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 |
|---|---|---|---|---|---|
| 3 | g.128479422_128481318dup | CA1139532682 | |||
| 3 | g.128481025C>A | CA83376175 | GATA2 | c.1437G>T (p.Met479Ile) c.1719G>T (p.Met573Ile) c.412G>T (p.Gly138Trp) c.1395G>T (p.Met465Ile) n.554G>T | dbSNP gnomAD v4 |
| 3 | g.128481025C= | CA1400713670 | GATA2 | c.1437G= (p.Met479=) c.1719G= (p.Met573=) c.412G= (p.Gly138=) c.1395G= (p.Met465=) n.554G= | |
| 3 | g.128481025C>G | CA354412380 | GATA2 | c.1437G>C (p.Met479Ile) c.1719G>C (p.Met573Ile) c.412G>C (p.Gly138Arg) c.1395G>C (p.Met465Ile) n.554G>C | |
| 3 | g.128481025C>T | CA83376177 | GATA2 | c.1437G>A (p.Met479Ile) c.1719G>A (p.Met573Ile) c.412G>A (p.Gly138Arg) c.1395G>A (p.Met465Ile) n.554G>A | dbSNP COSMIC |
| 3 | g.128481026A= | CA1400713676 | GATA2 | c.1436T= (p.Met479=) c.1718T= (p.Met573=) c.411T= (p.His137=) c.1394T= (p.Met465=) n.553T= | |
| 3 | g.128481026A>C | CA354412383 | GATA2 | c.1436T>G (p.Met479Arg) c.1718T>G (p.Met573Arg) c.411T>G (p.His137Gln) c.1394T>G (p.Met465Arg) n.553T>G | |
| 3 | g.128481026A>G | CA354412384 | GATA2 | c.1436T>C (p.Met479Thr) c.1718T>C (p.Met573Thr) c.411T>C (p.His137=) c.1394T>C (p.Met465Thr) n.553T>C | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481026A>T | CA354412386 | GATA2 | c.1436T>A (p.Met479Lys) c.1718T>A (p.Met573Lys) c.411T>A (p.His137Gln) c.1394T>A (p.Met465Lys) n.553T>A | |
| 3 | g.128481027T>A | CA354412387 | GATA2 | c.1435A>T (p.Met479Leu) c.1717A>T (p.Met573Leu) c.410A>T (p.His137Leu) c.1393A>T (p.Met465Leu) n.552A>T | |
| 3 | g.128481027T>C | CA354412390 | GATA2 | c.1435A>G (p.Met479Val) c.1717A>G (p.Met573Val) c.410A>G (p.His137Arg) c.1393A>G (p.Met465Val) n.552A>G | gnomAD v4 |
| 3 | g.128481027T>G | CA354412389 | GATA2 | c.1435A>C (p.Met479Leu) c.1717A>C (p.Met573Leu) c.410A>C (p.His137Pro) c.1393A>C (p.Met465Leu) n.552A>C | |
| 3 | g.128481028G>A | CA435524221 | GATA2 | c.1434C>T (p.Ala478=) c.1716C>T (p.Ala572=) c.409C>T (p.His137Tyr) c.1392C>T (p.Ala464=) n.551C>T | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 3 | g.128481028G>C | CA435524222 | GATA2 | c.1434C>G (p.Ala478=) c.1716C>G (p.Ala572=) c.409C>G (p.His137Asp) c.1392C>G (p.Ala464=) n.551C>G | |
| 3 | g.128481028G= | CA1400713678 | GATA2 | c.1434C= (p.Ala478=) c.1716C= (p.Ala572=) c.409C= (p.His137=) c.1392C= (p.Ala464=) n.551C= | |
| 3 | g.128481028G>T | CA435524223 | GATA2 | c.1434C>A (p.Ala478=) c.1716C>A (p.Ala572=) c.409C>A (p.His137Asn) c.1392C>A (p.Ala464=) n.551C>A | gnomAD v4 |
| 3 | g.128481029G>A | CA354412392 | GATA2 | c.1433C>T (p.Ala478Val) c.1715C>T (p.Ala572Val) c.408C>T (p.Arg136=) c.1391C>T (p.Ala464Val) n.550C>T | ClinVar dbSNP |
