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.128344388T>A | CA360761639 | FBN2 | c.3340A>T (p.Thr1114Ser) c.3241A>T (p.Thr1081Ser) c.3337A>T (p.Thr1113Ser) c.3187A>T (p.Thr1063Ser) | |
| 5 | g.128344388T>C | CA360761640 | FBN2 | c.3340A>G (p.Thr1114Ala) c.3241A>G (p.Thr1081Ala) c.3337A>G (p.Thr1113Ala) c.3187A>G (p.Thr1063Ala) | |
| 5 | g.128344388T>G | CA360761642 | FBN2 | c.3340A>C (p.Thr1114Pro) c.3241A>C (p.Thr1081Pro) c.3337A>C (p.Thr1113Pro) c.3187A>C (p.Thr1063Pro) | |
| 5 | g.128344389G>A | CA446311189 | FBN2 | c.3339C>T (p.Cys1113=) c.3240C>T (p.Cys1080=) c.3336C>T (p.Cys1112=) c.3186C>T (p.Cys1062=) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128344389G>C | CA360761645 | FBN2 | c.3339C>G (p.Cys1113Trp) c.3240C>G (p.Cys1080Trp) c.3336C>G (p.Cys1112Trp) c.3186C>G (p.Cys1062Trp) | |
| 5 | g.128344389G= | CA1581273728 | FBN2 | c.3339C= (p.Cys1113=) c.3240C= (p.Cys1080=) c.3336C= (p.Cys1112=) c.3186C= (p.Cys1062=) | |
| 5 | g.128344389G>T | CA360761646 | FBN2 | c.3339C>A (p.Cys1113Ter) c.3240C>A (p.Cys1080Ter) c.3336C>A (p.Cys1112Ter) c.3186C>A (p.Cys1062Ter) | |
| 5 | g.128344389dup | CA2675118134 | FBN2 | c.3339dup (p.Thr1114HisfsTer11) c.3240dup (p.Thr1081HisfsTer11) c.3336dup (p.Thr1113HisfsTer11) c.3186dup (p.Thr1063HisfsTer11) | gnomAD v4 |
| 5 | g.128344390C>A | CA360761648 | FBN2 | c.3338G>T (p.Cys1113Phe) c.3239G>T (p.Cys1080Phe) c.3335G>T (p.Cys1112Phe) c.3185G>T (p.Cys1062Phe) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128344390C= | CA1581273729 | FBN2 | c.3338G= (p.Cys1113=) c.3239G= (p.Cys1080=) c.3335G= (p.Cys1112=) c.3185G= (p.Cys1062=) | |
| 5 | g.128344390C>G | CA360761649 | FBN2 | c.3338G>C (p.Cys1113Ser) c.3239G>C (p.Cys1080Ser) c.3335G>C (p.Cys1112Ser) c.3185G>C (p.Cys1062Ser) | |
| 5 | g.128344390C>T | CA360761651 | FBN2 | c.3338G>A (p.Cys1113Tyr) c.3239G>A (p.Cys1080Tyr) c.3335G>A (p.Cys1112Tyr) c.3185G>A (p.Cys1062Tyr) | |
| 5 | g.128344391A= | CA1581273730 | FBN2 | c.3337T= (p.Cys1113=) c.3238T= (p.Cys1080=) c.3334T= (p.Cys1112=) c.3184T= (p.Cys1062=) | |
| 5 | g.128344391A>C | CA360761653 | FBN2 | c.3337T>G (p.Cys1113Gly) c.3238T>G (p.Cys1080Gly) c.3334T>G (p.Cys1112Gly) c.3184T>G (p.Cys1062Gly) | |
| 5 | g.128344391A>G | CA360761654 | FBN2 | c.3337T>C (p.Cys1113Arg) c.3238T>C (p.Cys1080Arg) c.3334T>C (p.Cys1112Arg) c.3184T>C (p.Cys1062Arg) | gnomAD v4 |
| 5 | g.128344391A>T | CA127018175 | FBN2 | c.3337T>A (p.Cys1113Ser) c.3238T>A (p.Cys1080Ser) c.3334T>A (p.Cys1112Ser) c.3184T>A (p.Cys1062Ser) | dbSNP gnomAD v4 |
