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 |
|---|---|---|---|---|---|
| 12 | g.1780578T>A | CA383652254 | ADIPOR2 | c.591T>A (p.Phe197Leu) n.431T>A c.463+2553T>A (n.463+2553T>A) | |
| 12 | g.1780578T>C | CA478097014 | ADIPOR2 | c.591T>C (p.Phe197=) n.431T>C c.463+2553T>C (n.463+2553T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.1780578T>G | CA383652255 | ADIPOR2 | c.591T>G (p.Phe197Leu) n.431T>G c.463+2553T>G (n.463+2553T>G) | |
| 12 | g.1780578T= | CA2012138932 | ADIPOR2 | c.591T= (p.Phe197=) n.431T= c.463+2553T= (n.463+2553T=) | |
| 12 | g.1780579T>A | CA383652258 | ADIPOR2 | c.592T>A (p.Ser198Thr) n.432T>A c.463+2554T>A (n.463+2554T>A) | |
| 12 | g.1780579T>C | CA383652257 | ADIPOR2 | c.592T>C (p.Ser198Pro) n.432T>C c.463+2554T>C (n.463+2554T>C) | |
| 12 | g.1780579T>G | CA383652256 | ADIPOR2 | c.592T>G (p.Ser198Ala) n.432T>G c.463+2554T>G (n.463+2554T>G) | |
| 12 | g.1780580del | CA2617036092 | ADIPOR2 | c.593del (p.Ser198TyrfsTer29) n.433del c.463+2555del (n.463+2555del) | gnomAD v4 |
| 12 | g.1780580C>A | CA383652259 | ADIPOR2 | c.593C>A (p.Ser198Ter) n.433C>A c.463+2555C>A (n.463+2555C>A) | |
| 12 | g.1780580C>G | CA383652260 | ADIPOR2 | c.593C>G (p.Ser198Ter) n.433C>G c.463+2555C>G (n.463+2555C>G) | |
| 12 | g.1780580C>T | CA383652261 | ADIPOR2 | c.593C>T (p.Ser198Leu) n.433C>T c.463+2555C>T (n.463+2555C>T) | COSMIC |
| 12 | g.1780581A= | CA2012138933 | ADIPOR2 | c.594A= (p.Ser198=) n.434A= c.463+2556A= (n.463+2556A=) | |
| 12 | g.1780581A>C | CA478097015 | ADIPOR2 | c.594A>C (p.Ser198=) n.434A>C c.463+2556A>C (n.463+2556A>C) | |
| 12 | g.1780581A>G | CA231905332 | ADIPOR2 | c.594A>G (p.Ser198=) n.434A>G c.463+2556A>G (n.463+2556A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.1780581A>T | CA478097016 | ADIPOR2 | c.594A>T (p.Ser198=) n.434A>T c.463+2556A>T (n.463+2556A>T) | |
| 12 | g.1780582T>A | CA383652262 | ADIPOR2 | c.595T>A (p.Trp199Arg) n.435T>A c.463+2557T>A (n.463+2557T>A) | |
| 12 | g.1780582T>C | CA383652263 | ADIPOR2 | c.595T>C (p.Trp199Arg) n.435T>C c.463+2557T>C (n.463+2557T>C) | |
| 12 | g.1780582T>G | CA383652264 | ADIPOR2 | c.595T>G (p.Trp199Gly) n.435T>G c.463+2557T>G (n.463+2557T>G) | |
| 12 | g.1780583G>A | CA383652265 | ADIPOR2 | c.596G>A (p.Trp199Ter) n.436G>A c.463+2558G>A (n.463+2558G>A) | |
| 12 | g.1780583G>C | CA383652267 | ADIPOR2 | c.596G>C (p.Trp199Ser) n.436G>C c.463+2558G>C (n.463+2558G>C) | |
| 12 | g.1780583G>T | CA383652266 | ADIPOR2 | c.596G>T (p.Trp199Leu) n.436G>T c.463+2558G>T (n.463+2558G>T) | |
| 12 | g.1780584del | CA2617036095 | ADIPOR2 | c.597del (p.Trp199CysfsTer28) n.437del c.463+2559del (n.463+2559del) | gnomAD v4 |
| 12 | g.1780584G>A | CA383652268 | ADIPOR2 | c.597G>A (p.Trp199Ter) n.437G>A c.463+2559G>A (n.463+2559G>A) | gnomAD v4 COSMIC |
| 12 | g.1780584G>C | CA383652269 | ADIPOR2 | c.597G>C (p.Trp199Cys) n.437G>C c.463+2559G>C (n.463+2559G>C) | gnomAD v4 |
| 12 | g.1780584G>T | CA383652270 | ADIPOR2 | c.597G>T (p.Trp199Cys) n.437G>T c.463+2559G>T (n.463+2559G>T) | |