| 3 | g.128481029G>C | CA354412395 | GATA2 | c.1433C>G (p.Ala478Gly) c.1715C>G (p.Ala572Gly) c.408C>G (p.Arg136=) c.1391C>G (p.Ala464Gly) n.550C>G | |
| 3 | g.128481029G= | CA1400713685 | GATA2 | c.1433C= (p.Ala478=) c.1715C= (p.Ala572=) c.408C= (p.Arg136=) c.1391C= (p.Ala464=) n.550C= | |
| 3 | g.128481029G>T | CA354412394 | GATA2 | c.1433C>A (p.Ala478Asp) c.1715C>A (p.Ala572Asp) c.408C>A (p.Arg136=) c.1391C>A (p.Ala464Asp) n.550C>A | |
| 3 | g.128481030C>A | CA354412397 | GATA2 | c.1432G>T (p.Ala478Ser) c.1714G>T (p.Ala572Ser) c.407G>T (p.Arg136Leu) c.1390G>T (p.Ala464Ser) n.549G>T | gnomAD v4 COSMIC |
| 3 | g.128481030C= | CA1400713689 | GATA2 | c.1432G= (p.Ala478=) c.1714G= (p.Ala572=) c.407G= (p.Arg136=) c.1390G= (p.Ala464=) n.549G= | |
| 3 | g.128481030C>G | CA354412398 | GATA2 | c.1432G>C (p.Ala478Pro) c.1714G>C (p.Ala572Pro) c.407G>C (p.Arg136Pro) c.1390G>C (p.Ala464Pro) n.549G>C | |
| 3 | g.128481030C>T | CA2599772 | GATA2 | c.1432G>A (p.Ala478Thr) c.1714G>A (p.Ala572Thr) c.407G>A (p.Arg136His) c.1390G>A (p.Ala464Thr) n.549G>A | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 3 | g.128481031G>A | CA2599773 | GATA2 | c.1431C>T (p.Thr477=) c.1713C>T (p.Thr571=) c.406C>T (p.Arg136Cys) c.1389C>T (p.Thr463=) n.548C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 3 | g.128481031G>C | CA435524230 | GATA2 | c.1431C>G (p.Thr477=) c.1713C>G (p.Thr571=) c.406C>G (p.Arg136Gly) c.1389C>G (p.Thr463=) n.548C>G | gnomAD v4 |
| 3 | g.128481031G= | CA1400713693 | GATA2 | c.1431C= (p.Thr477=) c.1713C= (p.Thr571=) c.406C= (p.Arg136=) c.1389C= (p.Thr463=) n.548C= | |
| 3 | g.128481031G>T | CA435524231 | GATA2 | c.1431C>A (p.Thr477=) c.1713C>A (p.Thr571=) c.406C>A (p.Arg136Ser) c.1389C>A (p.Thr463=) n.548C>A | gnomAD v4 |
| 3 | g.128481032G>A | CA354412402 | GATA2 | c.1430C>T (p.Thr477Ile) c.1712C>T (p.Thr571Ile) c.405C>T (p.Asp135=) c.1388C>T (p.Thr463Ile) n.547C>T | ClinVar dbSNP gnomAD v4 COSMIC |
| 3 | g.128481032G>C | CA354412403 | GATA2 | c.1430C>G (p.Thr477Ser) c.1712C>G (p.Thr571Ser) c.405C>G (p.Asp135Glu) c.1388C>G (p.Thr463Ser) n.547C>G | |
| 3 | g.128481032G= | CA1400713698 | GATA2 | c.1430C= (p.Thr477=) c.1712C= (p.Thr571=) c.405C= (p.Asp135=) c.1388C= (p.Thr463=) n.547C= | |
| 3 | g.128481032G>T | CA354412404 | GATA2 | c.1430C>A (p.Thr477Asn) c.1712C>A (p.Thr571Asn) c.405C>A (p.Asp135Glu) c.1388C>A (p.Thr463Asn) n.547C>A | |
| 3 | g.128481033T>A | CA354412406 | GATA2 | c.1429A>T (p.Thr477Ser) c.1711A>T (p.Thr571Ser) c.404A>T (p.Asp135Val) c.1387A>T (p.Thr463Ser) n.546A>T | dbSNP |
