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.47989245C>A | CA384555282 | COL2A1 | c.898G>T (p.Gly300Cys) c.1105G>T (p.Gly369Cys) c.1249G>T (p.Gly417Cys) c.1246G>T (p.Gly416Cys) c.1039G>T (p.Gly347Cys) c.559G>T (p.Gly187Cys) | |
| 12 | g.47989245C= | CA2034461390 | COL2A1 | c.898G= (p.Gly300=) c.1105G= (p.Gly369=) c.1249G= (p.Gly417=) c.1246G= (p.Gly416=) c.1039G= (p.Gly347=) c.559G= (p.Gly187=) | |
| 12 | g.47989245C>G | CA384555283 | COL2A1 | c.898G>C (p.Gly300Arg) c.1105G>C (p.Gly369Arg) c.1249G>C (p.Gly417Arg) c.1246G>C (p.Gly416Arg) c.1039G>C (p.Gly347Arg) c.559G>C (p.Gly187Arg) | ClinVar dbSNP |
| 12 | g.47989245C>T | CA384555285 | COL2A1 | c.898G>A (p.Gly300Ser) c.1105G>A (p.Gly369Ser) c.1249G>A (p.Gly417Ser) c.1246G>A (p.Gly416Ser) c.1039G>A (p.Gly347Ser) c.559G>A (p.Gly187Ser) | gnomAD v4 |
| 12 | g.47989245_47989246del | CA2573148708 | COL2A1 | c.897_898del (p.Gly300CysfsTer7) c.1104_1105del (p.Gly369CysfsTer7) c.1248_1249del (p.Gly417CysfsTer7) c.1245_1246del (p.Gly416CysfsTer7) c.1038_1039del (p.Gly347CysfsTer7) c.558_559del (p.Gly187CysfsTer7) | ClinVar dbSNP |
| 12 | g.47989246A>C | CA479476318 | COL2A1 | c.897T>G (p.Pro299=) c.1104T>G (p.Pro368=) c.1248T>G (p.Pro416=) c.1245T>G (p.Pro415=) c.1038T>G (p.Pro346=) c.558T>G (p.Pro186=) | |
| 12 | g.47989246A>G | CA479476319 | COL2A1 | c.897T>C (p.Pro299=) c.1104T>C (p.Pro368=) c.1248T>C (p.Pro416=) c.1245T>C (p.Pro415=) c.1038T>C (p.Pro346=) c.558T>C (p.Pro186=) | |
| 12 | g.47989246A>T | CA479476322 | COL2A1 | c.897T>A (p.Pro299=) c.1104T>A (p.Pro368=) c.1248T>A (p.Pro416=) c.1245T>A (p.Pro415=) c.1038T>A (p.Pro346=) c.558T>A (p.Pro186=) | |
| 12 | g.47989247G>A | CA384555288 | COL2A1 | c.896C>T (p.Pro299Leu) c.1103C>T (p.Pro368Leu) c.1247C>T (p.Pro416Leu) c.1244C>T (p.Pro415Leu) c.1037C>T (p.Pro346Leu) c.557C>T (p.Pro186Leu) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47989247G>C | CA384555289 | COL2A1 | c.896C>G (p.Pro299Arg) c.1103C>G (p.Pro368Arg) c.1247C>G (p.Pro416Arg) c.1244C>G (p.Pro415Arg) c.1037C>G (p.Pro346Arg) c.557C>G (p.Pro186Arg) | |
| 12 | g.47989247G= | CA2034461395 | COL2A1 | c.896C= (p.Pro299=) c.1103C= (p.Pro368=) c.1247C= (p.Pro416=) c.1244C= (p.Pro415=) c.1037C= (p.Pro346=) c.557C= (p.Pro186=) | |
| 12 | g.47989247G>T | CA384555291 | COL2A1 | c.896C>A (p.Pro299His) c.1103C>A (p.Pro368His) c.1247C>A (p.Pro416His) c.1244C>A (p.Pro415His) c.1037C>A (p.Pro346His) c.557C>A (p.Pro186His) | ClinVar dbSNP |
