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.128336047G>A | CA360758300 | FBN2 | n.449C>T n.530C>T c.3665C>T (p.Thr1222Ile) c.215C>T (p.Thr72Ile) c.3566C>T (p.Thr1189Ile) c.3662C>T (p.Thr1221Ile) c.3512C>T (p.Thr1171Ile) | gnomAD v4 |
| 5 | g.128336047G>C | CA360758302 | FBN2 | n.449C>G n.530C>G c.3665C>G (p.Thr1222Ser) c.215C>G (p.Thr72Ser) c.3566C>G (p.Thr1189Ser) c.3662C>G (p.Thr1221Ser) c.3512C>G (p.Thr1171Ser) | |
| 5 | g.128336047G>T | CA360758301 | FBN2 | n.449C>A n.530C>A c.3665C>A (p.Thr1222Asn) c.215C>A (p.Thr72Asn) c.3566C>A (p.Thr1189Asn) c.3662C>A (p.Thr1221Asn) c.3512C>A (p.Thr1171Asn) | |
| 5 | g.128336048T>A | CA360758303 | FBN2 | n.448A>T n.529A>T c.3664A>T (p.Thr1222Ser) c.214A>T (p.Thr72Ser) c.3565A>T (p.Thr1189Ser) c.3661A>T (p.Thr1221Ser) c.3511A>T (p.Thr1171Ser) | |
| 5 | g.128336048T>C | CA360758305 | FBN2 | n.448A>G n.529A>G c.3664A>G (p.Thr1222Ala) c.214A>G (p.Thr72Ala) c.3565A>G (p.Thr1189Ala) c.3661A>G (p.Thr1221Ala) c.3511A>G (p.Thr1171Ala) | gnomAD v3 gnomAD v4 |
| 5 | g.128336048T>G | CA360758304 | FBN2 | n.448A>C n.529A>C c.3664A>C (p.Thr1222Pro) c.214A>C (p.Thr72Pro) c.3565A>C (p.Thr1189Pro) c.3661A>C (p.Thr1221Pro) c.3511A>C (p.Thr1171Pro) | |
| 5 | g.128336049T>A | CA446310419 | FBN2 | n.447A>T n.528A>T c.3663A>T (p.Gly1221=) c.213A>T (p.Gly71=) c.3564A>T (p.Gly1188=) c.3660A>T (p.Gly1220=) c.3510A>T (p.Gly1170=) | |
| 5 | g.128336049T>C | CA446310420 | FBN2 | n.447A>G n.528A>G c.3663A>G (p.Gly1221=) c.213A>G (p.Gly71=) c.3564A>G (p.Gly1188=) c.3660A>G (p.Gly1220=) c.3510A>G (p.Gly1170=) | |
| 5 | g.128336049T>G | CA446310421 | FBN2 | n.447A>C n.528A>C c.3663A>C (p.Gly1221=) c.213A>C (p.Gly71=) c.3564A>C (p.Gly1188=) c.3660A>C (p.Gly1220=) c.3510A>C (p.Gly1170=) | |
| 5 | g.128336050C>A | CA360758306 | FBN2 | n.446G>T n.527G>T c.3662G>T (p.Gly1221Val) c.212G>T (p.Gly71Val) c.3563G>T (p.Gly1188Val) c.3659G>T (p.Gly1220Val) c.3509G>T (p.Gly1170Val) | |
| 5 | g.128336050C>G | CA360758307 | FBN2 | n.446G>C n.527G>C c.3662G>C (p.Gly1221Ala) c.212G>C (p.Gly71Ala) c.3563G>C (p.Gly1188Ala) c.3659G>C (p.Gly1220Ala) c.3509G>C (p.Gly1170Ala) | |
| 5 | g.128336050C>T | CA360758308 | FBN2 | n.446G>A n.527G>A c.3662G>A (p.Gly1221Glu) c.212G>A (p.Gly71Glu) c.3563G>A (p.Gly1188Glu) c.3659G>A (p.Gly1220Glu) c.3509G>A (p.Gly1170Glu) | |
| 5 | g.128336051C>A | CA360758309 | FBN2 | n.445G>T n.526G>T c.3661G>T (p.Gly1221Ter) c.211G>T (p.Gly71Ter) c.3562G>T (p.Gly1188Ter) c.3658G>T (p.Gly1220Ter) c.3508G>T (p.Gly1170Ter) | |
