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.128338109A= | CA1581270758 | FBN2 | n.270T= n.351T= c.3486T= (p.Cys1162=) c.36T= (p.Cys12=) c.3387T= (p.Cys1129=) c.3483T= (p.Cys1161=) c.3333T= (p.Cys1111=) | |
| 5 | g.128338109A>C | CA360759557 | FBN2 | n.270T>G n.351T>G c.3486T>G (p.Cys1162Trp) c.36T>G (p.Cys12Trp) c.3387T>G (p.Cys1129Trp) c.3483T>G (p.Cys1161Trp) c.3333T>G (p.Cys1111Trp) | ClinVar dbSNP |
| 5 | g.128338109A>G | CA446310733 | FBN2 | n.270T>C n.351T>C c.3486T>C (p.Cys1162=) c.36T>C (p.Cys12=) c.3387T>C (p.Cys1129=) c.3483T>C (p.Cys1161=) c.3333T>C (p.Cys1111=) | |
| 5 | g.128338109A>T | CA360759558 | FBN2 | n.270T>A n.351T>A c.3486T>A (p.Cys1162Ter) c.36T>A (p.Cys12Ter) c.3387T>A (p.Cys1129Ter) c.3483T>A (p.Cys1161Ter) c.3333T>A (p.Cys1111Ter) | |
| 5 | g.128338110C>A | CA360759562 | FBN2 | n.269G>T n.350G>T c.3485G>T (p.Cys1162Phe) c.35G>T (p.Cys12Phe) c.3386G>T (p.Cys1129Phe) c.3482G>T (p.Cys1161Phe) c.3332G>T (p.Cys1111Phe) | |
| 5 | g.128338110C>G | CA360759563 | FBN2 | n.269G>C n.350G>C c.3485G>C (p.Cys1162Ser) c.35G>C (p.Cys12Ser) c.3386G>C (p.Cys1129Ser) c.3482G>C (p.Cys1161Ser) c.3332G>C (p.Cys1111Ser) | |
| 5 | g.128338110C>T | CA360759561 | FBN2 | n.269G>A n.350G>A c.3485G>A (p.Cys1162Tyr) c.35G>A (p.Cys12Tyr) c.3386G>A (p.Cys1129Tyr) c.3482G>A (p.Cys1161Tyr) c.3332G>A (p.Cys1111Tyr) | |
| 5 | g.128338111A= | CA1581270759 | FBN2 | n.268T= n.349T= c.3484T= (p.Cys1162=) c.34T= (p.Cys12=) c.3385T= (p.Cys1129=) c.3481T= (p.Cys1161=) c.3331T= (p.Cys1111=) | |
| 5 | g.128338111A>C | CA360759564 | FBN2 | n.268T>G n.349T>G c.3484T>G (p.Cys1162Gly) c.34T>G (p.Cys12Gly) c.3385T>G (p.Cys1129Gly) c.3481T>G (p.Cys1161Gly) c.3331T>G (p.Cys1111Gly) | |
| 5 | g.128338111A>G | CA360759566 | FBN2 | n.268T>C n.349T>C c.3484T>C (p.Cys1162Arg) c.34T>C (p.Cys12Arg) c.3385T>C (p.Cys1129Arg) c.3481T>C (p.Cys1161Arg) c.3331T>C (p.Cys1111Arg) | ClinVar dbSNP |
| 5 | g.128338111A>T | CA360759568 | FBN2 | n.268T>A n.349T>A c.3484T>A (p.Cys1162Ser) c.34T>A (p.Cys12Ser) c.3385T>A (p.Cys1129Ser) c.3481T>A (p.Cys1161Ser) c.3331T>A (p.Cys1111Ser) | |
| 5 | g.128338112T>A | CA360759570 | FBN2 | n.267A>T n.348A>T c.3483A>T (p.Glu1161Asp) c.33A>T (p.Glu11Asp) c.3384A>T (p.Glu1128Asp) c.3480A>T (p.Glu1160Asp) c.3330A>T (p.Glu1110Asp) | |
