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.1780566C>A | CA478097005 | ADIPOR2 | c.579C>A (p.Leu193=) n.419C>A c.463+2541C>A (n.463+2541C>A) | |
| 12 | g.1780566C= | CA2012138928 | ADIPOR2 | c.579C= (p.Leu193=) n.419C= c.463+2541C= (n.463+2541C=) | |
| 12 | g.1780566C>G | CA478097006 | ADIPOR2 | c.579C>G (p.Leu193=) n.419C>G c.463+2541C>G (n.463+2541C>G) | |
| 12 | g.1780566C>T | CA6385761 | ADIPOR2 | c.579C>T (p.Leu193=) n.419C>T c.463+2541C>T (n.463+2541C>T) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.1780567T>A | CA383652229 | ADIPOR2 | c.580T>A (p.Cys194Ser) n.420T>A c.463+2542T>A (n.463+2542T>A) | |
| 12 | g.1780567T>C | CA383652230 | ADIPOR2 | c.580T>C (p.Cys194Arg) n.420T>C c.463+2542T>C (n.463+2542T>C) | gnomAD v4 |
| 12 | g.1780567T>G | CA383652231 | ADIPOR2 | c.580T>G (p.Cys194Gly) n.420T>G c.463+2542T>G (n.463+2542T>G) | |
| 12 | g.1780568G>A | CA383652232 | ADIPOR2 | c.581G>A (p.Cys194Tyr) n.421G>A c.463+2543G>A (n.463+2543G>A) | |
| 12 | g.1780568G>C | CA383652233 | ADIPOR2 | c.581G>C (p.Cys194Ser) n.421G>C c.463+2543G>C (n.463+2543G>C) | |
| 12 | g.1780568G>T | CA383652234 | ADIPOR2 | c.581G>T (p.Cys194Phe) n.421G>T c.463+2543G>T (n.463+2543G>T) | COSMIC |
| 12 | g.1780569C>A | CA383652236 | ADIPOR2 | c.582C>A (p.Cys194Ter) n.422C>A c.463+2544C>A (n.463+2544C>A) | |
| 12 | g.1780569C>G | CA383652235 | ADIPOR2 | c.582C>G (p.Cys194Trp) n.422C>G c.463+2544C>G (n.463+2544C>G) | |
| 12 | g.1780569C>T | CA478097007 | ADIPOR2 | c.582C>T (p.Cys194=) n.422C>T c.463+2544C>T (n.463+2544C>T) | |
| 12 | g.1780570C>A | CA383652237 | ADIPOR2 | c.583C>A (p.Leu195Ile) n.423C>A c.463+2545C>A (n.463+2545C>A) | |
| 12 | g.1780570C>G | CA383652238 | ADIPOR2 | c.583C>G (p.Leu195Val) n.423C>G c.463+2545C>G (n.463+2545C>G) | |
| 12 | g.1780570C>T | CA383652239 | ADIPOR2 | c.583C>T (p.Leu195Phe) n.423C>T c.463+2545C>T (n.463+2545C>T) | |
| 12 | g.1780571T>A | CA383652240 | ADIPOR2 | c.584T>A (p.Leu195His) n.424T>A c.463+2546T>A (n.463+2546T>A) | |
| 12 | g.1780571T>C | CA6385762 | ADIPOR2 | c.584T>C (p.Leu195Pro) n.424T>C c.463+2546T>C (n.463+2546T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.1780571T>G | CA383652241 | ADIPOR2 | c.584T>G (p.Leu195Arg) n.424T>G c.463+2546T>G (n.463+2546T>G) | |
| 12 | g.1780571T= | CA2012138929 | ADIPOR2 | c.584T= (p.Leu195=) n.424T= c.463+2546T= (n.463+2546T=) | |
