg) | |
| 12 | g.47985817C>T | CA384551797 | COL2A1 | c.1384G>A (p.Gly462Arg) c.1591G>A (p.Gly531Arg) n.515G>A c.1735G>A (p.Gly579Arg) c.1732G>A (p.Gly578Arg) c.679G>A (p.Gly227Arg) c.1525G>A (p.Gly509Arg) c.1045G>A (p.Gly349Arg) | |
| 12 | g.47985818A>C | CA479469257 | COL2A1 | c.1383T>G (p.Pro461=) c.1590T>G (p.Pro530=) n.514T>G c.1734T>G (p.Pro578=) c.1731T>G (p.Pro577=) c.678T>G (p.Pro226=) c.1524T>G (p.Pro508=) c.1044T>G (p.Pro348=) | |
| 12 | g.47985818A>G | CA479469262 | COL2A1 | c.1383T>C (p.Pro461=) c.1590T>C (p.Pro530=) n.514T>C c.1734T>C (p.Pro578=) c.1731T>C (p.Pro577=) c.678T>C (p.Pro226=) c.1524T>C (p.Pro508=) c.1044T>C (p.Pro348=) | |
| 12 | g.47985818A>T | CA479469265 | COL2A1 | c.1383T>A (p.Pro461=) c.1590T>A (p.Pro530=) n.514T>A c.1734T>A (p.Pro578=) c.1731T>A (p.Pro577=) c.678T>A (p.Pro226=) c.1524T>A (p.Pro508=) c.1044T>A (p.Pro348=) | |
| 12 | g.47985819G>A | CA384551801 | COL2A1 | c.1382C>T (p.Pro461Leu) c.1589C>T (p.Pro530Leu) n.513C>T c.1733C>T (p.Pro578Leu) c.1730C>T (p.Pro577Leu) c.677C>T (p.Pro226Leu) c.1523C>T (p.Pro508Leu) c.1043C>T (p.Pro348Leu) | gnomAD v4 |
| 12 | g.47985819G>C | CA384551804 | COL2A1 | c.1382C>G (p.Pro461Arg) c.1589C>G (p.Pro530Arg) n.513C>G c.1733C>G (p.Pro578Arg) c.1730C>G (p.Pro577Arg) c.677C>G (p.Pro226Arg) c.1523C>G (p.Pro508Arg) c.1043C>G (p.Pro348Arg) | |
| 12 | g.47985819G>T | CA384551807 | COL2A1 | c.1382C>A (p.Pro461His) c.1589C>A (p.Pro530His) n.513C>A c.1733C>A (p.Pro578His) c.1730C>A (p.Pro577His) c.677C>A (p.Pro226His) c.1523C>A (p.Pro508His) c.1043C>A (p.Pro348His) | |
| 12 | g.47985820G>A | CA236527481 | COL2A1 | c.1381C>T (p.Pro461Ser) c.1588C>T (p.Pro530Ser) n.512C>T c.1732C>T (p.Pro578Ser) c.1729C>T (p.Pro577Ser) c.676C>T (p.Pro226Ser) c.1522C>T (p.Pro508Ser) c.1042C>T (p.Pro348Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47985820G>C | CA384551810 | COL2A1 | c.1381C>G (p.Pro461Ala) c.1588C>G (p.Pro530Ala) n.512C>G c.1732C>G (p.Pro578Ala) c.1729C>G (p.Pro577Ala) c.676C>G (p.Pro226Ala) c.1522C>G (p.Pro508Ala) c.1042C>G (p.Pro348Ala) | |
| 12 | g.47985820G= | CA2034455983 | COL2A1 | c.1381C= (p.Pro461=) c.1588C= (p.Pro530=) n.512C= c.1732C= (p.Pro578=) c.1729C= (p.Pro577=) c.676C= (p.Pro226=) c.1522C= (p.Pro508=) c.1042C= (p.Pro348=) | |
| 12 | g.47985820G>T | CA384551812 | COL2A1 | c.1381C>A (p.Pro461Thr) c.1588C>A (p.Pro530Thr) n.512C>A c.1732C>A (p.Pro578Thr) c.1729C>A (p.Pro577Thr) c.676C>A (p.Pro226Thr) c.1522C>A (p.Pro508Thr) c.1042C>A (p.Pro348Thr) | dbSNP gnomAD v4 |
| 12 | g.47985821G>A | CA479469277 | COL2A1 | c.1380C>T (p.Ala460=) c.1587C>T (p.Ala529=) n.511C>T c.1731C>T (p.Ala577=) c.1728C>T (p.Ala576=) c.675C>T (p.Ala225=) c.1521C>T (p.Ala507=) c.1041C>T (p.Ala347=) | |
| 12 | g.47985821G>C | CA479469279 | COL2A1 | c.1380C>G (p.Ala460=) c.1587C>G (p.Ala529=) n.511C>G c.1731C>G (p.Ala577=) c.1728C>G (p.Ala576=) c.675C>G (p.Ala225=) c.1521C>G (p.Ala507=) c.1041C>G (p.Ala347=) | |