| 5 | g.128336051C>G | CA360758310 | FBN2 | n.445G>C n.526G>C c.3661G>C (p.Gly1221Arg) c.211G>C (p.Gly71Arg) c.3562G>C (p.Gly1188Arg) c.3658G>C (p.Gly1220Arg) c.3508G>C (p.Gly1170Arg) | |
| 5 | g.128336051C>T | CA360758311 | FBN2 | n.445G>A n.526G>A c.3661G>A (p.Gly1221Arg) c.211G>A (p.Gly71Arg) c.3562G>A (p.Gly1188Arg) c.3658G>A (p.Gly1220Arg) c.3508G>A (p.Gly1170Arg) | |
| 5 | g.128336052A= | CA1581269844 | FBN2 | n.444T= n.525T= c.3660T= (p.Ile1220=) c.210T= (p.Ile70=) c.3561T= (p.Ile1187=) c.3657T= (p.Ile1219=) c.3507T= (p.Ile1169=) | |
| 5 | g.128336052A>C | CA3395173 | FBN2 | n.444T>G n.525T>G c.3660T>G (p.Ile1220Met) c.210T>G (p.Ile70Met) c.3561T>G (p.Ile1187Met) c.3657T>G (p.Ile1219Met) c.3507T>G (p.Ile1169Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128336052A>G | CA446310422 | FBN2 | n.444T>C n.525T>C c.3660T>C (p.Ile1220=) c.210T>C (p.Ile70=) c.3561T>C (p.Ile1187=) c.3657T>C (p.Ile1219=) c.3507T>C (p.Ile1169=) | |
| 5 | g.128336052A>T | CA446310423 | FBN2 | n.444T>A n.525T>A c.3660T>A (p.Ile1220=) c.210T>A (p.Ile70=) c.3561T>A (p.Ile1187=) c.3657T>A (p.Ile1219=) c.3507T>A (p.Ile1169=) | |
| 5 | g.128336053A>C | CA360758314 | FBN2 | n.443T>G n.524T>G c.3659T>G (p.Ile1220Ser) c.209T>G (p.Ile70Ser) c.3560T>G (p.Ile1187Ser) c.3656T>G (p.Ile1219Ser) c.3506T>G (p.Ile1169Ser) | |
| 5 | g.128336053A>G | CA360758312 | FBN2 | n.443T>C n.524T>C c.3659T>C (p.Ile1220Thr) c.209T>C (p.Ile70Thr) c.3560T>C (p.Ile1187Thr) c.3656T>C (p.Ile1219Thr) c.3506T>C (p.Ile1169Thr) | |
| 5 | g.128336053A>T | CA360758313 | FBN2 | n.443T>A n.524T>A c.3659T>A (p.Ile1220Asn) c.209T>A (p.Ile70Asn) c.3560T>A (p.Ile1187Asn) c.3656T>A (p.Ile1219Asn) c.3506T>A (p.Ile1169Asn) | |
| 5 | g.128336054T>A | CA360758315 | FBN2 | n.442A>T n.523A>T c.3658A>T (p.Ile1220Phe) c.208A>T (p.Ile70Phe) c.3559A>T (p.Ile1187Phe) c.3655A>T (p.Ile1219Phe) c.3505A>T (p.Ile1169Phe) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128336054T>C | CA360758316 | FBN2 | n.442A>G n.523A>G c.3658A>G (p.Ile1220Val) c.208A>G (p.Ile70Val) c.3559A>G (p.Ile1187Val) c.3655A>G (p.Ile1219Val) c.3505A>G (p.Ile1169Val) | |
| 5 | g.128336054T>G | CA360758317 | FBN2 | n.442A>C n.523A>C c.3658A>C (p.Ile1220Leu) c.208A>C (p.Ile70Leu) c.3559A>C (p.Ile1187Leu) c.3655A>C (p.Ile1219Leu) c.3505A>C (p.Ile1169Leu) | |
