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.1780939G>A | CA383652511 | ADIPOR2 | c.701G>A (p.Trp234Ter) n.541G>A c.463+2914G>A (n.463+2914G>A) | |
| 12 | g.1780939G>C | CA383652512 | ADIPOR2 | c.701G>C (p.Trp234Ser) n.541G>C c.463+2914G>C (n.463+2914G>C) | |
| 12 | g.1780939G>T | CA383652513 | ADIPOR2 | c.701G>T (p.Trp234Leu) n.541G>T c.463+2914G>T (n.463+2914G>T) | |
| 12 | g.1780940G>A | CA383652514 | ADIPOR2 | c.702G>A (p.Trp234Ter) n.542G>A c.463+2915G>A (n.463+2915G>A) | |
| 12 | g.1780940G>C | CA383652515 | ADIPOR2 | c.702G>C (p.Trp234Cys) n.542G>C c.463+2915G>C (n.463+2915G>C) | |
| 12 | g.1780940G>T | CA383652516 | ADIPOR2 | c.702G>T (p.Trp234Cys) n.542G>T c.463+2915G>T (n.463+2915G>T) | |
| 12 | g.1780941C>A | CA383652517 | ADIPOR2 | c.703C>A (p.Leu235Ile) n.543C>A c.463+2916C>A (n.463+2916C>A) | |
| 12 | g.1780941C>G | CA383652519 | ADIPOR2 | c.703C>G (p.Leu235Val) n.543C>G c.463+2916C>G (n.463+2916C>G) | |
| 12 | g.1780941C>T | CA383652518 | ADIPOR2 | c.703C>T (p.Leu235Phe) n.543C>T c.463+2916C>T (n.463+2916C>T) | |
| 12 | g.1780942T>A | CA383652520 | ADIPOR2 | c.704T>A (p.Leu235His) n.544T>A c.463+2917T>A (n.463+2917T>A) | |
| 12 | g.1780942T>C | CA6385797 | ADIPOR2 | c.704T>C (p.Leu235Pro) n.544T>C c.463+2917T>C (n.463+2917T>C) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.1780942T>G | CA6385796 | ADIPOR2 | c.704T>G (p.Leu235Arg) n.544T>G c.463+2917T>G (n.463+2917T>G) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.1780942T= | CA2012139079 | ADIPOR2 | c.704T= (p.Leu235=) n.544T= c.463+2917T= (n.463+2917T=) | |
| 12 | g.1780943T>A | CA478097170 | ADIPOR2 | c.705T>A (p.Leu235=) n.545T>A c.463+2918T>A (n.463+2918T>A) | |
| 12 | g.1780943T>C | CA478097173 | ADIPOR2 | c.705T>C (p.Leu235=) n.545T>C c.463+2918T>C (n.463+2918T>C) | |
| 12 | g.1780943T>G | CA478097171 | ADIPOR2 | c.705T>G (p.Leu235=) n.545T>G c.463+2918T>G (n.463+2918T>G) | |
| 12 | g.1780944T>A | CA383652521 | ADIPOR2 | c.706T>A (p.Tyr236Asn) n.546T>A c.463+2919T>A (n.463+2919T>A) | |
| 12 | g.1780944T>C | CA383652522 | ADIPOR2 | c.706T>C (p.Tyr236His) n.546T>C c.463+2919T>C (n.463+2919T>C) | |
| 12 | g.1780944T>G | CA383652523 | ADIPOR2 | c.706T>G (p.Tyr236Asp) n.546T>G c.463+2919T>G (n.463+2919T>G) | |
| 12 | g.1780945A>C | CA383652524 | ADIPOR2 | c.707A>C (p.Tyr236Ser) n.547A>C c.463+2920A>C (n.463+2920A>C) | |
| 12 | g.1780945A>G | CA383652525 | ADIPOR2 | c.707A>G (p.Tyr236Cys) n.547A>G c.463+2920A>G (n.463+2920A>G) | gnomAD v4 |
| 12 | g.1780945A>T | CA383652526 | ADIPOR2 | c.707A>T (p.Tyr236Phe) n.547A>T c.463+2920A>T (n.463+2920A>T) | COSMIC |
| 12 | g.1780946T>A | CA383652527 | ADIPOR2 | c.708T>A (p.Tyr236Ter) n.548T>A c.463+2921T>A (n.463+2921T>A) | |
| 12 | g.1780946T>C | CA478097174 | ADIPOR2 | c.708T>C (p.Tyr236=) n.548T>C c.463+2921T>C (n.463+2921T>C) | gnomAD v4 |
| 12 | g.1780946T>G | CA383652528 | ADIPOR2 | c.708T>G (p.Tyr236Ter) n.548T>G c.463+2921T>G (n.463+2921T>G) | |
