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.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) | |
| 4 | g.46312507C>A | CA439237313 | GABRA2 | c.465G>T (p.Leu155=) c.*196G>T (n.*196G>T) c.213G>T (p.Leu71=) c.300G>T (p.Leu100=) | |
| 4 | g.46312507C>G | CA439237314 | GABRA2 | c.465G>C (p.Leu155=) c.*196G>C (n.*196G>C) c.213G>C (p.Leu71=) c.300G>C (p.Leu100=) | |
| 4 | g.46312507C>T | CA439237312 | GABRA2 | c.465G>A (p.Leu155=) c.*196G>A (n.*196G>A) c.213G>A (p.Leu71=) c.300G>A (p.Leu100=) | COSMIC COSMIC |
| 4 | g.46312508A>C | CA356799682 | GABRA2 | c.464T>G (p.Leu155Arg) c.*195T>G (n.*195T>G) c.212T>G (p.Leu71Arg) c.299T>G (p.Leu100Arg) | |
| 4 | g.46312508A>G | CA356799689 | GABRA2 | c.464T>C (p.Leu155Pro) c.*195T>C (n.*195T>C) c.212T>C (p.Leu71Pro) c.299T>C (p.Leu100Pro) | |
| 4 | g.46312508A>T | CA356799691 | GABRA2 | c.464T>A (p.Leu155Gln) c.*195T>A (n.*195T>A) c.212T>A (p.Leu71Gln) c.299T>A (p.Leu100Gln) | |
| 4 | g.46312509G>A | CA439237315 | GABRA2 | c.463C>T (p.Leu155=) c.*194C>T (n.*194C>T) c.211C>T (p.Leu71=) c.298C>T (p.Leu100=) | gnomAD v4 |
| 4 | g.46312509G>C | CA356799694 | GABRA2 | c.463C>G (p.Leu155Val) c.*194C>G (n.*194C>G) c.211C>G (p.Leu71Val) c.298C>G (p.Leu100Val) | |
| 4 | g.46312509G>T | CA356799698 | GABRA2 | c.463C>A (p.Leu155Met) c.*194C>A (n.*194C>A) c.211C>A (p.Leu71Met) c.298C>A (p.Leu100Met) | |
| 4 | g.46312509_46312511delinsGCA | CA1454779712 | GABRA2 | c.461_463delinsTGC (p.Leu154=) c.*192_*194delinsTGC (n.*192_*194delinsTGC) c.209_211delinsTGC (p.Leu70=) c.296_298delinsTGC (p.Leu99=) | |
| 4 | g.46312510C>A | CA439237316 | GABRA2 | c.462G>T (p.Leu154=) c.*193G>T (n.*193G>T) c.210G>T (p.Leu70=) c.297G>T (p.Leu99=) | |
| 4 | g.46312510C= | CA1454779713 | GABRA2 | c.462G= (p.Leu154=) c.*193G= (n.*193G=) c.210G= (p.Leu70=) c.297G= (p.Leu99=) | |
| 4 | g.46312510C>G | CA439237317 | GABRA2 | c.462G>C (p.Leu154=) c.*193G>C (n.*193G>C) c.210G>C (p.Leu70=) c.297G>C (p.Leu99=) | |
| 4 | g.46312510C>T | CA2906719 | GABRA2 | c.462G>A (p.Leu154=) c.*193G>A (n.*193G>A) c.210G>A (p.Leu70=) c.297G>A (p.Leu99=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 4 | g.46312510_46312511del | CA2906718 | GABRA2 | c.461_462del (p.Leu154ProfsTer11) c.461_462del (p.Leu154ProfsTer10) c.*192_*193del (n.*192_*193del) c.209_210del (p.Leu70ProfsTer11) c.296_297del (p.Leu99ProfsTer11) | dbSNP ExAC gnomAD v2 |
| 4 | g.46312511A>C | CA356799705 | GABRA2 | c.461T>G (p.Leu154Arg) c.*192T>G (n.*192T>G) c.209T>G (p.Leu70Arg) c.296T>G (p.Leu99Arg) |