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.128357272T>A | CA2578396481 | FBN2 | c.2674+4A>T (n.2674+4A>T) c.2575+4A>T (n.2575+4A>T) c.2671+4A>T (n.2671+4A>T) c.2521+4A>T (n.2521+4A>T) | |
| 5 | g.128357274A>C | CA360767229 | FBN2 | c.2674+2T>G (n.2674+2T>G) c.2575+2T>G (n.2575+2T>G) c.2671+2T>G (n.2671+2T>G) c.2521+2T>G (n.2521+2T>G) | |
| 5 | g.128357274A>G | CA360767230 | FBN2 | c.2674+2T>C (n.2674+2T>C) c.2575+2T>C (n.2575+2T>C) c.2671+2T>C (n.2671+2T>C) c.2521+2T>C (n.2521+2T>C) | |
| 5 | g.128357274A>T | CA360767232 | FBN2 | c.2674+2T>A (n.2674+2T>A) c.2575+2T>A (n.2575+2T>A) c.2671+2T>A (n.2671+2T>A) c.2521+2T>A (n.2521+2T>A) | |
| 5 | g.128357275C>A | CA360767233 | FBN2 | c.2674+1G>T (n.2674+1G>T) c.2575+1G>T (n.2575+1G>T) c.2671+1G>T (n.2671+1G>T) c.2521+1G>T (n.2521+1G>T) | |
| 5 | g.128357275C>G | CA360767235 | FBN2 | c.2674+1G>C (n.2674+1G>C) c.2575+1G>C (n.2575+1G>C) c.2671+1G>C (n.2671+1G>C) c.2521+1G>C (n.2521+1G>C) | |
| 5 | g.128357275C>T | CA360767236 | FBN2 | c.2674+1G>A (n.2674+1G>A) c.2575+1G>A (n.2575+1G>A) c.2671+1G>A (n.2671+1G>A) c.2521+1G>A (n.2521+1G>A) | |
| 5 | g.128357276C>A | CA360767238 | FBN2 | c.2674G>T (p.Asp892Tyr) c.2575G>T (p.Asp859Tyr) c.2671G>T (p.Asp891Tyr) c.2521G>T (p.Asp841Tyr) | |
| 5 | g.128357276C>G | CA360767240 | FBN2 | c.2674G>C (p.Asp892His) c.2575G>C (p.Asp859His) c.2671G>C (p.Asp891His) c.2521G>C (p.Asp841His) | |
| 5 | g.128357276C>T | CA360767242 | FBN2 | c.2674G>A (p.Asp892Asn) c.2575G>A (p.Asp859Asn) c.2671G>A (p.Asp891Asn) c.2521G>A (p.Asp841Asn) | |
| 5 | g.128357277A>C | CA360767245 | FBN2 | c.2673T>G (p.Ile891Met) c.2574T>G (p.Ile858Met) c.2670T>G (p.Ile890Met) c.2520T>G (p.Ile840Met) | |
| 5 | g.128357277A>G | CA446312298 | FBN2 | c.2673T>C (p.Ile891=) c.2574T>C (p.Ile858=) c.2670T>C (p.Ile890=) c.2520T>C (p.Ile840=) | |
| 5 | g.128357277A>T | CA446312299 | FBN2 | c.2673T>A (p.Ile891=) c.2574T>A (p.Ile858=) c.2670T>A (p.Ile890=) c.2520T>A (p.Ile840=) | |
| 5 | g.128357278A>C | CA360767246 | FBN2 | c.2672T>G (p.Ile891Ser) c.2573T>G (p.Ile858Ser) c.2669T>G (p.Ile890Ser) c.2519T>G (p.Ile840Ser) | |
| 5 | g.128357278A>G | CA360767248 | FBN2 | c.2672T>C (p.Ile891Thr) c.2573T>C (p.Ile858Thr) c.2669T>C (p.Ile890Thr) c.2519T>C (p.Ile840Thr) | |
| 5 | g.128357278A>T | CA360767250 | FBN2 | c.2672T>A (p.Ile891Asn) c.2573T>A (p.Ile858Asn) c.2669T>A (p.Ile890Asn) c.2519T>A (p.Ile840Asn) | |
| 5 | g.128357279T>A | CA360767252 | FBN2 | c.2671A>T (p.Ile891Phe) c.2572A>T (p.Ile858Phe) c.2668A>T (p.Ile890Phe) c.2518A>T (p.Ile840Phe) | |