| 3 | g.128481033T>C | CA354412408 | GATA2 | c.1429A>G (p.Thr477Ala) c.1711A>G (p.Thr571Ala) c.404A>G (p.Asp135Gly) c.1387A>G (p.Thr463Ala) n.546A>G | ClinVar dbSNP |
| 3 | g.128481033T>G | CA354412410 | GATA2 | c.1429A>C (p.Thr477Pro) c.1711A>C (p.Thr571Pro) c.404A>C (p.Asp135Ala) c.1387A>C (p.Thr463Pro) n.546A>C | dbSNP |
| 3 | g.128481034C>A | CA435524237 | GATA2 | c.1428G>T (p.Val476=) c.1710G>T (p.Val570=) c.403G>T (p.Asp135Tyr) c.1386G>T (p.Val462=) n.545G>T | |
| 3 | g.128481034C= | CA1400713701 | GATA2 | c.1428G= (p.Val476=) c.1710G= (p.Val570=) c.403G= (p.Asp135=) c.1386G= (p.Val462=) n.545G= | |
| 3 | g.128481034C>G | CA435524238 | GATA2 | c.1428G>C (p.Val476=) c.1710G>C (p.Val570=) c.403G>C (p.Asp135His) c.1386G>C (p.Val462=) n.545G>C | |
| 3 | g.128481034C>T | CA435524240 | GATA2 | c.1428G>A (p.Val476=) c.1710G>A (p.Val570=) c.403G>A (p.Asp135Asn) c.1386G>A (p.Val462=) n.545G>A | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481035A= | CA1400713703 | GATA2 | c.1427T= (p.Val476=) c.1709T= (p.Val570=) c.402T= (p.Gly134=) c.1385T= (p.Val462=) n.544T= | |
| 3 | g.128481035A>C | CA354412414 | GATA2 | c.1427T>G (p.Val476Gly) c.1709T>G (p.Val570Gly) c.402T>G (p.Gly134=) c.1385T>G (p.Val462Gly) n.544T>G | |
| 3 | g.128481035A>G | CA354412413 | GATA2 | c.1427T>C (p.Val476Ala) c.1709T>C (p.Val570Ala) c.402T>C (p.Gly134=) c.1385T>C (p.Val462Ala) n.544T>C | ClinVar dbSNP |
| 3 | g.128481035A>T | CA354412411 | GATA2 | c.1427T>A (p.Val476Glu) c.1709T>A (p.Val570Glu) c.402T>A (p.Gly134=) c.1385T>A (p.Val462Glu) n.544T>A | |
| 3 | g.128481036C>A | CA354412416 | GATA2 | c.1426G>T (p.Val476Leu) c.1708G>T (p.Val570Leu) c.401G>T (p.Gly134Val) c.1384G>T (p.Val462Leu) n.543G>T | |
| 3 | g.128481036C= | CA1400713704 | GATA2 | c.1426G= (p.Val476=) c.1708G= (p.Val570=) c.401G= (p.Gly134=) c.1384G= (p.Val462=) n.543G= | |
| 3 | g.128481036C>G | CA354412417 | GATA2 | c.1426G>C (p.Val476Leu) c.1708G>C (p.Val570Leu) c.401G>C (p.Gly134Ala) c.1384G>C (p.Val462Leu) n.543G>C | |
| 3 | g.128481036C>T | CA354412419 | GATA2 | c.1426G>A (p.Val476Met) c.1708G>A (p.Val570Met) c.401G>A (p.Gly134Asp) c.1384G>A (p.Val462Met) n.543G>A | ClinVar dbSNP gnomAD v2 |
| 3 | g.128481037C>A | CA354412421 | GATA2 | c.1425G>T (p.Met475Ile) c.1707G>T (p.Met569Ile) c.400G>T (p.Gly134Cys) c.1383G>T (p.Met461Ile) n.542G>T | |
| 3 | g.128481037C>G | CA354412422 | GATA2 | c.1425G>C (p.Met475Ile) c.1707G>C (p.Met569Ile) c.400G>C (p.Gly134Arg) c.1383G>C (p.Met461Ile) n.542G>C | |
| 3 | g.128481037C>T | CA354412424 | GATA2 | c.1425G>A (p.Met475Ile) c.1707G>A (p.Met569Ile) c.400G>A (p.Gly134Ser) c.1383G>A (p.Met461Ile) n.542G>A |