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.128338009C>A | CA360759147 | FBN2 | n.370G>T n.451G>T c.3586G>T (p.Glu1196Ter) c.136G>T (p.Glu46Ter) c.3487G>T (p.Glu1163Ter) c.3583G>T (p.Glu1195Ter) c.3433G>T (p.Glu1145Ter) | |
| 5 | g.128338009C>G | CA360759149 | FBN2 | n.370G>C n.451G>C c.3586G>C (p.Glu1196Gln) c.136G>C (p.Glu46Gln) c.3487G>C (p.Glu1163Gln) c.3583G>C (p.Glu1195Gln) c.3433G>C (p.Glu1145Gln) | |
| 5 | g.128338009C>T | CA360759150 | FBN2 | n.370G>A n.451G>A c.3586G>A (p.Glu1196Lys) c.136G>A (p.Glu46Lys) c.3487G>A (p.Glu1163Lys) c.3583G>A (p.Glu1195Lys) c.3433G>A (p.Glu1145Lys) | |
| 5 | g.128338010A>C | CA446310544 | FBN2 | n.369T>G n.450T>G c.3585T>G (p.Arg1195=) c.135T>G (p.Arg45=) c.3486T>G (p.Arg1162=) c.3582T>G (p.Arg1194=) c.3432T>G (p.Arg1144=) | |
| 5 | g.128338010A>G | CA446310545 | FBN2 | n.369T>C n.450T>C c.3585T>C (p.Arg1195=) c.135T>C (p.Arg45=) c.3486T>C (p.Arg1162=) c.3582T>C (p.Arg1194=) c.3432T>C (p.Arg1144=) | gnomAD v4 |
| 5 | g.128338010A>T | CA446310546 | FBN2 | n.369T>A n.450T>A c.3585T>A (p.Arg1195=) c.135T>A (p.Arg45=) c.3486T>A (p.Arg1162=) c.3582T>A (p.Arg1194=) c.3432T>A (p.Arg1144=) | |
| 5 | g.128338011C>A | CA360759158 | FBN2 | n.368G>T n.449G>T c.3584G>T (p.Arg1195Leu) c.134G>T (p.Arg45Leu) c.3485G>T (p.Arg1162Leu) c.3581G>T (p.Arg1194Leu) c.3431G>T (p.Arg1144Leu) | gnomAD v4 COSMIC COSMIC |
| 5 | g.128338011C= | CA1581270721 | FBN2 | n.368G= n.449G= c.3584G= (p.Arg1195=) c.134G= (p.Arg45=) c.3485G= (p.Arg1162=) c.3581G= (p.Arg1194=) c.3431G= (p.Arg1144=) | |
| 5 | g.128338011C>G | CA360759161 | FBN2 | n.368G>C n.449G>C c.3584G>C (p.Arg1195Pro) c.134G>C (p.Arg45Pro) c.3485G>C (p.Arg1162Pro) c.3581G>C (p.Arg1194Pro) c.3431G>C (p.Arg1144Pro) | ClinVar gnomAD v4 |
| 5 | g.128338011C>T | CA3395197 | FBN2 | n.368G>A n.449G>A c.3584G>A (p.Arg1195His) c.134G>A (p.Arg45His) c.3485G>A (p.Arg1162His) c.3581G>A (p.Arg1194His) c.3431G>A (p.Arg1144His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128338012G>A | CA325002 | FBN2 | n.367C>T n.448C>T c.3583C>T (p.Arg1195Cys) c.133C>T (p.Arg45Cys) c.3484C>T (p.Arg1162Cys) c.3580C>T (p.Arg1194Cys) c.3430C>T (p.Arg1144Cys) | ClinVar dbSNP ExAC gnomAD v3 gnomAD v4 |
| 5 | g.128338012G>C | CA360759162 | FBN2 | n.367C>G n.448C>G c.3583C>G (p.Arg1195Gly) c.133C>G (p.Arg45Gly) c.3484C>G (p.Arg1162Gly) c.3580C>G (p.Arg1194Gly) c.3430C>G (p.Arg1144Gly) | |