| 5 | g.128357279T>C | CA360767255 | FBN2 | c.2671A>G (p.Ile891Val) c.2572A>G (p.Ile858Val) c.2668A>G (p.Ile890Val) c.2518A>G (p.Ile840Val) | dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.128357279T>G | CA360767254 | FBN2 | c.2671A>C (p.Ile891Leu) c.2572A>C (p.Ile858Leu) c.2668A>C (p.Ile890Leu) c.2518A>C (p.Ile840Leu) | |
| 5 | g.128357279T= | CA1581282249 | FBN2 | c.2671A= (p.Ile891=) c.2572A= (p.Ile858=) c.2668A= (p.Ile890=) c.2518A= (p.Ile840=) | |
| 5 | g.128357280A= | CA1581282250 | FBN2 | c.2670T= (p.Cys890=) c.2571T= (p.Cys857=) c.2667T= (p.Cys889=) c.2517T= (p.Cys839=) | |
| 5 | g.128357280A>C | CA360767256 | FBN2 | c.2670T>G (p.Cys890Trp) c.2571T>G (p.Cys857Trp) c.2667T>G (p.Cys889Trp) c.2517T>G (p.Cys839Trp) | |
| 5 | g.128357280A>G | CA446312300 | FBN2 | c.2670T>C (p.Cys890=) c.2571T>C (p.Cys857=) c.2667T>C (p.Cys889=) c.2517T>C (p.Cys839=) | ClinVar dbSNP gnomAD v2 |
| 5 | g.128357280A>T | CA360767257 | FBN2 | c.2670T>A (p.Cys890Ter) c.2571T>A (p.Cys857Ter) c.2667T>A (p.Cys889Ter) c.2517T>A (p.Cys839Ter) | |
| 5 | g.128357281C>A | CA360767259 | FBN2 | c.2669G>T (p.Cys890Phe) c.2570G>T (p.Cys857Phe) c.2666G>T (p.Cys889Phe) c.2516G>T (p.Cys839Phe) | gnomAD v4 |
| 5 | g.128357281C>G | CA360767264 | FBN2 | c.2669G>C (p.Cys890Ser) c.2570G>C (p.Cys857Ser) c.2666G>C (p.Cys889Ser) c.2516G>C (p.Cys839Ser) | |
| 5 | g.128357281C>T | CA360767266 | FBN2 | c.2669G>A (p.Cys890Tyr) c.2570G>A (p.Cys857Tyr) c.2666G>A (p.Cys889Tyr) c.2516G>A (p.Cys839Tyr) | gnomAD v4 |
| 5 | g.128357282A= | CA1581282251 | FBN2 | c.2668T= (p.Cys890=) c.2569T= (p.Cys857=) c.2665T= (p.Cys889=) c.2515T= (p.Cys839=) | |
| 5 | g.128357282A>C | CA360767268 | FBN2 | c.2668T>G (p.Cys890Gly) c.2569T>G (p.Cys857Gly) c.2665T>G (p.Cys889Gly) c.2515T>G (p.Cys839Gly) | |
| 5 | g.128357282A>G | CA360767270 | FBN2 | c.2668T>C (p.Cys890Arg) c.2569T>C (p.Cys857Arg) c.2665T>C (p.Cys889Arg) c.2515T>C (p.Cys839Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128357282A>T | CA360767272 | FBN2 | c.2668T>A (p.Cys890Ser) c.2569T>A (p.Cys857Ser) c.2665T>A (p.Cys889Ser) c.2515T>A (p.Cys839Ser) | |
| 5 | g.128357283G>A | CA446312301 | FBN2 | c.2667C>T (p.Ile889=) c.2568C>T (p.Ile856=) c.2664C>T (p.Ile888=) c.2514C>T (p.Ile838=) | |
| 5 | g.128357283G>C | CA360767274 | FBN2 | c.2667C>G (p.Ile889Met) c.2568C>G (p.Ile856Met) c.2664C>G (p.Ile888Met) c.2514C>G (p.Ile838Met) | |