| 12 | g.1780585C>A | CA383652271 | ADIPOR2 | c.598C>A (p.Leu200Ile) n.438C>A c.463+2560C>A (n.463+2560C>A) | |
| 12 | g.1780585C>G | CA383652272 | ADIPOR2 | c.598C>G (p.Leu200Val) n.438C>G c.463+2560C>G (n.463+2560C>G) | gnomAD v4 |
| 12 | g.1780585C>T | CA383652273 | ADIPOR2 | c.598C>T (p.Leu200Phe) n.438C>T c.463+2560C>T (n.463+2560C>T) | |
| 12 | g.1780586T>A | CA383652274 | ADIPOR2 | c.599T>A (p.Leu200His) n.439T>A c.463+2561T>A (n.463+2561T>A) | |
| 12 | g.1780586T>C | CA383652275 | ADIPOR2 | c.599T>C (p.Leu200Pro) n.439T>C c.463+2561T>C (n.463+2561T>C) | |
| 12 | g.1780586T>G | CA383652276 | ADIPOR2 | c.599T>G (p.Leu200Arg) n.439T>G c.463+2561T>G (n.463+2561T>G) | |
| 12 | g.1780587C>A | CA478097019 | ADIPOR2 | c.600C>A (p.Leu200=) n.440C>A c.463+2562C>A (n.463+2562C>A) | |
| 12 | g.1780587C>G | CA478097017 | ADIPOR2 | c.600C>G (p.Leu200=) n.440C>G c.463+2562C>G (n.463+2562C>G) | |
| 12 | g.1780587C>T | CA478097018 | ADIPOR2 | c.600C>T (p.Leu200=) n.440C>T c.463+2562C>T (n.463+2562C>T) | |
| 12 | g.1780588T>A | CA383652277 | ADIPOR2 | c.601T>A (p.Phe201Ile) n.441T>A c.463+2563T>A (n.463+2563T>A) | dbSNP |
| 12 | g.1780588T>C | CA383652278 | ADIPOR2 | c.601T>C (p.Phe201Leu) n.441T>C c.463+2563T>C (n.463+2563T>C) | |
| 12 | g.1780588T>G | CA383652279 | ADIPOR2 | c.601T>G (p.Phe201Val) n.441T>G c.463+2563T>G (n.463+2563T>G) | |
| 12 | g.1780588T= | CA2012138934 | ADIPOR2 | c.601T= (p.Phe201=) n.441T= c.463+2563T= (n.463+2563T=) | |
| 12 | g.1780589del | CA2617036100 | ADIPOR2 | c.602del (p.Phe201SerfsTer26) n.442del c.463+2564del (n.463+2564del) | gnomAD v4 |
| 12 | g.1780589T>A | CA383652281 | ADIPOR2 | c.602T>A (p.Phe201Tyr) n.442T>A c.463+2564T>A (n.463+2564T>A) | |
| 12 | g.1780589T>C | CA231905333 | ADIPOR2 | c.602T>C (p.Phe201Ser) n.442T>C c.463+2564T>C (n.463+2564T>C) | dbSNP |
| 12 | g.1780589T>G | CA383652280 | ADIPOR2 | c.602T>G (p.Phe201Cys) n.442T>G c.463+2564T>G (n.463+2564T>G) | |
| 12 | g.1780589T= | CA2012138935 | ADIPOR2 | c.602T= (p.Phe201=) n.442T= c.463+2564T= (n.463+2564T=) | |
| 12 | g.1780590C>A | CA383652283 | ADIPOR2 | c.603C>A (p.Phe201Leu) n.443C>A c.463+2565C>A (n.463+2565C>A) | |
| 12 | g.1780590C>G | CA383652282 | ADIPOR2 | c.603C>G (p.Phe201Leu) n.443C>G c.463+2565C>G (n.463+2565C>G) | |
| 12 | g.1780590C>T | CA478097020 | ADIPOR2 | c.603C>T (p.Phe201=) n.443C>T c.463+2565C>T (n.463+2565C>T) | gnomAD v4 |
| 12 | g.1780590_1780592delinsCCA | CA2012138936 | ADIPOR2 | c.603_605delinsCCA (p.Phe201=) n.443_445delinsCCA c.463+2565_463+2567delinsCCA (n.463+2565_463+2567delinsCCA) | |
| 12 | g.1780591C>A | CA383652285 | ADIPOR2 | c.604C>A (p.His202Asn) n.444C>A c.463+2566C>A (n.463+2566C>A) | |
| 12 | g.1780591C>G | CA383652284 | ADIPOR2 | c.604C>G (p.His202Asp) n.444C>G c.463+2566C>G (n.463+2566C>G) | |
| 12 | g.1780591C>T | CA383652286 | ADIPOR2 | c.604C>T (p.His202Tyr) n.444C>T c.463+2566C>T (n.463+2566C>T) | gnomAD v4 |