| 12 | g.47989248G>A | CA384555293 | COL2A1 | c.895C>T (p.Pro299Ser) c.1102C>T (p.Pro368Ser) c.1246C>T (p.Pro416Ser) c.1243C>T (p.Pro415Ser) c.1036C>T (p.Pro346Ser) c.556C>T (p.Pro186Ser) | COSMIC COSMIC |
| 12 | g.47989248G>C | CA384555295 | COL2A1 | c.895C>G (p.Pro299Ala) c.1102C>G (p.Pro368Ala) c.1246C>G (p.Pro416Ala) c.1243C>G (p.Pro415Ala) c.1036C>G (p.Pro346Ala) c.556C>G (p.Pro186Ala) | |
| 12 | g.47989248G>T | CA384555297 | COL2A1 | c.895C>A (p.Pro299Thr) c.1102C>A (p.Pro368Thr) c.1246C>A (p.Pro416Thr) c.1243C>A (p.Pro415Thr) c.1036C>A (p.Pro346Thr) c.556C>A (p.Pro186Thr) | ClinVar |
| 12 | g.47989249G>A | CA479476348 | COL2A1 | c.894C>T (p.Phe298=) c.1101C>T (p.Phe367=) c.1245C>T (p.Phe415=) c.1242C>T (p.Phe414=) c.1035C>T (p.Phe345=) c.555C>T (p.Phe185=) | ClinVar dbSNP gnomAD v2 |
| 12 | g.47989249G>C | CA384555299 | COL2A1 | c.894C>G (p.Phe298Leu) c.1101C>G (p.Phe367Leu) c.1245C>G (p.Phe415Leu) c.1242C>G (p.Phe414Leu) c.1035C>G (p.Phe345Leu) c.555C>G (p.Phe185Leu) | |
| 12 | g.47989249G= | CA2034461398 | COL2A1 | c.894C= (p.Phe298=) c.1101C= (p.Phe367=) c.1245C= (p.Phe415=) c.1242C= (p.Phe414=) c.1035C= (p.Phe345=) c.555C= (p.Phe185=) | |
| 12 | g.47989249G>T | CA384555300 | COL2A1 | c.894C>A (p.Phe298Leu) c.1101C>A (p.Phe367Leu) c.1245C>A (p.Phe415Leu) c.1242C>A (p.Phe414Leu) c.1035C>A (p.Phe345Leu) c.555C>A (p.Phe185Leu) | |
| 12 | g.47989250A= | CA2034461401 | COL2A1 | c.893T= (p.Phe298=) c.1100T= (p.Phe367=) c.1244T= (p.Phe415=) c.1241T= (p.Phe414=) c.1034T= (p.Phe345=) c.554T= (p.Phe185=) | |
| 12 | g.47989250A>C | CA384555305 | COL2A1 | c.893T>G (p.Phe298Cys) c.1100T>G (p.Phe367Cys) c.1244T>G (p.Phe415Cys) c.1241T>G (p.Phe414Cys) c.1034T>G (p.Phe345Cys) c.554T>G (p.Phe185Cys) | |
| 12 | g.47989250A>G | CA384555304 | COL2A1 | c.893T>C (p.Phe298Ser) c.1100T>C (p.Phe367Ser) c.1244T>C (p.Phe415Ser) c.1241T>C (p.Phe414Ser) c.1034T>C (p.Phe345Ser) c.554T>C (p.Phe185Ser) | dbSNP |
| 12 | g.47989250A>T | CA384555302 | COL2A1 | c.893T>A (p.Phe298Tyr) c.1100T>A (p.Phe367Tyr) c.1244T>A (p.Phe415Tyr) c.1241T>A (p.Phe414Tyr) c.1034T>A (p.Phe345Tyr) c.554T>A (p.Phe185Tyr) | |
| 12 | g.47989251del | CA2573148709 | COL2A1 | c.893del (p.Phe298SerfsTer?) c.1100del (p.Phe367SerfsTer?) c.1244del (p.Phe415SerfsTer?) c.1241del (p.Phe414SerfsTer?) c.1034del (p.Phe345SerfsTer?) c.554del (p.Phe185SerfsTer?) | ClinVar dbSNP |
| 12 | g.47989251A>C | CA384555307 | COL2A1 | c.892T>G (p.Phe298Val) c.1099T>G (p.Phe367Val) c.1243T>G (p.Phe415Val) c.1240T>G (p.Phe414Val) c.1033T>G (p.Phe345Val) c.553T>G (p.Phe185Val) | COSMIC COSMIC |