| 12 | g.47985821G>T | CA479469282 | COL2A1 | c.1380C>A (p.Ala460=) c.1587C>A (p.Ala529=) n.511C>A c.1731C>A (p.Ala577=) c.1728C>A (p.Ala576=) c.675C>A (p.Ala225=) c.1521C>A (p.Ala507=) c.1041C>A (p.Ala347=) | |
| 12 | g.47985822G>A | CA384551817 | COL2A1 | c.1379C>T (p.Ala460Val) c.1586C>T (p.Ala529Val) n.510C>T c.1730C>T (p.Ala577Val) c.1727C>T (p.Ala576Val) c.674C>T (p.Ala225Val) c.1520C>T (p.Ala507Val) c.1040C>T (p.Ala347Val) | gnomAD v4 |
| 12 | g.47985822G>C | CA384551833 | COL2A1 | c.1379C>G (p.Ala460Gly) c.1586C>G (p.Ala529Gly) n.510C>G c.1730C>G (p.Ala577Gly) c.1727C>G (p.Ala576Gly) c.674C>G (p.Ala225Gly) c.1520C>G (p.Ala507Gly) c.1040C>G (p.Ala347Gly) | dbSNP gnomAD v4 |
| 12 | g.47985822G= | CA2034455992 | COL2A1 | c.1379C= (p.Ala460=) c.1586C= (p.Ala529=) n.510C= c.1730C= (p.Ala577=) c.1727C= (p.Ala576=) c.674C= (p.Ala225=) c.1520C= (p.Ala507=) c.1040C= (p.Ala347=) | |
| 12 | g.47985822G>T | CA236527490 | COL2A1 | c.1379C>A (p.Ala460Asp) c.1586C>A (p.Ala529Asp) n.510C>A c.1730C>A (p.Ala577Asp) c.1727C>A (p.Ala576Asp) c.674C>A (p.Ala225Asp) c.1520C>A (p.Ala507Asp) c.1040C>A (p.Ala347Asp) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47985823C>A | CA6535444 | COL2A1 | c.1378G>T (p.Ala460Ser) c.1585G>T (p.Ala529Ser) n.509G>T c.1729G>T (p.Ala577Ser) c.1726G>T (p.Ala576Ser) c.673G>T (p.Ala225Ser) c.1519G>T (p.Ala507Ser) c.1039G>T (p.Ala347Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47985823C= | CA2034456002 | COL2A1 | c.1378G= (p.Ala460=) c.1585G= (p.Ala529=) n.509G= c.1729G= (p.Ala577=) c.1726G= (p.Ala576=) c.673G= (p.Ala225=) c.1519G= (p.Ala507=) c.1039G= (p.Ala347=) | |
| 12 | g.47985823C>G | CA384551844 | COL2A1 | c.1378G>C (p.Ala460Pro) c.1585G>C (p.Ala529Pro) n.509G>C c.1729G>C (p.Ala577Pro) c.1726G>C (p.Ala576Pro) c.673G>C (p.Ala225Pro) c.1519G>C (p.Ala507Pro) c.1039G>C (p.Ala347Pro) | |
| 12 | g.47985823C>T | CA384551841 | COL2A1 | c.1378G>A (p.Ala460Thr) c.1585G>A (p.Ala529Thr) n.509G>A c.1729G>A (p.Ala577Thr) c.1726G>A (p.Ala576Thr) c.673G>A (p.Ala225Thr) c.1519G>A (p.Ala507Thr) c.1039G>A (p.Ala347Thr) | gnomAD v4 |
| 12 | g.47985824T>A | CA479469303 | COL2A1 | c.1377A>T (p.Gly459=) c.1584A>T (p.Gly528=) n.508A>T c.1728A>T (p.Gly576=) c.1725A>T (p.Gly575=) c.672A>T (p.Gly224=) c.1518A>T (p.Gly506=) c.1038A>T (p.Gly346=) | |
| 12 | g.47985824T>C | CA479469306 | COL2A1 | c.1377A>G (p.Gly459=) c.1584A>G (p.Gly528=) n.508A>G c.1728A>G (p.Gly576=) c.1725A>G (p.Gly575=) c.672A>G (p.Gly224=) c.1518A>G (p.Gly506=) c.1038A>G (p.Gly346=) | ClinVar dbSNP |
| 12 | g.47985824T>G | CA479469310 | COL2A1 | c.1377A>C (p.Gly459=) c.1584A>C (p.Gly528=) n.508A>C c.1728A>C (p.Gly576=) c.1725A>C (p.Gly575=) c.672A>C (p.Gly224=) c.1518A>C (p.Gly506=) c.1038A>C (p.Gly346=) |