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 |
|---|---|---|---|---|---|
| 5 | g.128357330T>A | CA360767395 | FBN2 | c.2620A>T (p.Asn874Tyr) c.2521A>T (p.Asn841Tyr) c.2617A>T (p.Asn873Tyr) c.2467A>T (p.Asn823Tyr) | dbSNP |
| 5 | g.128357330T>C | CA360767396 | FBN2 | c.2620A>G (p.Asn874Asp) c.2521A>G (p.Asn841Asp) c.2617A>G (p.Asn873Asp) c.2467A>G (p.Asn823Asp) | dbSNP |
| 5 | g.128357330T>G | CA360767397 | FBN2 | c.2620A>C (p.Asn874His) c.2521A>C (p.Asn841His) c.2617A>C (p.Asn873His) c.2467A>C (p.Asn823His) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128357330T= | CA1581282274 | FBN2 | c.2620A= (p.Asn874=) c.2521A= (p.Asn841=) c.2617A= (p.Asn873=) c.2467A= (p.Asn823=) | |
| 5 | g.128357331G>A | CA446312327 | FBN2 | c.2619C>T (p.Phe873=) c.2520C>T (p.Phe840=) c.2616C>T (p.Phe872=) c.2466C>T (p.Phe822=) | |
| 5 | g.128357331G>C | CA360767398 | FBN2 | c.2619C>G (p.Phe873Leu) c.2520C>G (p.Phe840Leu) c.2616C>G (p.Phe872Leu) c.2466C>G (p.Phe822Leu) | |
| 5 | g.128357331G= | CA1581282275 | FBN2 | c.2619C= (p.Phe873=) c.2520C= (p.Phe840=) c.2616C= (p.Phe872=) c.2466C= (p.Phe822=) | |
| 5 | g.128357331G>T | CA360767399 | FBN2 | c.2619C>A (p.Phe873Leu) c.2520C>A (p.Phe840Leu) c.2616C>A (p.Phe872Leu) c.2466C>A (p.Phe822Leu) | dbSNP |
| 5 | g.128357332A>C | CA360767400 | FBN2 | c.2618T>G (p.Phe873Cys) c.2519T>G (p.Phe840Cys) c.2615T>G (p.Phe872Cys) c.2465T>G (p.Phe822Cys) | |
| 5 | g.128357332A>G | CA360767401 | FBN2 | c.2618T>C (p.Phe873Ser) c.2519T>C (p.Phe840Ser) c.2615T>C (p.Phe872Ser) c.2465T>C (p.Phe822Ser) | |
| 5 | g.128357332A>T | CA360767402 | FBN2 | c.2618T>A (p.Phe873Tyr) c.2519T>A (p.Phe840Tyr) c.2615T>A (p.Phe872Tyr) c.2465T>A (p.Phe822Tyr) | |
| 5 | g.128357333A= | CA1581282276 | FBN2 | c.2617T= (p.Phe873=) c.2518T= (p.Phe840=) c.2614T= (p.Phe872=) c.2464T= (p.Phe822=) | |
| 5 | g.128357333A>C | CA360767403 | FBN2 | c.2617T>G (p.Phe873Val) c.2518T>G (p.Phe840Val) c.2614T>G (p.Phe872Val) c.2464T>G (p.Phe822Val) | |
| 5 | g.128357333A>G | CA360767404 | FBN2 | c.2617T>C (p.Phe873Leu) c.2518T>C (p.Phe840Leu) c.2614T>C (p.Phe872Leu) c.2464T>C (p.Phe822Leu) | |
| 5 | g.128357333A>T | CA360767405 | FBN2 | c.2617T>A (p.Phe873Ile) c.2518T>A (p.Phe840Ile) c.2614T>A (p.Phe872Ile) c.2464T>A (p.Phe822Ile) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128357334A>C | CA446312328 | FBN2 | c.2616T>G (p.Ser872=) c.2517T>G (p.Ser839=) c.2613T>G (p.Ser871=) c.2463T>G (p.Ser821=) | |
