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.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 |
| 5 | g.128357344T= | CA1581282279 | FBN2 | c.2606A= (p.Asn869=) c.2507A= (p.Asn836=) c.2603A= (p.Asn868=) c.2453A= (p.Asn818=) | |
| 5 | g.128357345T>A | CA360767428 | FBN2 | c.2605A>T (p.Asn869Tyr) c.2506A>T (p.Asn836Tyr) c.2602A>T (p.Asn868Tyr) c.2452A>T (p.Asn818Tyr) | |
| 5 | g.128357345T>C | CA360767430 | FBN2 | c.2605A>G (p.Asn869Asp) c.2506A>G (p.Asn836Asp) c.2602A>G (p.Asn868Asp) c.2452A>G (p.Asn818Asp) | |
| 5 | g.128357345T>G | CA360767429 | FBN2 | c.2605A>C (p.Asn869His) c.2506A>C (p.Asn836His) c.2602A>C (p.Asn868His) c.2452A>C (p.Asn818His) | |
| 5 | g.128357346G>A | CA446312340 | FBN2 | c.2604C>T (p.Asn868=) c.2505C>T (p.Asn835=) c.2601C>T (p.Asn867=) c.2451C>T (p.Asn817=) | |
| 5 | g.128357346G>C | CA360767431 | FBN2 | c.2604C>G (p.Asn868Lys) c.2505C>G (p.Asn835Lys) c.2601C>G (p.Asn867Lys) c.2451C>G (p.Asn817Lys) | |
| 5 | g.128357346G>T | CA360767432 | FBN2 | c.2604C>A (p.Asn868Lys) c.2505C>A (p.Asn835Lys) c.2601C>A (p.Asn867Lys) c.2451C>A (p.Asn817Lys) | |
| 5 | g.128357347T>A | CA360767433 | FBN2 | c.2603A>T (p.Asn868Ile) c.2504A>T (p.Asn835Ile) c.2600A>T (p.Asn867Ile) c.2450A>T (p.Asn817Ile) | |
| 5 | g.128357347T>C | CA360767434 | FBN2 | c.2603A>G (p.Asn868Ser) c.2504A>G (p.Asn835Ser) c.2600A>G (p.Asn867Ser) c.2450A>G (p.Asn817Ser) | |
| 5 | g.128357347T>G | CA360767435 | FBN2 | c.2603A>C (p.Asn868Thr) c.2504A>C (p.Asn835Thr) c.2600A>C (p.Asn867Thr) c.2450A>C (p.Asn817Thr) | |
| 5 | g.128357348T>A | CA360767436 | FBN2 | c.2602A>T (p.Asn868Tyr) c.2503A>T (p.Asn835Tyr) c.2599A>T (p.Asn867Tyr) c.2449A>T (p.Asn817Tyr) | |
| 5 | g.128357348T>C | CA360767437 | FBN2 | c.2602A>G (p.Asn868Asp) c.2503A>G (p.Asn835Asp) c.2599A>G (p.Asn867Asp) c.2449A>G (p.Asn817Asp) | ClinVar |
| 5 | g.128357348T>G | CA360767438 | FBN2 | c.2602A>C (p.Asn868His) c.2503A>C (p.Asn835His) c.2599A>C (p.Asn867His) c.2449A>C (p.Asn817His) | |
| 5 | g.128357349T>A | CA360767439 | FBN2 | c.2601A>T (p.Arg867Ser) c.2502A>T (p.Arg834Ser) c.2598A>T (p.Arg866Ser) c.2448A>T (p.Arg816Ser) | |
| 5 | g.128357349T>C | CA446312341 | FBN2 | c.2601A>G (p.Arg867=) c.2502A>G (p.Arg834=) c.2598A>G (p.Arg866=) c.2448A>G (p.Arg816=) |