| 5 | g.128338112T>C | CA3395211 | FBN2 | n.267A>G n.348A>G c.3483A>G (p.Glu1161=) c.33A>G (p.Glu11=) c.3384A>G (p.Glu1128=) c.3480A>G (p.Glu1160=) c.3330A>G (p.Glu1110=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128338112T>G | CA360759574 | FBN2 | n.267A>C n.348A>C c.3483A>C (p.Glu1161Asp) c.33A>C (p.Glu11Asp) c.3384A>C (p.Glu1128Asp) c.3480A>C (p.Glu1160Asp) c.3330A>C (p.Glu1110Asp) | |
| 5 | g.128338112T= | CA1581270760 | FBN2 | n.267A= n.348A= c.3483A= (p.Glu1161=) c.33A= (p.Glu11=) c.3384A= (p.Glu1128=) c.3480A= (p.Glu1160=) c.3330A= (p.Glu1110=) | |
| 5 | g.128338113dup | CA2675117527 | FBN2 | n.267dup n.348dup c.3483dup (p.Cys1162MetfsTer2) c.33dup (p.Cys12MetfsTer2) c.3384dup (p.Cys1129MetfsTer2) c.3480dup (p.Cys1161MetfsTer2) c.3330dup (p.Cys1111MetfsTer2) | gnomAD v4 |
| 5 | g.128338113T>A | CA360759576 | FBN2 | n.266A>T n.347A>T c.3482A>T (p.Glu1161Val) c.32A>T (p.Glu11Val) c.3383A>T (p.Glu1128Val) c.3479A>T (p.Glu1160Val) c.3329A>T (p.Glu1110Val) | |
| 5 | g.128338113T>C | CA360759578 | FBN2 | n.266A>G n.347A>G c.3482A>G (p.Glu1161Gly) c.32A>G (p.Glu11Gly) c.3383A>G (p.Glu1128Gly) c.3479A>G (p.Glu1160Gly) c.3329A>G (p.Glu1110Gly) | ClinVar |
| 5 | g.128338113T>G | CA360759579 | FBN2 | n.266A>C n.347A>C c.3482A>C (p.Glu1161Ala) c.32A>C (p.Glu11Ala) c.3383A>C (p.Glu1128Ala) c.3479A>C (p.Glu1160Ala) c.3329A>C (p.Glu1110Ala) | |
| 5 | g.128338114C>A | CA360759582 | FBN2 | n.265G>T n.346G>T c.3481G>T (p.Glu1161Ter) c.31G>T (p.Glu11Ter) c.3382G>T (p.Glu1128Ter) c.3478G>T (p.Glu1160Ter) c.3328G>T (p.Glu1110Ter) | gnomAD v4 |
| 5 | g.128338114C= | CA1581270761 | FBN2 | n.265G= n.346G= c.3481G= (p.Glu1161=) c.31G= (p.Glu11=) c.3382G= (p.Glu1128=) c.3478G= (p.Glu1160=) c.3328G= (p.Glu1110=) | |
| 5 | g.128338114C>G | CA360759584 | FBN2 | n.265G>C n.346G>C c.3481G>C (p.Glu1161Gln) c.31G>C (p.Glu11Gln) c.3382G>C (p.Glu1128Gln) c.3478G>C (p.Glu1160Gln) c.3328G>C (p.Glu1110Gln) | |
| 5 | g.128338114C>T | CA360759585 | FBN2 | n.265G>A n.346G>A c.3481G>A (p.Glu1161Lys) c.31G>A (p.Glu11Lys) c.3382G>A (p.Glu1128Lys) c.3478G>A (p.Glu1160Lys) c.3328G>A (p.Glu1110Lys) | ClinVar dbSNP gnomAD v4 COSMIC COSMIC |
| 5 | g.128338115G>A | CA3395212 | FBN2 | n.264C>T n.345C>T c.3480C>T (p.Asp1160=) c.30C>T (p.Asp10=) c.3381C>T (p.Asp1127=) c.3477C>T (p.Asp1159=) c.3327C>T (p.Asp1109=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128338115G>C | CA360759588 | FBN2 | n.264C>G n.345C>G c.3480C>G (p.Asp1160Glu) c.30C>G (p.Asp10Glu) c.3381C>G (p.Asp1127Glu) c.3477C>G (p.Asp1159Glu) c.3327C>G (p.Asp1109Glu) | |