| 12 | g.47989251A>G | CA384555309 | COL2A1 | c.892T>C (p.Phe298Leu) c.1099T>C (p.Phe367Leu) c.1243T>C (p.Phe415Leu) c.1240T>C (p.Phe414Leu) c.1033T>C (p.Phe345Leu) c.553T>C (p.Phe185Leu) | |
| 12 | g.47989251A>T | CA384555310 | COL2A1 | c.892T>A (p.Phe298Ile) c.1099T>A (p.Phe367Ile) c.1243T>A (p.Phe415Ile) c.1240T>A (p.Phe414Ile) c.1033T>A (p.Phe345Ile) c.553T>A (p.Phe185Ile) | |
| 12 | g.47989252G>A | CA479476386 | COL2A1 | c.891C>T (p.Gly297=) c.1098C>T (p.Gly366=) c.1242C>T (p.Gly414=) c.1239C>T (p.Gly413=) c.1032C>T (p.Gly344=) c.552C>T (p.Gly184=) | gnomAD v4 |
| 12 | g.47989252G>C | CA479476389 | COL2A1 | c.891C>G (p.Gly297=) c.1098C>G (p.Gly366=) c.1242C>G (p.Gly414=) c.1239C>G (p.Gly413=) c.1032C>G (p.Gly344=) c.552C>G (p.Gly184=) | |
| 12 | g.47989252G>T | CA479476392 | COL2A1 | c.891C>A (p.Gly297=) c.1098C>A (p.Gly366=) c.1242C>A (p.Gly414=) c.1239C>A (p.Gly413=) c.1032C>A (p.Gly344=) c.552C>A (p.Gly184=) | |
| 12 | g.47989253C>A | CA384555313 | COL2A1 | c.890G>T (p.Gly297Val) c.1097G>T (p.Gly366Val) c.1241G>T (p.Gly414Val) c.1238G>T (p.Gly413Val) c.1031G>T (p.Gly344Val) c.551G>T (p.Gly184Val) | |
| 12 | g.47989253C>G | CA384555315 | COL2A1 | c.890G>C (p.Gly297Ala) c.1097G>C (p.Gly366Ala) c.1241G>C (p.Gly414Ala) c.1238G>C (p.Gly413Ala) c.1031G>C (p.Gly344Ala) c.551G>C (p.Gly184Ala) | |
| 12 | g.47989253C>T | CA384555316 | COL2A1 | c.890G>A (p.Gly297Asp) c.1097G>A (p.Gly366Asp) c.1241G>A (p.Gly414Asp) c.1238G>A (p.Gly413Asp) c.1031G>A (p.Gly344Asp) c.551G>A (p.Gly184Asp) | |
| 12 | g.47989254C>A | CA384555318 | COL2A1 | c.889G>T (p.Gly297Cys) c.1096G>T (p.Gly366Cys) c.1240G>T (p.Gly414Cys) c.1237G>T (p.Gly413Cys) c.1030G>T (p.Gly344Cys) c.550G>T (p.Gly184Cys) | |
| 12 | g.47989254C>G | CA384555320 | COL2A1 | c.889G>C (p.Gly297Arg) c.1096G>C (p.Gly366Arg) c.1240G>C (p.Gly414Arg) c.1237G>C (p.Gly413Arg) c.1030G>C (p.Gly344Arg) c.550G>C (p.Gly184Arg) | |
| 12 | g.47989254C>T | CA384555322 | COL2A1 | c.889G>A (p.Gly297Ser) c.1096G>A (p.Gly366Ser) c.1240G>A (p.Gly414Ser) c.1237G>A (p.Gly413Ser) c.1030G>A (p.Gly344Ser) c.550G>A (p.Gly184Ser) | |
| 12 | g.47989261_47989272del | CA2499221678 | COL2A1 | c.878_889del (p.Ala293_Pro296del) c.1085_1096del (p.Ala362_Pro365del) c.1229_1240del (p.Ala410_Pro413del) c.1226_1237del (p.Ala409_Pro412del) c.1019_1030del (p.Ala340_Pro343del) c.539_550del (p.Ala180_Pro183del) | ClinVar dbSNP |