| 5 | g.128336054T= | CA1581269845 | FBN2 | n.442A= n.523A= c.3658A= (p.Ile1220=) c.208A= (p.Ile70=) c.3559A= (p.Ile1187=) c.3655A= (p.Ile1219=) c.3505A= (p.Ile1169=) | |
| 5 | g.128336055C>A | CA360758318 | FBN2 | n.441G>T n.522G>T c.3657G>T (p.Met1219Ile) c.207G>T (p.Met69Ile) c.3558G>T (p.Met1186Ile) c.3654G>T (p.Met1218Ile) c.3504G>T (p.Met1168Ile) | |
| 5 | g.128336055C>G | CA360758319 | FBN2 | n.441G>C n.522G>C c.3657G>C (p.Met1219Ile) c.207G>C (p.Met69Ile) c.3558G>C (p.Met1186Ile) c.3654G>C (p.Met1218Ile) c.3504G>C (p.Met1168Ile) | |
| 5 | g.128336055C>T | CA360758320 | FBN2 | n.441G>A n.522G>A c.3657G>A (p.Met1219Ile) c.207G>A (p.Met69Ile) c.3558G>A (p.Met1186Ile) c.3654G>A (p.Met1218Ile) c.3504G>A (p.Met1168Ile) | |
| 5 | g.128336056A= | CA1581269847 | FBN2 | n.440T= n.521T= c.3656T= (p.Met1219=) c.206T= (p.Met69=) c.3557T= (p.Met1186=) c.3653T= (p.Met1218=) c.3503T= (p.Met1168=) | |
| 5 | g.128336056A>C | CA360758321 | FBN2 | n.440T>G n.521T>G c.3656T>G (p.Met1219Arg) c.206T>G (p.Met69Arg) c.3557T>G (p.Met1186Arg) c.3653T>G (p.Met1218Arg) c.3503T>G (p.Met1168Arg) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128336056A>G | CA323443 | FBN2 | n.440T>C n.521T>C c.3656T>C (p.Met1219Thr) c.206T>C (p.Met69Thr) c.3557T>C (p.Met1186Thr) c.3653T>C (p.Met1218Thr) c.3503T>C (p.Met1168Thr) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128336056A>T | CA360758322 | FBN2 | n.440T>A n.521T>A c.3656T>A (p.Met1219Lys) c.206T>A (p.Met69Lys) c.3557T>A (p.Met1186Lys) c.3653T>A (p.Met1218Lys) c.3503T>A (p.Met1168Lys) | |
| 5 | g.128336056_128336057delinsAT | CA1581269846 | FBN2 | n.439_440delinsAT n.520_521delinsAT c.3655_3656delinsAT (p.Met1219=) c.205_206delinsAT (p.Met69=) c.3556_3557delinsAT (p.Met1186=) c.3652_3653delinsAT (p.Met1218=) c.3502_3503delinsAT (p.Met1168=) | |
| 5 | g.128336057del | CA562715660 | FBN2 | n.439del n.520del c.3655del (p.Met1219Ter) c.205del (p.Met69Ter) c.3556del (p.Met1186Ter) c.3652del (p.Met1218Ter) c.3502del (p.Met1168Ter) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128336057T>A | CA360758323 | FBN2 | n.439A>T n.520A>T c.3655A>T (p.Met1219Leu) c.205A>T (p.Met69Leu) c.3556A>T (p.Met1186Leu) c.3652A>T (p.Met1218Leu) c.3502A>T (p.Met1168Leu) | gnomAD v4 |
| 5 | g.128336057T>C | CA3395174 | FBN2 | n.439A>G n.520A>G c.3655A>G (p.Met1219Val) c.205A>G (p.Met69Val) c.3556A>G (p.Met1186Val) c.3652A>G (p.Met1218Val) c.3502A>G (p.Met1168Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128336057T>G | CA360758324 | FBN2 | n.439A>C n.520A>C c.3655A>C (p.Met1219Leu) c.205A>C (p.Met69Leu) c.3556A>C (p.Met1186Leu) c.3652A>C (p.Met1218Leu) c.3502A>C (p.Met1168Leu) | |