| 5 | g.128338012G= | CA1581270722 | FBN2 | n.367C= n.448C= c.3583C= (p.Arg1195=) c.133C= (p.Arg45=) c.3484C= (p.Arg1162=) c.3580C= (p.Arg1194=) c.3430C= (p.Arg1144=) | |
| 5 | g.128338012G>T | CA360759164 | FBN2 | n.367C>A n.448C>A c.3583C>A (p.Arg1195Ser) c.133C>A (p.Arg45Ser) c.3484C>A (p.Arg1162Ser) c.3580C>A (p.Arg1194Ser) c.3430C>A (p.Arg1144Ser) | |
| 5 | g.128338013G>A | CA3395198 | FBN2 | n.366C>T n.447C>T c.3582C>T (p.Ser1194=) c.132C>T (p.Ser44=) c.3483C>T (p.Ser1161=) c.3579C>T (p.Ser1193=) c.3429C>T (p.Ser1143=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128338013G>C | CA446310550 | FBN2 | n.366C>G n.447C>G c.3582C>G (p.Ser1194=) c.132C>G (p.Ser44=) c.3483C>G (p.Ser1161=) c.3579C>G (p.Ser1193=) c.3429C>G (p.Ser1143=) | |
| 5 | g.128338013G= | CA1581270723 | FBN2 | n.366C= n.447C= c.3582C= (p.Ser1194=) c.132C= (p.Ser44=) c.3483C= (p.Ser1161=) c.3579C= (p.Ser1193=) c.3429C= (p.Ser1143=) | |
| 5 | g.128338013G>T | CA446310551 | FBN2 | n.366C>A n.447C>A c.3582C>A (p.Ser1194=) c.132C>A (p.Ser44=) c.3483C>A (p.Ser1161=) c.3579C>A (p.Ser1193=) c.3429C>A (p.Ser1143=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128338014G>A | CA127014877 | FBN2 | n.365C>T n.446C>T c.3581C>T (p.Ser1194Phe) c.131C>T (p.Ser44Phe) c.3482C>T (p.Ser1161Phe) c.3578C>T (p.Ser1193Phe) c.3428C>T (p.Ser1143Phe) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128338014G>C | CA360759172 | FBN2 | n.365C>G n.446C>G c.3581C>G (p.Ser1194Cys) c.131C>G (p.Ser44Cys) c.3482C>G (p.Ser1161Cys) c.3578C>G (p.Ser1193Cys) c.3428C>G (p.Ser1143Cys) | |
| 5 | g.128338014G= | CA1581270724 | FBN2 | n.365C= n.446C= c.3581C= (p.Ser1194=) c.131C= (p.Ser44=) c.3482C= (p.Ser1161=) c.3578C= (p.Ser1193=) c.3428C= (p.Ser1143=) | |
| 5 | g.128338014G>T | CA360759174 | FBN2 | n.365C>A n.446C>A c.3581C>A (p.Ser1194Tyr) c.131C>A (p.Ser44Tyr) c.3482C>A (p.Ser1161Tyr) c.3578C>A (p.Ser1193Tyr) c.3428C>A (p.Ser1143Tyr) | COSMIC COSMIC |
| 5 | g.128338015A>C | CA360759175 | FBN2 | n.364T>G n.445T>G c.3580T>G (p.Ser1194Ala) c.130T>G (p.Ser44Ala) c.3481T>G (p.Ser1161Ala) c.3577T>G (p.Ser1193Ala) c.3427T>G (p.Ser1143Ala) | |
| 5 | g.128338015A>G | CA360759176 | FBN2 | n.364T>C n.445T>C c.3580T>C (p.Ser1194Pro) c.130T>C (p.Ser44Pro) c.3481T>C (p.Ser1161Pro) c.3577T>C (p.Ser1193Pro) c.3427T>C (p.Ser1143Pro) | |