| 5 | g.128344392G>A | CA446311190 | FBN2 | c.3336C>T (p.Asn1112=) c.3237C>T (p.Asn1079=) c.3333C>T (p.Asn1111=) c.3183C>T (p.Asn1061=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128344392G>C | CA360761659 | FBN2 | c.3336C>G (p.Asn1112Lys) c.3237C>G (p.Asn1079Lys) c.3333C>G (p.Asn1111Lys) c.3183C>G (p.Asn1061Lys) | |
| 5 | g.128344392G= | CA1581273731 | FBN2 | c.3336C= (p.Asn1112=) c.3237C= (p.Asn1079=) c.3333C= (p.Asn1111=) c.3183C= (p.Asn1061=) | |
| 5 | g.128344392G>T | CA360761658 | FBN2 | c.3336C>A (p.Asn1112Lys) c.3237C>A (p.Asn1079Lys) c.3333C>A (p.Asn1111Lys) c.3183C>A (p.Asn1061Lys) | |
| 5 | g.128344393T>A | CA360761661 | FBN2 | c.3335A>T (p.Asn1112Ile) c.3236A>T (p.Asn1079Ile) c.3332A>T (p.Asn1111Ile) c.3182A>T (p.Asn1061Ile) | |
| 5 | g.128344393T>C | CA360761663 | FBN2 | c.3335A>G (p.Asn1112Ser) c.3236A>G (p.Asn1079Ser) c.3332A>G (p.Asn1111Ser) c.3182A>G (p.Asn1061Ser) | ClinVar |
| 5 | g.128344393T>G | CA360761664 | FBN2 | c.3335A>C (p.Asn1112Thr) c.3236A>C (p.Asn1079Thr) c.3332A>C (p.Asn1111Thr) c.3182A>C (p.Asn1061Thr) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128344393T= | CA1581273732 | FBN2 | c.3335A= (p.Asn1112=) c.3236A= (p.Asn1079=) c.3332A= (p.Asn1111=) c.3182A= (p.Asn1061=) | |
| 5 | g.128344394T>A | CA360761666 | FBN2 | c.3334A>T (p.Asn1112Tyr) c.3235A>T (p.Asn1079Tyr) c.3331A>T (p.Asn1111Tyr) c.3181A>T (p.Asn1061Tyr) | |
| 5 | g.128344394T>C | CA360761667 | FBN2 | c.3334A>G (p.Asn1112Asp) c.3235A>G (p.Asn1079Asp) c.3331A>G (p.Asn1111Asp) c.3181A>G (p.Asn1061Asp) | |
| 5 | g.128344394T>G | CA360761668 | FBN2 | c.3334A>C (p.Asn1112His) c.3235A>C (p.Asn1079His) c.3331A>C (p.Asn1111His) c.3181A>C (p.Asn1061His) | |
| 5 | g.128344395T>A | CA360761669 | FBN2 | c.3333A>T (p.Arg1111Ser) c.3234A>T (p.Arg1078Ser) c.3330A>T (p.Arg1110Ser) c.3180A>T (p.Arg1060Ser) | |
| 5 | g.128344395T>C | CA446311191 | FBN2 | c.3333A>G (p.Arg1111=) c.3234A>G (p.Arg1078=) c.3330A>G (p.Arg1110=) c.3180A>G (p.Arg1060=) | |
| 5 | g.128344395T>G | CA360761670 | FBN2 | c.3333A>C (p.Arg1111Ser) c.3234A>C (p.Arg1078Ser) c.3330A>C (p.Arg1110Ser) c.3180A>C (p.Arg1060Ser) | |
| 5 | g.128344396C>A | CA360761673 | FBN2 | c.3332G>T (p.Arg1111Ile) c.3233G>T (p.Arg1078Ile) c.3329G>T (p.Arg1110Ile) c.3179G>T (p.Arg1060Ile) | gnomAD v4 |
| 5 | g.128344396C>G | CA360761675 | FBN2 | c.3332G>C (p.Arg1111Thr) c.3233G>C (p.Arg1078Thr) c.3329G>C (p.Arg1110Thr) c.3179G>C (p.Arg1060Thr) | |
| 5 | g.128344396C>T | CA360761677 | FBN2 | c.3332G>A (p.Arg1111Lys) c.3233G>A (p.Arg1078Lys) c.3329G>A (p.Arg1110Lys) c.3179G>A (p.Arg1060Lys) | |
