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.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 |
| 12 | g.1780954T>G | CA383652548 | ADIPOR2 | c.716T>G (p.Phe239Cys) n.556T>G c.464-2926T>G (n.464-2926T>G) | |
| 12 | g.1780955C>A | CA383652549 | ADIPOR2 | c.717C>A (p.Phe239Leu) n.557C>A c.464-2925C>A (n.464-2925C>A) | |
| 12 | g.1780955C= | CA2012139083 | ADIPOR2 | c.717C= (p.Phe239=) n.557C= c.464-2925C= (n.464-2925C=) | |
| 12 | g.1780955C>G | CA383652550 | ADIPOR2 | c.717C>G (p.Phe239Leu) n.557C>G c.464-2925C>G (n.464-2925C>G) | gnomAD v4 |
| 12 | g.1780955C>T | CA6385798 | ADIPOR2 | c.717C>T (p.Phe239=) n.557C>T c.464-2925C>T (n.464-2925C>T) | dbSNP ExAC gnomAD v2 |
| 12 | g.1780956T>A | CA383652551 | ADIPOR2 | c.718T>A (p.Tyr240Asn) n.558T>A c.464-2924T>A (n.464-2924T>A) | |
| 12 | g.1780956T>C | CA383652552 | ADIPOR2 | c.718T>C (p.Tyr240His) n.558T>C c.464-2924T>C (n.464-2924T>C) | |
| 12 | g.1780956T>G | CA383652553 | ADIPOR2 | c.718T>G (p.Tyr240Asp) n.558T>G c.464-2924T>G (n.464-2924T>G) | |
| 12 | g.1780957A>C | CA383652554 | ADIPOR2 | c.719A>C (p.Tyr240Ser) n.559A>C c.464-2923A>C (n.464-2923A>C) | |
| 12 | g.1780957A>G | CA383652555 | ADIPOR2 | c.719A>G (p.Tyr240Cys) n.559A>G c.464-2923A>G (n.464-2923A>G) | gnomAD v4 |
| 12 | g.1780957A>T | CA383652556 | ADIPOR2 | c.719A>T (p.Tyr240Phe) n.559A>T c.464-2923A>T (n.464-2923A>T) | |
| 12 | g.1780958C>A | CA383652557 | ADIPOR2 | c.720C>A (p.Tyr240Ter) n.560C>A c.464-2922C>A (n.464-2922C>A) | |
| 12 | g.1780958C= | CA2012139084 | ADIPOR2 | c.720C= (p.Tyr240=) n.560C= c.464-2922C= (n.464-2922C=) | |
| 12 | g.1780958C>G | CA383652558 | ADIPOR2 | c.720C>G (p.Tyr240Ter) n.560C>G c.464-2922C>G (n.464-2922C>G) | |
| 12 | g.1780958C>T | CA478097189 | ADIPOR2 | c.720C>T (p.Tyr240=) n.560C>T c.464-2922C>T (n.464-2922C>T) | dbSNP |
| 12 | g.1780959T>A | CA383652559 | ADIPOR2 | c.721T>A (p.Cys241Ser) n.561T>A c.464-2921T>A (n.464-2921T>A) | |
| 12 | g.1780959T>C | CA383652561 | ADIPOR2 | c.721T>C (p.Cys241Arg) n.561T>C c.464-2921T>C (n.464-2921T>C) | |
| 12 | g.1780959T>G | CA383652560 | ADIPOR2 | c.721T>G (p.Cys241Gly) n.561T>G c.464-2921T>G (n.464-2921T>G) | |
| 12 | g.1780960G>A | CA383652562 | ADIPOR2 | c.722G>A (p.Cys241Tyr) n.562G>A c.464-2920G>A (n.464-2920G>A) | |
| 12 | g.1780960G>C | CA383652563 | ADIPOR2 | c.722G>C (p.Cys241Ser) n.562G>C c.464-2920G>C (n.464-2920G>C) | |
| 12 | g.1780960G>T | CA383652564 | ADIPOR2 | c.722G>T (p.Cys241Phe) n.562G>T c.464-2920G>T (n.464-2920G>T) | |
| 12 | g.1780961T>A | CA383652565 | ADIPOR2 | c.723T>A (p.Cys241Ter) n.563T>A c.464-2919T>A (n.464-2919T>A) | |
| 12 | g.1780961T>C | CA478097194 | ADIPOR2 | c.723T>C (p.Cys241=) n.563T>C c.464-2919T>C (n.464-2919T>C) | |
| 12 | g.1780961T>G | CA383652566 | ADIPOR2 | c.723T>G (p.Cys241Trp) n.563T>G c.464-2919T>G (n.464-2919T>G) | |
| 12 | g.1780962A>C | CA383652567 | ADIPOR2 | c.724A>C (p.Asn242His) n.564A>C c.464-2918A>C (n.464-2918A>C) |