| 5 | g.128338015A>T | CA360759177 | FBN2 | n.364T>A n.445T>A c.3580T>A (p.Ser1194Thr) c.130T>A (p.Ser44Thr) c.3481T>A (p.Ser1161Thr) c.3577T>A (p.Ser1193Thr) c.3427T>A (p.Ser1143Thr) | gnomAD v4 |
| 5 | g.128338016T>A | CA446310553 | FBN2 | n.363A>T n.444A>T c.3579A>T (p.Pro1193=) c.129A>T (p.Pro43=) c.3480A>T (p.Pro1160=) c.3576A>T (p.Pro1192=) c.3426A>T (p.Pro1142=) | |
| 5 | g.128338016T>C | CA446310554 | FBN2 | n.363A>G n.444A>G c.3579A>G (p.Pro1193=) c.129A>G (p.Pro43=) c.3480A>G (p.Pro1160=) c.3576A>G (p.Pro1192=) c.3426A>G (p.Pro1142=) | |
| 5 | g.128338016T>G | CA446310555 | FBN2 | n.363A>C n.444A>C c.3579A>C (p.Pro1193=) c.129A>C (p.Pro43=) c.3480A>C (p.Pro1160=) c.3576A>C (p.Pro1192=) c.3426A>C (p.Pro1142=) | |
| 5 | g.128338017G>A | CA360759179 | FBN2 | n.362C>T n.443C>T c.3578C>T (p.Pro1193Leu) c.128C>T (p.Pro43Leu) c.3479C>T (p.Pro1160Leu) c.3575C>T (p.Pro1192Leu) c.3425C>T (p.Pro1142Leu) | |
| 5 | g.128338017G>C | CA360759180 | FBN2 | n.362C>G n.443C>G c.3578C>G (p.Pro1193Arg) c.128C>G (p.Pro43Arg) c.3479C>G (p.Pro1160Arg) c.3575C>G (p.Pro1192Arg) c.3425C>G (p.Pro1142Arg) | |
| 5 | g.128338017G>T | CA360759183 | FBN2 | n.362C>A n.443C>A c.3578C>A (p.Pro1193Gln) c.128C>A (p.Pro43Gln) c.3479C>A (p.Pro1160Gln) c.3575C>A (p.Pro1192Gln) c.3425C>A (p.Pro1142Gln) | |
| 5 | g.128338018G>A | CA3395199 | FBN2 | n.361C>T n.442C>T c.3577C>T (p.Pro1193Ser) c.127C>T (p.Pro43Ser) c.3478C>T (p.Pro1160Ser) c.3574C>T (p.Pro1192Ser) c.3424C>T (p.Pro1142Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128338018G>C | CA360759190 | FBN2 | n.361C>G n.442C>G c.3577C>G (p.Pro1193Ala) c.127C>G (p.Pro43Ala) c.3478C>G (p.Pro1160Ala) c.3574C>G (p.Pro1192Ala) c.3424C>G (p.Pro1142Ala) | |
| 5 | g.128338018G= | CA1581270725 | FBN2 | n.361C= n.442C= c.3577C= (p.Pro1193=) c.127C= (p.Pro43=) c.3478C= (p.Pro1160=) c.3574C= (p.Pro1192=) c.3424C= (p.Pro1142=) | |
| 5 | g.128338018G>T | CA360759186 | FBN2 | n.361C>A n.442C>A c.3577C>A (p.Pro1193Thr) c.127C>A (p.Pro43Thr) c.3478C>A (p.Pro1160Thr) c.3574C>A (p.Pro1192Thr) c.3424C>A (p.Pro1142Thr) | |
| 5 | g.128338019T>A | CA446310561 | FBN2 | n.360A>T n.441A>T c.3576A>T (p.Ser1192=) c.126A>T (p.Ser42=) c.3477A>T (p.Ser1159=) c.3573A>T (p.Ser1191=) c.3423A>T (p.Ser1141=) | |
| 5 | g.128338019T>C | CA446310560 | FBN2 | n.360A>G n.441A>G c.3576A>G (p.Ser1192=) c.126A>G (p.Ser42=) c.3477A>G (p.Ser1159=) c.3573A>G (p.Ser1191=) c.3423A>G (p.Ser1141=) | gnomAD v4 |