| 12 | g.1780947T>A | CA383652529 | ADIPOR2 | c.709T>A (p.Tyr237Asn) n.549T>A c.463+2922T>A (n.463+2922T>A) | |
| 12 | g.1780947T>C | CA383652531 | ADIPOR2 | c.709T>C (p.Tyr237His) n.549T>C c.463+2922T>C (n.463+2922T>C) | |
| 12 | g.1780947T>G | CA383652530 | ADIPOR2 | c.709T>G (p.Tyr237Asp) n.549T>G c.463+2922T>G (n.463+2922T>G) | |
| 12 | g.1780948A>C | CA383652532 | ADIPOR2 | c.710A>C (p.Tyr237Ser) n.550A>C c.463+2923A>C (n.463+2923A>C) | |
| 12 | g.1780948A>G | CA383652533 | ADIPOR2 | c.710A>G (p.Tyr237Cys) n.550A>G c.463+2923A>G (n.463+2923A>G) | |
| 12 | g.1780948A>T | CA383652534 | ADIPOR2 | c.710A>T (p.Tyr237Phe) n.550A>T c.463+2923A>T (n.463+2923A>T) | |
| 12 | g.1780949T>A | CA383652535 | ADIPOR2 | c.711T>A (p.Tyr237Ter) n.551T>A c.463+2924T>A (n.463+2924T>A) | |
| 12 | g.1780949T>C | CA478097177 | ADIPOR2 | c.711T>C (p.Tyr237=) n.551T>C c.463+2924T>C (n.463+2924T>C) | |
| 12 | g.1780949T>G | CA383652536 | ADIPOR2 | c.711T>G (p.Tyr237Ter) n.551T>G c.463+2924T>G (n.463+2924T>G) | |
| 12 | g.1780950T>A | CA383652537 | ADIPOR2 | c.712T>A (p.Ser238Thr) n.552T>A c.463+2925T>A (n.463+2925T>A) | |
| 12 | g.1780950T>C | CA383652538 | ADIPOR2 | c.712T>C (p.Ser238Pro) n.552T>C c.463+2925T>C (n.463+2925T>C) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.1780950T>G | CA383652539 | ADIPOR2 | c.712T>G (p.Ser238Ala) n.552T>G c.463+2925T>G (n.463+2925T>G) | |
| 12 | g.1780950T= | CA2012139080 | ADIPOR2 | c.712T= (p.Ser238=) n.552T= c.463+2925T= (n.463+2925T=) | |
| 12 | g.1780951C>A | CA383652540 | ADIPOR2 | c.713C>A (p.Ser238Tyr) n.553C>A c.463+2926C>A (n.463+2926C>A) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.1780951C= | CA2012139081 | ADIPOR2 | c.713C= (p.Ser238=) n.553C= c.463+2926C= (n.463+2926C=) | |
| 12 | g.1780951C>G | CA383652541 | ADIPOR2 | c.713C>G (p.Ser238Cys) n.553C>G c.463+2926C>G (n.463+2926C>G) | |
| 12 | g.1780951C>T | CA383652542 | ADIPOR2 | c.713C>T (p.Ser238Phe) n.553C>T c.463+2926C>T (n.463+2926C>T) | COSMIC |
| 12 | g.1780952T>A | CA478097183 | ADIPOR2 | c.714T>A (p.Ser238=) n.554T>A c.464-2928T>A (n.464-2928T>A) | |
| 12 | g.1780952T>C | CA478097182 | ADIPOR2 | c.714T>C (p.Ser238=) n.554T>C c.464-2928T>C (n.464-2928T>C) | |
| 12 | g.1780952T>G | CA478097180 | ADIPOR2 | c.714T>G (p.Ser238=) n.554T>G c.464-2928T>G (n.464-2928T>G) | |
| 12 | g.1780953T>A | CA383652545 | ADIPOR2 | c.715T>A (p.Phe239Ile) n.555T>A c.464-2927T>A (n.464-2927T>A) | |
| 12 | g.1780953T>C | CA383652544 | ADIPOR2 | c.715T>C (p.Phe239Leu) n.555T>C c.464-2927T>C (n.464-2927T>C) | |
| 12 | g.1780953T>G | CA383652543 | ADIPOR2 | c.715T>G (p.Phe239Val) n.555T>G c.464-2927T>G (n.464-2927T>G) | |
| 12 | g.1780954T>A | CA383652546 | ADIPOR2 | c.716T>A (p.Phe239Tyr) n.556T>A c.464-2926T>A (n.464-2926T>A) | |
| 12 | g.1780954T>C | CA383652547 | ADIPOR2 | c.716T>C (p.Phe239Ser) n.556T>C c.464-2926T>C (n.464-2926T>C) | gnomAD v4 |