| 5 | g.128357334A>G | CA446312329 | FBN2 | c.2616T>C (p.Ser872=) c.2517T>C (p.Ser839=) c.2613T>C (p.Ser871=) c.2463T>C (p.Ser821=) | |
| 5 | g.128357334A>T | CA446312330 | FBN2 | c.2616T>A (p.Ser872=) c.2517T>A (p.Ser839=) c.2613T>A (p.Ser871=) c.2463T>A (p.Ser821=) | |
| 5 | g.128357335G>A | CA360767408 | FBN2 | c.2615C>T (p.Ser872Phe) c.2516C>T (p.Ser839Phe) c.2612C>T (p.Ser871Phe) c.2462C>T (p.Ser821Phe) | |
| 5 | g.128357335G>C | CA360767407 | FBN2 | c.2615C>G (p.Ser872Cys) c.2516C>G (p.Ser839Cys) c.2612C>G (p.Ser871Cys) c.2462C>G (p.Ser821Cys) | |
| 5 | g.128357335G>T | CA360767406 | FBN2 | c.2615C>A (p.Ser872Tyr) c.2516C>A (p.Ser839Tyr) c.2612C>A (p.Ser871Tyr) c.2462C>A (p.Ser821Tyr) | ClinVar |
| 5 | g.128357336A>C | CA360767409 | FBN2 | c.2614T>G (p.Ser872Ala) c.2515T>G (p.Ser839Ala) c.2611T>G (p.Ser871Ala) c.2461T>G (p.Ser821Ala) | |
| 5 | g.128357336A>G | CA360767410 | FBN2 | c.2614T>C (p.Ser872Pro) c.2515T>C (p.Ser839Pro) c.2611T>C (p.Ser871Pro) c.2461T>C (p.Ser821Pro) | |
| 5 | g.128357336A>T | CA360767411 | FBN2 | c.2614T>A (p.Ser872Thr) c.2515T>A (p.Ser839Thr) c.2611T>A (p.Ser871Thr) c.2461T>A (p.Ser821Thr) | gnomAD v4 |
| 5 | g.128357337T>A | CA446312334 | FBN2 | c.2613A>T (p.Gly871=) c.2514A>T (p.Gly838=) c.2610A>T (p.Gly870=) c.2460A>T (p.Gly820=) | |
| 5 | g.128357337T>C | CA446312332 | FBN2 | c.2613A>G (p.Gly871=) c.2514A>G (p.Gly838=) c.2610A>G (p.Gly870=) c.2460A>G (p.Gly820=) | |
| 5 | g.128357337T>G | CA446312333 | FBN2 | c.2613A>C (p.Gly871=) c.2514A>C (p.Gly838=) c.2610A>C (p.Gly870=) c.2460A>C (p.Gly820=) | |
| 5 | g.128357338C>A | CA360767412 | FBN2 | c.2612G>T (p.Gly871Val) c.2513G>T (p.Gly838Val) c.2609G>T (p.Gly870Val) c.2459G>T (p.Gly820Val) | |
| 5 | g.128357338C>G | CA360767413 | FBN2 | c.2612G>C (p.Gly871Ala) c.2513G>C (p.Gly838Ala) c.2609G>C (p.Gly870Ala) c.2459G>C (p.Gly820Ala) | |
| 5 | g.128357338C>T | CA360767414 | FBN2 | c.2612G>A (p.Gly871Glu) c.2513G>A (p.Gly838Glu) c.2609G>A (p.Gly870Glu) c.2459G>A (p.Gly820Glu) | |
| 5 | g.128357339C>A | CA360767415 | FBN2 | c.2611G>T (p.Gly871Ter) c.2512G>T (p.Gly838Ter) c.2608G>T (p.Gly870Ter) c.2458G>T (p.Gly820Ter) | |
| 5 | g.128357339C= | CA1581282277 | FBN2 | c.2611G= (p.Gly871=) c.2512G= (p.Gly838=) c.2608G= (p.Gly870=) c.2458G= (p.Gly820=) | |
| 5 | g.128357339C>G | CA360767417 | FBN2 | c.2611G>C (p.Gly871Arg) c.2512G>C (p.Gly838Arg) c.2608G>C (p.Gly870Arg) c.2458G>C (p.Gly820Arg) | ClinVar dbSNP |