| 12 | g.1780572T>A | CA478097010 | ADIPOR2 | c.585T>A (p.Leu195=) n.425T>A c.463+2547T>A (n.463+2547T>A) | |
| 12 | g.1780572T>C | CA478097009 | ADIPOR2 | c.585T>C (p.Leu195=) n.425T>C c.463+2547T>C (n.463+2547T>C) | |
| 12 | g.1780572T>G | CA478097008 | ADIPOR2 | c.585T>G (p.Leu195=) n.425T>G c.463+2547T>G (n.463+2547T>G) | |
| 12 | g.1780573T>A | CA383652242 | ADIPOR2 | c.586T>A (p.Ser196Thr) n.426T>A c.463+2548T>A (n.463+2548T>A) | |
| 12 | g.1780573T>C | CA383652243 | ADIPOR2 | c.586T>C (p.Ser196Pro) n.426T>C c.463+2548T>C (n.463+2548T>C) | |
| 12 | g.1780573T>G | CA383652244 | ADIPOR2 | c.586T>G (p.Ser196Ala) n.426T>G c.463+2548T>G (n.463+2548T>G) | |
| 12 | g.1780574del | CA2617036086 | ADIPOR2 | c.587del (p.Ser196PhefsTer?) n.427del c.463+2549del (n.463+2549del) | gnomAD v4 |
| 12 | g.1780574C>A | CA383652245 | ADIPOR2 | c.587C>A (p.Ser196Tyr) n.427C>A c.463+2549C>A (n.463+2549C>A) | |
| 12 | g.1780574C= | CA2012138930 | ADIPOR2 | c.587C= (p.Ser196=) n.427C= c.463+2549C= (n.463+2549C=) | |
| 12 | g.1780574C>G | CA383652246 | ADIPOR2 | c.587C>G (p.Ser196Cys) n.427C>G c.463+2549C>G (n.463+2549C>G) | dbSNP |
| 12 | g.1780574C>T | CA383652247 | ADIPOR2 | c.587C>T (p.Ser196Phe) n.427C>T c.463+2549C>T (n.463+2549C>T) | |
| 12 | g.1780575T>A | CA478097011 | ADIPOR2 | c.588T>A (p.Ser196=) n.428T>A c.463+2550T>A (n.463+2550T>A) | |
| 12 | g.1780575T>C | CA478097012 | ADIPOR2 | c.588T>C (p.Ser196=) n.428T>C c.463+2550T>C (n.463+2550T>C) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.1780575T>G | CA478097013 | ADIPOR2 | c.588T>G (p.Ser196=) n.428T>G c.463+2550T>G (n.463+2550T>G) | gnomAD v4 |
| 12 | g.1780575T= | CA2012138931 | ADIPOR2 | c.588T= (p.Ser196=) n.428T= c.463+2550T= (n.463+2550T=) | |
| 12 | g.1780576T>A | CA383652249 | ADIPOR2 | c.589T>A (p.Phe197Ile) n.429T>A c.463+2551T>A (n.463+2551T>A) | |
| 12 | g.1780576T>C | CA383652250 | ADIPOR2 | c.589T>C (p.Phe197Leu) n.429T>C c.463+2551T>C (n.463+2551T>C) | |
| 12 | g.1780576T>G | CA383652248 | ADIPOR2 | c.589T>G (p.Phe197Val) n.429T>G c.463+2551T>G (n.463+2551T>G) | |
| 12 | g.1780577T>A | CA383652251 | ADIPOR2 | c.590T>A (p.Phe197Tyr) n.430T>A c.463+2552T>A (n.463+2552T>A) | |
| 12 | g.1780577T>C | CA383652252 | ADIPOR2 | c.590T>C (p.Phe197Ser) n.430T>C c.463+2552T>C (n.463+2552T>C) | |
| 12 | g.1780577T>G | CA383652253 | ADIPOR2 | c.590T>G (p.Phe197Cys) n.430T>G c.463+2552T>G (n.463+2552T>G) | |
| 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) |