| 5 | g.128338115G= | CA1581270762 | FBN2 | n.264C= n.345C= c.3480C= (p.Asp1160=) c.30C= (p.Asp10=) c.3381C= (p.Asp1127=) c.3477C= (p.Asp1159=) c.3327C= (p.Asp1109=) | |
| 5 | g.128338115G>T | CA127014943 | FBN2 | n.264C>A n.345C>A c.3480C>A (p.Asp1160Glu) c.30C>A (p.Asp10Glu) c.3381C>A (p.Asp1127Glu) c.3477C>A (p.Asp1159Glu) c.3327C>A (p.Asp1109Glu) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128338116T>A | CA360759590 | FBN2 | n.263A>T n.344A>T c.3479A>T (p.Asp1160Val) c.29A>T (p.Asp10Val) c.3380A>T (p.Asp1127Val) c.3476A>T (p.Asp1159Val) c.3326A>T (p.Asp1109Val) | |
| 5 | g.128338116T>C | CA360759592 | FBN2 | n.263A>G n.344A>G c.3479A>G (p.Asp1160Gly) c.29A>G (p.Asp10Gly) c.3380A>G (p.Asp1127Gly) c.3476A>G (p.Asp1159Gly) c.3326A>G (p.Asp1109Gly) | |
| 5 | g.128338116T>G | CA360759594 | FBN2 | n.263A>C n.344A>C c.3479A>C (p.Asp1160Ala) c.29A>C (p.Asp10Ala) c.3380A>C (p.Asp1127Ala) c.3476A>C (p.Asp1159Ala) c.3326A>C (p.Asp1109Ala) | |
| 5 | g.128338117C>A | CA360759595 | FBN2 | n.262G>T n.343G>T c.3478G>T (p.Asp1160Tyr) c.28G>T (p.Asp10Tyr) c.3379G>T (p.Asp1127Tyr) c.3475G>T (p.Asp1159Tyr) c.3325G>T (p.Asp1109Tyr) | |
| 5 | g.128338117C>G | CA360759597 | FBN2 | n.262G>C n.343G>C c.3478G>C (p.Asp1160His) c.28G>C (p.Asp10His) c.3379G>C (p.Asp1127His) c.3475G>C (p.Asp1159His) c.3325G>C (p.Asp1109His) | |
| 5 | g.128338117C>T | CA360759598 | FBN2 | n.262G>A n.343G>A c.3478G>A (p.Asp1160Asn) c.28G>A (p.Asp10Asn) c.3379G>A (p.Asp1127Asn) c.3475G>A (p.Asp1159Asn) c.3325G>A (p.Asp1109Asn) | |
| 5 | g.128338118A= | CA1581270763 | FBN2 | n.261T= n.342T= c.3477T= (p.Ile1159=) c.27T= (p.Ile9=) c.3378T= (p.Ile1126=) c.3474T= (p.Ile1158=) c.3324T= (p.Ile1108=) | |
| 5 | g.128338118A>C | CA3395213 | FBN2 | n.261T>G n.342T>G c.3477T>G (p.Ile1159Met) c.27T>G (p.Ile9Met) c.3378T>G (p.Ile1126Met) c.3474T>G (p.Ile1158Met) c.3324T>G (p.Ile1108Met) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128338118A>G | CA446310743 | FBN2 | n.261T>C n.342T>C c.3477T>C (p.Ile1159=) c.27T>C (p.Ile9=) c.3378T>C (p.Ile1126=) c.3474T>C (p.Ile1158=) c.3324T>C (p.Ile1108=) | gnomAD v4 |
| 5 | g.128338118A>T | CA446310744 | FBN2 | n.261T>A n.342T>A c.3477T>A (p.Ile1159=) c.27T>A (p.Ile9=) c.3378T>A (p.Ile1126=) c.3474T>A (p.Ile1158=) c.3324T>A (p.Ile1108=) | |
| 5 | g.128338119A= | CA1581270764 | FBN2 | n.260T= n.341T= c.3476T= (p.Ile1159=) c.26T= (p.Ile9=) c.3377T= (p.Ile1126=) c.3473T= (p.Ile1158=) c.3323T= (p.Ile1108=) | |
