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 |
|---|---|---|---|---|---|
| 4 | g.46312490del | CA551265136 | GABRA2 | c.476+10del (n.476+10del) c.*207+10del (n.*207+10del) c.224+10del (n.224+10del) c.311+10del (n.311+10del) | dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.46312489_46312490del | CA2670518667 | GABRA2 | c.476+9_476+10del (n.476+9_476+10del) c.*207+9_*207+10del (n.*207+9_*207+10del) c.224+9_224+10del (n.224+9_224+10del) c.311+9_311+10del (n.311+9_311+10del) | gnomAD v4 |
| 4 | g.46312487A= | CA1454779708 | GABRA2 | c.476+9T= (n.476+9T=) c.*207+9T= (n.*207+9T=) c.224+9T= (n.224+9T=) c.311+9T= (n.311+9T=) | |
| 4 | g.46312487A>C | CA1454779709 | GABRA2 | c.476+9T>G (n.476+9T>G) c.*207+9T>G (n.*207+9T>G) c.224+9T>G (n.224+9T>G) c.311+9T>G (n.311+9T>G) | ClinVar dbSNP |
| 4 | g.46312489A>T | CA2670518669 | GABRA2 | c.476+7T>A (n.476+7T>A) c.*207+7T>A (n.*207+7T>A) c.224+7T>A (n.224+7T>A) c.311+7T>A (n.311+7T>A) | gnomAD v4 |
| 4 | g.46312490A>C | CA2670518670 | GABRA2 | c.476+6T>G (n.476+6T>G) c.*207+6T>G (n.*207+6T>G) c.224+6T>G (n.224+6T>G) c.311+6T>G (n.311+6T>G) | gnomAD v4 |
| 4 | g.46312490A>G | CA2670518671 | GABRA2 | c.476+6T>C (n.476+6T>C) c.*207+6T>C (n.*207+6T>C) c.224+6T>C (n.224+6T>C) c.311+6T>C (n.311+6T>C) | gnomAD v4 |
| 4 | g.46312491C= | CA1454779710 | GABRA2 | c.476+5G= (n.476+5G=) c.*207+5G= (n.*207+5G=) c.224+5G= (n.224+5G=) c.311+5G= (n.311+5G=) | |
| 4 | g.46312491C>T | CA551265137 | GABRA2 | c.476+5G>A (n.476+5G>A) c.*207+5G>A (n.*207+5G>A) c.224+5G>A (n.224+5G>A) c.311+5G>A (n.311+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 4 | g.46312493T>C | CA2597095662 | GABRA2 | c.476+3A>G (n.476+3A>G) c.*207+3A>G (n.*207+3A>G) c.224+3A>G (n.224+3A>G) c.311+3A>G (n.311+3A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 4 | g.46312494A>C | CA356799571 | GABRA2 | c.476+2T>G (n.476+2T>G) c.*207+2T>G (n.*207+2T>G) c.224+2T>G (n.224+2T>G) c.311+2T>G (n.311+2T>G) | |
| 4 | g.46312494A>G | CA356799574 | GABRA2 | c.476+2T>C (n.476+2T>C) c.*207+2T>C (n.*207+2T>C) c.224+2T>C (n.224+2T>C) c.311+2T>C (n.311+2T>C) | |
| 4 | g.46312494A>T | CA356799577 | GABRA2 | c.476+2T>A (n.476+2T>A) c.*207+2T>A (n.*207+2T>A) c.224+2T>A (n.224+2T>A) c.311+2T>A (n.311+2T>A) | |
| 4 | g.46312495C>A | CA356799587 | GABRA2 | c.476+1G>T (n.476+1G>T) c.*207+1G>T (n.*207+1G>T) c.224+1G>T (n.224+1G>T) c.311+1G>T (n.311+1G>T) | gnomAD v4 |
| 4 | g.46312495C>G | CA356799590 | GABRA2 | c.476+1G>C (n.476+1G>C) c.*207+1G>C (n.*207+1G>C) c.224+1G>C (n.224+1G>C) c.311+1G>C (n.311+1G>C) | |