| 12 | g.47989261_47989281del | CA2695216288 | COL2A1 | c.869_889del (p.Val290_Pro296del) c.1076_1096del (p.Val359_Pro365del) c.1220_1240del (p.Val407_Pro413del) c.1217_1237del (p.Val406_Pro412del) c.1010_1030del (p.Val337_Pro343del) c.530_550del (p.Val177_Pro183del) | |
| 12 | g.47989255del | CA2695216289 | COL2A1 | c.888del (p.Gly297AlafsTer?) c.1095del (p.Gly366AlafsTer?) c.1239del (p.Gly414AlafsTer?) c.1236del (p.Gly413AlafsTer?) c.1029del (p.Gly344AlafsTer?) c.549del (p.Gly184AlafsTer?) | |
| 12 | g.47989255A>C | CA479476421 | COL2A1 | c.888T>G (p.Pro296=) c.1095T>G (p.Pro365=) c.1239T>G (p.Pro413=) c.1236T>G (p.Pro412=) c.1029T>G (p.Pro343=) c.549T>G (p.Pro183=) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47989255A>G | CA479476424 | COL2A1 | c.888T>C (p.Pro296=) c.1095T>C (p.Pro365=) c.1239T>C (p.Pro413=) c.1236T>C (p.Pro412=) c.1029T>C (p.Pro343=) c.549T>C (p.Pro183=) | |
| 12 | g.47989255A>T | CA479476428 | COL2A1 | c.888T>A (p.Pro296=) c.1095T>A (p.Pro365=) c.1239T>A (p.Pro413=) c.1236T>A (p.Pro412=) c.1029T>A (p.Pro343=) c.549T>A (p.Pro183=) | |
| 12 | g.47989256G>A | CA384555324 | COL2A1 | c.887C>T (p.Pro296Leu) c.1094C>T (p.Pro365Leu) c.1238C>T (p.Pro413Leu) c.1235C>T (p.Pro412Leu) c.1028C>T (p.Pro343Leu) c.548C>T (p.Pro183Leu) | |
| 12 | g.47989256G>C | CA384555326 | COL2A1 | c.887C>G (p.Pro296Arg) c.1094C>G (p.Pro365Arg) c.1238C>G (p.Pro413Arg) c.1235C>G (p.Pro412Arg) c.1028C>G (p.Pro343Arg) c.548C>G (p.Pro183Arg) | |
| 12 | g.47989256G>T | CA384555328 | COL2A1 | c.887C>A (p.Pro296His) c.1094C>A (p.Pro365His) c.1238C>A (p.Pro413His) c.1235C>A (p.Pro412His) c.1028C>A (p.Pro343His) c.548C>A (p.Pro183His) | |
| 12 | g.47989257G>A | CA384555333 | COL2A1 | c.886C>T (p.Pro296Ser) c.1093C>T (p.Pro365Ser) c.1237C>T (p.Pro413Ser) c.1234C>T (p.Pro412Ser) c.1027C>T (p.Pro343Ser) c.547C>T (p.Pro183Ser) | gnomAD v4 |
| 12 | g.47989257G>C | CA384555331 | COL2A1 | c.886C>G (p.Pro296Ala) c.1093C>G (p.Pro365Ala) c.1237C>G (p.Pro413Ala) c.1234C>G (p.Pro412Ala) c.1027C>G (p.Pro343Ala) c.547C>G (p.Pro183Ala) | |
| 12 | g.47989257G>T | CA384555329 | COL2A1 | c.886C>A (p.Pro296Thr) c.1093C>A (p.Pro365Thr) c.1237C>A (p.Pro413Thr) c.1234C>A (p.Pro412Thr) c.1027C>A (p.Pro343Thr) c.547C>A (p.Pro183Thr) | |
| 12 | g.47989258A= | CA2034461403 | COL2A1 | c.885T= (p.Gly295=) c.1092T= (p.Gly364=) c.1236T= (p.Gly412=) c.1233T= (p.Gly411=) c.1026T= (p.Gly342=) c.546T= (p.Gly182=) | |
| 12 | g.47989258A>C | CA479476457 | COL2A1 | c.885T>G (p.Gly295=) c.1092T>G (p.Gly364=) c.1236T>G (p.Gly412=) c.1233T>G (p.Gly411=) c.1026T>G (p.Gly342=) c.546T>G (p.Gly182=) |