| 5 | g.128338119A>C | CA360759601 | FBN2 | n.260T>G n.341T>G c.3476T>G (p.Ile1159Ser) c.26T>G (p.Ile9Ser) c.3377T>G (p.Ile1126Ser) c.3473T>G (p.Ile1158Ser) c.3323T>G (p.Ile1108Ser) | |
| 5 | g.128338119A>G | CA3395214 | FBN2 | n.260T>C n.341T>C c.3476T>C (p.Ile1159Thr) c.26T>C (p.Ile9Thr) c.3377T>C (p.Ile1126Thr) c.3473T>C (p.Ile1158Thr) c.3323T>C (p.Ile1108Thr) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128338119A>T | CA360759604 | FBN2 | n.260T>A n.341T>A c.3476T>A (p.Ile1159Asn) c.26T>A (p.Ile9Asn) c.3377T>A (p.Ile1126Asn) c.3473T>A (p.Ile1158Asn) c.3323T>A (p.Ile1108Asn) | COSMIC COSMIC |
| 5 | g.128338120T>A | CA360759605 | FBN2 | n.259A>T n.340A>T c.3475A>T (p.Ile1159Phe) c.25A>T (p.Ile9Phe) c.3376A>T (p.Ile1126Phe) c.3472A>T (p.Ile1158Phe) c.3322A>T (p.Ile1108Phe) | ClinVar dbSNP |
| 5 | g.128338120T>C | CA3395215 | FBN2 | n.259A>G n.340A>G c.3475A>G (p.Ile1159Val) c.25A>G (p.Ile9Val) c.3376A>G (p.Ile1126Val) c.3472A>G (p.Ile1158Val) c.3322A>G (p.Ile1108Val) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128338120T>G | CA360759608 | FBN2 | n.259A>C n.340A>C c.3475A>C (p.Ile1159Leu) c.25A>C (p.Ile9Leu) c.3376A>C (p.Ile1126Leu) c.3472A>C (p.Ile1158Leu) c.3322A>C (p.Ile1108Leu) | |
| 5 | g.128338120T= | CA1581270765 | FBN2 | n.259A= n.340A= c.3475A= (p.Ile1159=) c.25A= (p.Ile9=) c.3376A= (p.Ile1126=) c.3472A= (p.Ile1158=) c.3322A= (p.Ile1108=) | |
| 5 | g.128338121G>A | CA446310745 | FBN2 | n.258C>T n.339C>T c.3474C>T (p.Asp1158=) c.24C>T (p.Asp8=) c.3375C>T (p.Asp1125=) c.3471C>T (p.Asp1157=) c.3321C>T (p.Asp1107=) | ClinVar gnomAD v4 |
| 5 | g.128338121G>C | CA360759612 | FBN2 | n.258C>G n.339C>G c.3474C>G (p.Asp1158Glu) c.24C>G (p.Asp8Glu) c.3375C>G (p.Asp1125Glu) c.3471C>G (p.Asp1157Glu) c.3321C>G (p.Asp1107Glu) | |
| 5 | g.128338121G>T | CA360759609 | FBN2 | n.258C>A n.339C>A c.3474C>A (p.Asp1158Glu) c.24C>A (p.Asp8Glu) c.3375C>A (p.Asp1125Glu) c.3471C>A (p.Asp1157Glu) c.3321C>A (p.Asp1107Glu) | |
| 5 | g.128338122T>A | CA360759615 | FBN2 | n.257A>T n.338A>T c.3473A>T (p.Asp1158Val) c.23A>T (p.Asp8Val) c.3374A>T (p.Asp1125Val) c.3470A>T (p.Asp1157Val) c.3320A>T (p.Asp1107Val) | |
| 5 | g.128338122T>C | CA360759618 | FBN2 | n.257A>G n.338A>G c.3473A>G (p.Asp1158Gly) c.23A>G (p.Asp8Gly) c.3374A>G (p.Asp1125Gly) c.3470A>G (p.Asp1157Gly) c.3320A>G (p.Asp1107Gly) |