| 4 | g.46312495C>T | CA356799593 | GABRA2 | c.476+1G>A (n.476+1G>A) c.*207+1G>A (n.*207+1G>A) c.224+1G>A (n.224+1G>A) c.311+1G>A (n.311+1G>A) | |
| 4 | g.46312496C>A | CA356799602 | GABRA2 | c.476G>T (p.Arg159Met) c.*207G>T (n.*207G>T) c.224G>T (p.Arg75Met) c.311G>T (p.Arg104Met) | |
| 4 | g.46312496C>G | CA356799604 | GABRA2 | c.476G>C (p.Arg159Thr) c.*207G>C (n.*207G>C) c.224G>C (p.Arg75Thr) c.311G>C (p.Arg104Thr) | |
| 4 | g.46312496C>T | CA356799607 | GABRA2 | c.476G>A (p.Arg159Lys) c.*207G>A (n.*207G>A) c.224G>A (p.Arg75Lys) c.311G>A (p.Arg104Lys) | gnomAD v4 |
| 4 | g.46312497T>A | CA356799608 | GABRA2 | c.475A>T (p.Arg159Trp) c.*206A>T (n.*206A>T) c.223A>T (p.Arg75Trp) c.310A>T (p.Arg104Trp) | |
| 4 | g.46312497T>C | CA356799612 | GABRA2 | c.475A>G (p.Arg159Gly) c.*206A>G (n.*206A>G) c.223A>G (p.Arg75Gly) c.310A>G (p.Arg104Gly) | |
| 4 | g.46312497T>G | CA439237307 | GABRA2 | c.475A>C (p.Arg159=) c.*206A>C (n.*206A>C) c.223A>C (p.Arg75=) c.310A>C (p.Arg104=) | |
| 4 | g.46312498C>A | CA356799614 | GABRA2 | c.474G>T (p.Met158Ile) c.*205G>T (n.*205G>T) c.222G>T (p.Met74Ile) c.309G>T (p.Met103Ile) | |
| 4 | g.46312498C>G | CA356799617 | GABRA2 | c.474G>C (p.Met158Ile) c.*205G>C (n.*205G>C) c.222G>C (p.Met74Ile) c.309G>C (p.Met103Ile) | |
| 4 | g.46312498C>T | CA356799615 | GABRA2 | c.474G>A (p.Met158Ile) c.*205G>A (n.*205G>A) c.222G>A (p.Met74Ile) c.309G>A (p.Met103Ile) | |
| 4 | g.46312499A>C | CA356799618 | GABRA2 | c.473T>G (p.Met158Arg) c.*204T>G (n.*204T>G) c.221T>G (p.Met74Arg) c.308T>G (p.Met103Arg) | |
| 4 | g.46312499A>G | CA356799621 | GABRA2 | c.473T>C (p.Met158Thr) c.*204T>C (n.*204T>C) c.221T>C (p.Met74Thr) c.308T>C (p.Met103Thr) | |
| 4 | g.46312499A>T | CA356799623 | GABRA2 | c.473T>A (p.Met158Lys) c.*204T>A (n.*204T>A) c.221T>A (p.Met74Lys) c.308T>A (p.Met103Lys) | |
| 4 | g.46312500T>A | CA356799626 | GABRA2 | c.472A>T (p.Met158Leu) c.*203A>T (n.*203A>T) c.220A>T (p.Met74Leu) c.307A>T (p.Met103Leu) | |
| 4 | g.46312500T>C | CA356799629 | GABRA2 | c.472A>G (p.Met158Val) c.*203A>G (n.*203A>G) c.220A>G (p.Met74Val) c.307A>G (p.Met103Val) | |
| 4 | g.46312500T>G | CA356799630 | GABRA2 | c.472A>C (p.Met158Leu) c.*203A>C (n.*203A>C) c.220A>C (p.Met74Leu) c.307A>C (p.Met103Leu) | |
| 4 | g.46312501G>A | CA439237308 | GABRA2 | c.471C>T (p.Thr157=) c.*202C>T (n.*202C>T) c.219C>T (p.Thr73=) c.306C>T (p.Thr102=) | COSMIC COSMIC |
