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.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 | |
| 3 | g.128481038A>C | CA354412426 | GATA2 | c.1424T>G (p.Met475Arg) c.1706T>G (p.Met569Arg) c.399T>G (p.His133Gln) c.1382T>G (p.Met461Arg) n.541T>G | |
| 3 | g.128481038A>G | CA354412427 | GATA2 | c.1424T>C (p.Met475Thr) c.1706T>C (p.Met569Thr) c.399T>C (p.His133=) c.1382T>C (p.Met461Thr) n.541T>C | |
| 3 | g.128481038A>T | CA354412429 | GATA2 | c.1424T>A (p.Met475Lys) c.1706T>A (p.Met569Lys) c.399T>A (p.His133Gln) c.1382T>A (p.Met461Lys) n.541T>A | |
| 3 | g.128481039T>A | CA354412431 | GATA2 | c.1423A>T (p.Met475Leu) c.1705A>T (p.Met569Leu) c.398A>T (p.His133Leu) c.1381A>T (p.Met461Leu) n.540A>T | ClinVar dbSNP gnomAD v4 |
| 3 | g.128481039T>C | CA354412433 | GATA2 | c.1423A>G (p.Met475Val) c.1705A>G (p.Met569Val) c.398A>G (p.His133Arg) c.1381A>G (p.Met461Val) n.540A>G | ClinVar dbSNP gnomAD v2 |
| 3 | g.128481039T>G | CA354412434 | GATA2 | c.1423A>C (p.Met475Leu) c.1705A>C (p.Met569Leu) c.398A>C (p.His133Pro) c.1381A>C (p.Met461Leu) n.540A>C | dbSNP gnomAD v3 gnomAD v4 |
| 3 | g.128481039T= | CA1400713706 | GATA2 | c.1423A= (p.Met475=) c.1705A= (p.Met569=) c.398A= (p.His133=) c.1381A= (p.Met461=) n.540A= | |
| 3 | g.128481040G>A | CA435524250 | GATA2 | c.1422C>T (p.Ser474=) c.1704C>T (p.Ser568=) c.397C>T (p.His133Tyr) c.1380C>T (p.Ser460=) n.539C>T | |
| 3 | g.128481040G>C | CA354412438 | GATA2 | c.1422C>G (p.Ser474Arg) c.1704C>G (p.Ser568Arg) c.397C>G (p.His133Asp) c.1380C>G (p.Ser460Arg) n.539C>G | |
| 3 | g.128481040G>T | CA354412436 | GATA2 | c.1422C>A (p.Ser474Arg) c.1704C>A (p.Ser568Arg) c.397C>A (p.His133Asn) c.1380C>A (p.Ser460Arg) n.539C>A | gnomAD v4 |
| 3 | g.128481041C>A | CA354412440 | GATA2 | c.1421G>T (p.Ser474Ile) c.1703G>T (p.Ser568Ile) c.396G>T (p.Gln132His) c.1379G>T (p.Ser460Ile) n.538G>T | gnomAD v4 |
| 3 | g.128481041C= | CA1400713710 | GATA2 | c.1421G= (p.Ser474=) c.1703G= (p.Ser568=) c.396G= (p.Gln132=) c.1379G= (p.Ser460=) n.538G= | |
| 3 | g.128481041C>G | CA354412442 | GATA2 | c.1421G>C (p.Ser474Thr) c.1703G>C (p.Ser568Thr) c.396G>C (p.Gln132His) c.1379G>C (p.Ser460Thr) n.538G>C | ClinVar dbSNP |
| 3 | g.128481041C>T | CA354412443 | GATA2 | c.1421G>A (p.Ser474Asn) c.1703G>A (p.Ser568Asn) c.396G>A (p.Gln132=) c.1379G>A (p.Ser460Asn) n.538G>A | dbSNP |
| 3 | g.128481042T>A | CA354412445 | GATA2 | c.1420A>T (p.Ser474Cys) c.1702A>T (p.Ser568Cys) c.395A>T (p.Gln132Leu) c.1378A>T (p.Ser460Cys) n.537A>T |