| 5 | g.128336057T= | CA1581269848 | FBN2 | n.439A= n.520A= c.3655A= (p.Met1219=) c.205A= (p.Met69=) c.3556A= (p.Met1186=) c.3652A= (p.Met1218=) c.3502A= (p.Met1168=) | |
| 5 | g.128336058G>A | CA446310424 | FBN2 | n.438C>T n.519C>T c.3654C>T (p.Asn1218=) c.204C>T (p.Asn68=) c.3555C>T (p.Asn1185=) c.3651C>T (p.Asn1217=) c.3501C>T (p.Asn1167=) | gnomAD v4 |
| 5 | g.128336058G>C | CA360758325 | FBN2 | n.438C>G n.519C>G c.3654C>G (p.Asn1218Lys) c.204C>G (p.Asn68Lys) c.3555C>G (p.Asn1185Lys) c.3651C>G (p.Asn1217Lys) c.3501C>G (p.Asn1167Lys) | ClinVar |
| 5 | g.128336058G>T | CA360758326 | FBN2 | n.438C>A n.519C>A c.3654C>A (p.Asn1218Lys) c.204C>A (p.Asn68Lys) c.3555C>A (p.Asn1185Lys) c.3651C>A (p.Asn1217Lys) c.3501C>A (p.Asn1167Lys) | gnomAD v4 |
| 5 | g.128336059T>A | CA360758327 | FBN2 | n.437A>T n.518A>T c.3653A>T (p.Asn1218Ile) c.203A>T (p.Asn68Ile) c.3554A>T (p.Asn1185Ile) c.3650A>T (p.Asn1217Ile) c.3500A>T (p.Asn1167Ile) | |
| 5 | g.128336059T>C | CA360758328 | FBN2 | n.437A>G n.518A>G c.3653A>G (p.Asn1218Ser) c.203A>G (p.Asn68Ser) c.3554A>G (p.Asn1185Ser) c.3650A>G (p.Asn1217Ser) c.3500A>G (p.Asn1167Ser) | gnomAD v4 COSMIC COSMIC |
| 5 | g.128336059T>G | CA360758329 | FBN2 | n.437A>C n.518A>C c.3653A>C (p.Asn1218Thr) c.203A>C (p.Asn68Thr) c.3554A>C (p.Asn1185Thr) c.3650A>C (p.Asn1217Thr) c.3500A>C (p.Asn1167Thr) | |
| 5 | g.128336060T>A | CA360758330 | FBN2 | n.436A>T n.517A>T c.3652A>T (p.Asn1218Tyr) c.202A>T (p.Asn68Tyr) c.3553A>T (p.Asn1185Tyr) c.3649A>T (p.Asn1217Tyr) c.3499A>T (p.Asn1167Tyr) | |
| 5 | g.128336060T>C | CA360758331 | FBN2 | n.436A>G n.517A>G c.3652A>G (p.Asn1218Asp) c.202A>G (p.Asn68Asp) c.3553A>G (p.Asn1185Asp) c.3649A>G (p.Asn1217Asp) c.3499A>G (p.Asn1167Asp) | |
| 5 | g.128336060T>G | CA360758332 | FBN2 | n.436A>C n.517A>C c.3652A>C (p.Asn1218His) c.202A>C (p.Asn68His) c.3553A>C (p.Asn1185His) c.3649A>C (p.Asn1217His) c.3499A>C (p.Asn1167His) | |
| 5 | g.128336061C>A | CA446310425 | FBN2 | n.435G>T n.516G>T c.3651G>T (p.Val1217=) c.201G>T (p.Val67=) c.3552G>T (p.Val1184=) c.3648G>T (p.Val1216=) c.3498G>T (p.Val1166=) | |
| 5 | g.128336061C= | CA1581269849 | FBN2 | n.435G= n.516G= c.3651G= (p.Val1217=) c.201G= (p.Val67=) c.3552G= (p.Val1184=) c.3648G= (p.Val1216=) c.3498G= (p.Val1166=) |