| 4 | g.46312501G>C | CA439237309 | GABRA2 | c.471C>G (p.Thr157=) c.*202C>G (n.*202C>G) c.219C>G (p.Thr73=) c.306C>G (p.Thr102=) | |
| 4 | g.46312501G= | CA1454779711 | GABRA2 | c.471C= (p.Thr157=) c.*202C= (n.*202C=) c.219C= (p.Thr73=) c.306C= (p.Thr102=) | |
| 4 | g.46312501G>T | CA439237310 | GABRA2 | c.471C>A (p.Thr157=) c.*202C>A (n.*202C>A) c.219C>A (p.Thr73=) c.306C>A (p.Thr102=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 4 | g.46312502G>A | CA356799634 | GABRA2 | c.470C>T (p.Thr157Ile) c.*201C>T (n.*201C>T) c.218C>T (p.Thr73Ile) c.305C>T (p.Thr102Ile) | |
| 4 | g.46312502G>C | CA356799637 | GABRA2 | c.470C>G (p.Thr157Ser) c.*201C>G (n.*201C>G) c.218C>G (p.Thr73Ser) c.305C>G (p.Thr102Ser) | |
| 4 | g.46312502G>T | CA356799638 | GABRA2 | c.470C>A (p.Thr157Asn) c.*201C>A (n.*201C>A) c.218C>A (p.Thr73Asn) c.305C>A (p.Thr102Asn) | gnomAD v4 |
| 4 | g.46312503T>A | CA356799642 | GABRA2 | c.469A>T (p.Thr157Ser) c.*200A>T (n.*200A>T) c.217A>T (p.Thr73Ser) c.304A>T (p.Thr102Ser) | |
| 4 | g.46312503T>C | CA356799651 | GABRA2 | c.469A>G (p.Thr157Ala) c.*200A>G (n.*200A>G) c.217A>G (p.Thr73Ala) c.304A>G (p.Thr102Ala) | |
| 4 | g.46312503T>G | CA356799654 | GABRA2 | c.469A>C (p.Thr157Pro) c.*200A>C (n.*200A>C) c.217A>C (p.Thr73Pro) c.304A>C (p.Thr102Pro) | |
| 4 | g.46312504A>C | CA356799659 | GABRA2 | c.468T>G (p.Tyr156Ter) c.*199T>G (n.*199T>G) c.216T>G (p.Tyr72Ter) c.303T>G (p.Tyr101Ter) | |
| 4 | g.46312504A>G | CA439237311 | GABRA2 | c.468T>C (p.Tyr156=) c.*199T>C (n.*199T>C) c.216T>C (p.Tyr72=) c.303T>C (p.Tyr101=) | |
| 4 | g.46312504A>T | CA356799657 | GABRA2 | c.468T>A (p.Tyr156Ter) c.*199T>A (n.*199T>A) c.216T>A (p.Tyr72Ter) c.303T>A (p.Tyr101Ter) | |
| 4 | g.46312505T>A | CA356799660 | GABRA2 | c.467A>T (p.Tyr156Phe) c.*198A>T (n.*198A>T) c.215A>T (p.Tyr72Phe) c.302A>T (p.Tyr101Phe) | |
| 4 | g.46312505T>C | CA356799663 | GABRA2 | c.467A>G (p.Tyr156Cys) c.*198A>G (n.*198A>G) c.215A>G (p.Tyr72Cys) c.302A>G (p.Tyr101Cys) | |
| 4 | g.46312505T>G | CA356799667 | GABRA2 | c.467A>C (p.Tyr156Ser) c.*198A>C (n.*198A>C) c.215A>C (p.Tyr72Ser) c.302A>C (p.Tyr101Ser) | |
| 4 | g.46312506A>C | CA356799669 | GABRA2 | c.466T>G (p.Tyr156Asp) c.*197T>G (n.*197T>G) c.214T>G (p.Tyr72Asp) c.301T>G (p.Tyr101Asp) | |
| 4 | g.46312506A>G | CA356799676 | GABRA2 | c.466T>C (p.Tyr156His) c.*197T>C (n.*197T>C) c.214T>C (p.Tyr72His) c.301T>C (p.Tyr101His) | |
| 4 | g.46312506A>T | CA356799679 | GABRA2 | c.466T>A (p.Tyr156Asn) c.*197T>A (n.*197T>A) c.214T>A (p.Tyr72Asn) c.301T>A (p.Tyr101Asn) |