| 5 | g.128357339C>T | CA360767416 | FBN2 | c.2611G>A (p.Gly871Arg) c.2512G>A (p.Gly838Arg) c.2608G>A (p.Gly870Arg) c.2458G>A (p.Gly820Arg) | |
| 5 | g.128357340A>C | CA446312335 | FBN2 | c.2610T>G (p.Leu870=) c.2511T>G (p.Leu837=) c.2607T>G (p.Leu869=) c.2457T>G (p.Leu819=) | |
| 5 | g.128357340A>G | CA446312336 | FBN2 | c.2610T>C (p.Leu870=) c.2511T>C (p.Leu837=) c.2607T>C (p.Leu869=) c.2457T>C (p.Leu819=) | |
| 5 | g.128357340A>T | CA446312337 | FBN2 | c.2610T>A (p.Leu870=) c.2511T>A (p.Leu837=) c.2607T>A (p.Leu869=) c.2457T>A (p.Leu819=) | |
| 5 | g.128357341A>C | CA360767418 | FBN2 | c.2609T>G (p.Leu870Arg) c.2510T>G (p.Leu837Arg) c.2606T>G (p.Leu869Arg) c.2456T>G (p.Leu819Arg) | |
| 5 | g.128357341A>G | CA360767419 | FBN2 | c.2609T>C (p.Leu870Pro) c.2510T>C (p.Leu837Pro) c.2606T>C (p.Leu869Pro) c.2456T>C (p.Leu819Pro) | |
| 5 | g.128357341A>T | CA360767420 | FBN2 | c.2609T>A (p.Leu870His) c.2510T>A (p.Leu837His) c.2606T>A (p.Leu869His) c.2456T>A (p.Leu819His) | |
| 5 | g.128357342G>A | CA360767421 | FBN2 | c.2608C>T (p.Leu870Phe) c.2509C>T (p.Leu837Phe) c.2605C>T (p.Leu869Phe) c.2455C>T (p.Leu819Phe) | |
| 5 | g.128357342G>C | CA360767422 | FBN2 | c.2608C>G (p.Leu870Val) c.2509C>G (p.Leu837Val) c.2605C>G (p.Leu869Val) c.2455C>G (p.Leu819Val) | |
| 5 | g.128357342G>T | CA360767423 | FBN2 | c.2608C>A (p.Leu870Ile) c.2509C>A (p.Leu837Ile) c.2605C>A (p.Leu869Ile) c.2455C>A (p.Leu819Ile) | |
| 5 | g.128357343G>A | CA446312339 | FBN2 | c.2607C>T (p.Asn869=) c.2508C>T (p.Asn836=) c.2604C>T (p.Asn868=) c.2454C>T (p.Asn818=) | ClinVar dbSNP |
| 5 | g.128357343G>C | CA360767424 | FBN2 | c.2607C>G (p.Asn869Lys) c.2508C>G (p.Asn836Lys) c.2604C>G (p.Asn868Lys) c.2454C>G (p.Asn818Lys) | |
| 5 | g.128357343G= | CA1581282278 | FBN2 | c.2607C= (p.Asn869=) c.2508C= (p.Asn836=) c.2604C= (p.Asn868=) c.2454C= (p.Asn818=) | |
| 5 | g.128357343G>T | CA360767425 | FBN2 | c.2607C>A (p.Asn869Lys) c.2508C>A (p.Asn836Lys) c.2604C>A (p.Asn868Lys) c.2454C>A (p.Asn818Lys) | |
| 5 | g.128357344T>A | CA360767426 | FBN2 | c.2606A>T (p.Asn869Ile) c.2507A>T (p.Asn836Ile) c.2603A>T (p.Asn868Ile) c.2453A>T (p.Asn818Ile) | |
| 5 | g.128357344T>C | CA3395493 | FBN2 | c.2606A>G (p.Asn869Ser) c.2507A>G (p.Asn836Ser) c.2603A>G (p.Asn868Ser) c.2453A>G (p.Asn818Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128357344T>G | CA360767427 | FBN2 | c.2606A>C (p.Asn869Thr) c.2507A>C (p.Asn836Thr) c.2603A>C (p.Asn868Thr) c.2453A>C (p.Asn818Thr) | ClinVar gnomAD v4 |