| 5 | g.128338019T>G | CA446310559 | FBN2 | n.360A>C n.441A>C c.3576A>C (p.Ser1192=) c.126A>C (p.Ser42=) c.3477A>C (p.Ser1159=) c.3573A>C (p.Ser1191=) c.3423A>C (p.Ser1141=) | |
| 5 | g.128338020G>A | CA360759192 | FBN2 | n.359C>T n.440C>T c.3575C>T (p.Ser1192Leu) c.125C>T (p.Ser42Leu) c.3476C>T (p.Ser1159Leu) c.3572C>T (p.Ser1191Leu) c.3422C>T (p.Ser1141Leu) | dbSNP gnomAD v4 |
| 5 | g.128338020G>C | CA360759196 | FBN2 | n.359C>G n.440C>G c.3575C>G (p.Ser1192Ter) c.125C>G (p.Ser42Ter) c.3476C>G (p.Ser1159Ter) c.3572C>G (p.Ser1191Ter) c.3422C>G (p.Ser1141Ter) | |
| 5 | g.128338020G= | CA1581270726 | FBN2 | n.359C= n.440C= c.3575C= (p.Ser1192=) c.125C= (p.Ser42=) c.3476C= (p.Ser1159=) c.3572C= (p.Ser1191=) c.3422C= (p.Ser1141=) | |
| 5 | g.128338020G>T | CA360759197 | FBN2 | n.359C>A n.440C>A c.3575C>A (p.Ser1192Ter) c.125C>A (p.Ser42Ter) c.3476C>A (p.Ser1159Ter) c.3572C>A (p.Ser1191Ter) c.3422C>A (p.Ser1141Ter) | |
| 5 | g.128338021A>C | CA360759200 | FBN2 | n.358T>G n.439T>G c.3574T>G (p.Ser1192Ala) c.124T>G (p.Ser42Ala) c.3475T>G (p.Ser1159Ala) c.3571T>G (p.Ser1191Ala) c.3421T>G (p.Ser1141Ala) | |
| 5 | g.128338021A>G | CA360759201 | FBN2 | n.358T>C n.439T>C c.3574T>C (p.Ser1192Pro) c.124T>C (p.Ser42Pro) c.3475T>C (p.Ser1159Pro) c.3571T>C (p.Ser1191Pro) c.3421T>C (p.Ser1141Pro) | |
| 5 | g.128338021A>T | CA360759203 | FBN2 | n.358T>A n.439T>A c.3574T>A (p.Ser1192Thr) c.124T>A (p.Ser42Thr) c.3475T>A (p.Ser1159Thr) c.3571T>A (p.Ser1191Thr) c.3421T>A (p.Ser1141Thr) | |
| 5 | g.128338022C>A | CA446310565 | FBN2 | n.357G>T n.438G>T c.3573G>T (p.Leu1191=) c.123G>T (p.Leu41=) c.3474G>T (p.Leu1158=) c.3570G>T (p.Leu1190=) c.3420G>T (p.Leu1140=) | |
| 5 | g.128338022C>G | CA446310564 | FBN2 | n.357G>C n.438G>C c.3573G>C (p.Leu1191=) c.123G>C (p.Leu41=) c.3474G>C (p.Leu1158=) c.3570G>C (p.Leu1190=) c.3420G>C (p.Leu1140=) | |
| 5 | g.128338022C>T | CA446310563 | FBN2 | n.357G>A n.438G>A c.3573G>A (p.Leu1191=) c.123G>A (p.Leu41=) c.3474G>A (p.Leu1158=) c.3570G>A (p.Leu1190=) c.3420G>A (p.Leu1140=) | gnomAD v4 |
| 5 | g.128338023A>C | CA360759207 | FBN2 | n.356T>G n.437T>G c.3572T>G (p.Leu1191Arg) c.122T>G (p.Leu41Arg) c.3473T>G (p.Leu1158Arg) c.3569T>G (p.Leu1190Arg) c.3419T>G (p.Leu1140Arg) | |
| 5 | g.128338023A>G | CA360759215 | FBN2 | n.356T>C n.437T>C c.3572T>C (p.Leu1191Pro) c.122T>C (p.Leu41Pro) c.3473T>C (p.Leu1158Pro) c.3569T>C (p.Leu1190Pro) c.3419T>C (p.Leu1140Pro) |