| 5 | g.128344397T>A | CA360761681 | FBN2 | c.3331A>T (p.Arg1111Ter) c.3232A>T (p.Arg1078Ter) c.3328A>T (p.Arg1110Ter) c.3178A>T (p.Arg1060Ter) | |
| 5 | g.128344397T>C | CA360761683 | FBN2 | c.3331A>G (p.Arg1111Gly) c.3232A>G (p.Arg1078Gly) c.3328A>G (p.Arg1110Gly) c.3178A>G (p.Arg1060Gly) | ClinVar dbSNP |
| 5 | g.128344397T>G | CA446311192 | FBN2 | c.3331A>C (p.Arg1111=) c.3232A>C (p.Arg1078=) c.3328A>C (p.Arg1110=) c.3178A>C (p.Arg1060=) | |
| 5 | g.128344397T= | CA1581273733 | FBN2 | c.3331A= (p.Arg1111=) c.3232A= (p.Arg1078=) c.3328A= (p.Arg1110=) c.3178A= (p.Arg1060=) | |
| 5 | g.128344398T>A | CA360761686 | FBN2 | c.3330A>T (p.Glu1110Asp) c.3231A>T (p.Glu1077Asp) c.3327A>T (p.Glu1109Asp) c.3177A>T (p.Glu1059Asp) | COSMIC COSMIC |
| 5 | g.128344398T>C | CA446311193 | FBN2 | c.3330A>G (p.Glu1110=) c.3231A>G (p.Glu1077=) c.3327A>G (p.Glu1109=) c.3177A>G (p.Glu1059=) | dbSNP |
| 5 | g.128344398T>G | CA360761685 | FBN2 | c.3330A>C (p.Glu1110Asp) c.3231A>C (p.Glu1077Asp) c.3327A>C (p.Glu1109Asp) c.3177A>C (p.Glu1059Asp) | |
| 5 | g.128344398T= | CA1581273734 | FBN2 | c.3330A= (p.Glu1110=) c.3231A= (p.Glu1077=) c.3327A= (p.Glu1109=) c.3177A= (p.Glu1059=) | |
| 5 | g.128344399T>A | CA360761689 | FBN2 | c.3329A>T (p.Glu1110Val) c.3230A>T (p.Glu1077Val) c.3326A>T (p.Glu1109Val) c.3176A>T (p.Glu1059Val) | |
| 5 | g.128344399T>C | CA360761690 | FBN2 | c.3329A>G (p.Glu1110Gly) c.3230A>G (p.Glu1077Gly) c.3326A>G (p.Glu1109Gly) c.3176A>G (p.Glu1059Gly) | |
| 5 | g.128344399T>G | CA360761692 | FBN2 | c.3329A>C (p.Glu1110Ala) c.3230A>C (p.Glu1077Ala) c.3326A>C (p.Glu1109Ala) c.3176A>C (p.Glu1059Ala) | |
| 5 | g.128344400C>A | CA360761695 | FBN2 | c.3328G>T (p.Glu1110Ter) c.3229G>T (p.Glu1077Ter) c.3325G>T (p.Glu1109Ter) c.3175G>T (p.Glu1059Ter) | |
| 5 | g.128344400C>G | CA360761697 | FBN2 | c.3328G>C (p.Glu1110Gln) c.3229G>C (p.Glu1077Gln) c.3325G>C (p.Glu1109Gln) c.3175G>C (p.Glu1059Gln) | |
| 5 | g.128344400C>T | CA360761699 | FBN2 | c.3328G>A (p.Glu1110Lys) c.3229G>A (p.Glu1077Lys) c.3325G>A (p.Glu1109Lys) c.3175G>A (p.Glu1059Lys) | |
| 5 | g.128344401C>A | CA360761702 | FBN2 | c.3327G>T (p.Glu1109Asp) c.3228G>T (p.Glu1076Asp) c.3324G>T (p.Glu1108Asp) c.3174G>T (p.Glu1058Asp) | |
| 5 | g.128344401C>G | CA360761701 | FBN2 | c.3327G>C (p.Glu1109Asp) c.3228G>C (p.Glu1076Asp) c.3324G>C (p.Glu1108Asp) c.3174G>C (p.Glu1058Asp) | |
| 5 | g.128344401C>T | CA446311194 | FBN2 | c.3327G>A (p.Glu1109=) c.3228G>A (p.Glu1076=) c.3324G>A (p.Glu1108=) c.3174G>A (p.Glu1058=) | gnomAD v4 |