| 5 | g.128357283G>T | CA446312302 | FBN2 | c.2667C>A (p.Ile889=) c.2568C>A (p.Ile856=) c.2664C>A (p.Ile888=) c.2514C>A (p.Ile838=) | |
| 5 | g.128357284A>C | CA360767277 | FBN2 | c.2666T>G (p.Ile889Ser) c.2567T>G (p.Ile856Ser) c.2663T>G (p.Ile888Ser) c.2513T>G (p.Ile838Ser) | |
| 5 | g.128357284A>G | CA360767278 | FBN2 | c.2666T>C (p.Ile889Thr) c.2567T>C (p.Ile856Thr) c.2663T>C (p.Ile888Thr) c.2513T>C (p.Ile838Thr) | |
| 5 | g.128357284A>T | CA360767280 | FBN2 | c.2666T>A (p.Ile889Asn) c.2567T>A (p.Ile856Asn) c.2663T>A (p.Ile888Asn) c.2513T>A (p.Ile838Asn) | |
| 5 | g.128357285T>A | CA360767285 | FBN2 | c.2665A>T (p.Ile889Phe) c.2566A>T (p.Ile856Phe) c.2662A>T (p.Ile888Phe) c.2512A>T (p.Ile838Phe) | gnomAD v4 |
| 5 | g.128357285T>C | CA360767282 | FBN2 | c.2665A>G (p.Ile889Val) c.2566A>G (p.Ile856Val) c.2662A>G (p.Ile888Val) c.2512A>G (p.Ile838Val) | gnomAD v4 |
| 5 | g.128357285T>G | CA360767283 | FBN2 | c.2665A>C (p.Ile889Leu) c.2566A>C (p.Ile856Leu) c.2662A>C (p.Ile888Leu) c.2512A>C (p.Ile838Leu) | |
| 5 | g.128357286C>A | CA360767286 | FBN2 | c.2664G>T (p.Leu888Phe) c.2565G>T (p.Leu855Phe) c.2661G>T (p.Leu887Phe) c.2511G>T (p.Leu837Phe) | |
| 5 | g.128357286C>G | CA360767288 | FBN2 | c.2664G>C (p.Leu888Phe) c.2565G>C (p.Leu855Phe) c.2661G>C (p.Leu887Phe) c.2511G>C (p.Leu837Phe) | |
| 5 | g.128357286C>T | CA446312303 | FBN2 | c.2664G>A (p.Leu888=) c.2565G>A (p.Leu855=) c.2661G>A (p.Leu887=) c.2511G>A (p.Leu837=) | gnomAD v4 |
| 5 | g.128357287A>C | CA360767290 | FBN2 | c.2663T>G (p.Leu888Trp) c.2564T>G (p.Leu855Trp) c.2660T>G (p.Leu887Trp) c.2510T>G (p.Leu837Trp) | |
| 5 | g.128357287A>G | CA360767292 | FBN2 | c.2663T>C (p.Leu888Ser) c.2564T>C (p.Leu855Ser) c.2660T>C (p.Leu887Ser) c.2510T>C (p.Leu837Ser) | |
| 5 | g.128357287A>T | CA360767293 | FBN2 | c.2663T>A (p.Leu888Ter) c.2564T>A (p.Leu855Ter) c.2660T>A (p.Leu887Ter) c.2510T>A (p.Leu837Ter) | |
| 5 | g.128357288A= | CA1581282252 | FBN2 | c.2662T= (p.Leu888=) c.2563T= (p.Leu855=) c.2659T= (p.Leu887=) c.2509T= (p.Leu837=) | |
| 5 | g.128357288A>C | CA360767294 | FBN2 | c.2662T>G (p.Leu888Val) c.2563T>G (p.Leu855Val) c.2659T>G (p.Leu887Val) c.2509T>G (p.Leu837Val) | |
| 5 | g.128357288A>G | CA446312304 | FBN2 | c.2662T>C (p.Leu888=) c.2563T>C (p.Leu855=) c.2659T>C (p.Leu887=) c.2509T>C (p.Leu837=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128357288A>T | CA360767295 | FBN2 | c.2662T>A (p.Leu888Met) c.2563T>A (p.Leu855Met) c.2659T>A (p.Leu887Met) c.2509T>A (p.Leu837Met) |