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.128332915T>A | CA360754587 | FBN2 | n.1003A>T n.1084A>T c.4219A>T (p.Ile1407Phe) c.769A>T (p.Ile257Phe) c.4120A>T (p.Ile1374Phe) c.4216A>T (p.Ile1406Phe) c.4066A>T (p.Ile1356Phe) | |
| 5 | g.128332915T>C | CA360754586 | FBN2 | n.1003A>G n.1084A>G c.4219A>G (p.Ile1407Val) c.769A>G (p.Ile257Val) c.4120A>G (p.Ile1374Val) c.4216A>G (p.Ile1406Val) c.4066A>G (p.Ile1356Val) | dbSNP |
| 5 | g.128332915T>G | CA360754582 | FBN2 | n.1003A>C n.1084A>C c.4219A>C (p.Ile1407Leu) c.769A>C (p.Ile257Leu) c.4120A>C (p.Ile1374Leu) c.4216A>C (p.Ile1406Leu) c.4066A>C (p.Ile1356Leu) | |
| 5 | g.128332915T= | CA1581268376 | FBN2 | n.1003A= n.1084A= c.4219A= (p.Ile1407=) c.769A= (p.Ile257=) c.4120A= (p.Ile1374=) c.4216A= (p.Ile1406=) c.4066A= (p.Ile1356=) | |
| 5 | g.128332916A>C | CA360754591 | FBN2 | n.1002T>G n.1083T>G c.4218T>G (p.Cys1406Trp) c.768T>G (p.Cys256Trp) c.4119T>G (p.Cys1373Trp) c.4215T>G (p.Cys1405Trp) c.4065T>G (p.Cys1355Trp) | |
| 5 | g.128332916A>G | CA446309413 | FBN2 | n.1002T>C n.1083T>C c.4218T>C (p.Cys1406=) c.768T>C (p.Cys256=) c.4119T>C (p.Cys1373=) c.4215T>C (p.Cys1405=) c.4065T>C (p.Cys1355=) | |
| 5 | g.128332916A>T | CA360754595 | FBN2 | n.1002T>A n.1083T>A c.4218T>A (p.Cys1406Ter) c.768T>A (p.Cys256Ter) c.4119T>A (p.Cys1373Ter) c.4215T>A (p.Cys1405Ter) c.4065T>A (p.Cys1355Ter) | |
| 5 | g.128332917C>A | CA360754599 | FBN2 | n.1001G>T n.1082G>T c.4217G>T (p.Cys1406Phe) c.767G>T (p.Cys256Phe) c.4118G>T (p.Cys1373Phe) c.4214G>T (p.Cys1405Phe) c.4064G>T (p.Cys1355Phe) | |
| 5 | g.128332917C>G | CA360754601 | FBN2 | n.1001G>C n.1082G>C c.4217G>C (p.Cys1406Ser) c.767G>C (p.Cys256Ser) c.4118G>C (p.Cys1373Ser) c.4214G>C (p.Cys1405Ser) c.4064G>C (p.Cys1355Ser) | |
| 5 | g.128332917C>T | CA360754603 | FBN2 | n.1001G>A n.1082G>A c.4217G>A (p.Cys1406Tyr) c.767G>A (p.Cys256Tyr) c.4118G>A (p.Cys1373Tyr) c.4214G>A (p.Cys1405Tyr) c.4064G>A (p.Cys1355Tyr) | |
| 5 | g.128332918A>C | CA360754605 | FBN2 | n.1000T>G n.1081T>G c.4216T>G (p.Cys1406Gly) c.766T>G (p.Cys256Gly) c.4117T>G (p.Cys1373Gly) c.4213T>G (p.Cys1405Gly) c.4063T>G (p.Cys1355Gly) | |
| 5 | g.128332918A>G | CA360754606 | FBN2 | n.1000T>C n.1081T>C c.4216T>C (p.Cys1406Arg) c.766T>C (p.Cys256Arg) c.4117T>C (p.Cys1373Arg) c.4213T>C (p.Cys1405Arg) c.4063T>C (p.Cys1355Arg) | |
| 5 | g.128332918A>T | CA360754612 | FBN2 | n.1000T>A n.1081T>A c.4216T>A (p.Cys1406Ser) c.766T>A (p.Cys256Ser) c.4117T>A (p.Cys1373Ser) c.4213T>A (p.Cys1405Ser) c.4063T>A (p.Cys1355Ser) | |
| 5 | g.128332919C>A | CA360754613 | FBN2 | n.999G>T n.1080G>T c.4215G>T (p.Lys1405Asn) c.765G>T (p.Lys255Asn) c.4116G>T (p.Lys1372Asn) c.4212G>T (p.Lys1404Asn) c.4062G>T (p.Lys1354Asn) | |
| 5 | g.128332919C= | CA1581268377 | FBN2 | n.999G= n.1080G= c.4215G= (p.Lys1405=) c.765G= (p.Lys255=) c.4116G= (p.Lys1372=) c.4212G= (p.Lys1404=) c.4062G= (p.Lys1354=) | |
| 5 | g.128332919C>G | CA360754615 | FBN2 | n.999G>C n.1080G>C c.4215G>C (p.Lys1405Asn) c.765G>C (p.Lys255Asn) c.4116G>C (p.Lys1372Asn) c.4212G>C (p.Lys1404Asn) c.4062G>C (p.Lys1354Asn) | |
| 5 | g.128332919C>T | CA446309417 | FBN2 | n.999G>A n.1080G>A c.4215G>A (p.Lys1405=) c.765G>A (p.Lys255=) c.4116G>A (p.Lys1372=) c.4212G>A (p.Lys1404=) c.4062G>A (p.Lys1354=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128332920T>A | CA360754619 | FBN2 | n.998A>T n.1079A>T c.4214A>T (p.Lys1405Met) c.764A>T (p.Lys255Met) c.4115A>T (p.Lys1372Met) c.4211A>T (p.Lys1404Met) c.4061A>T (p.Lys1354Met) | gnomAD v4 |
| 5 | g.128332920T>C | CA360754621 | FBN2 | n.998A>G n.1079A>G c.4214A>G (p.Lys1405Arg) c.764A>G (p.Lys255Arg) c.4115A>G (p.Lys1372Arg) c.4211A>G (p.Lys1404Arg) c.4061A>G (p.Lys1354Arg) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128332920T>G | CA360754623 | FBN2 | n.998A>C n.1079A>C c.4214A>C (p.Lys1405Thr) c.764A>C (p.Lys255Thr) c.4115A>C (p.Lys1372Thr) c.4211A>C (p.Lys1404Thr) c.4061A>C (p.Lys1354Thr) | |
| 5 | g.128332920T= | CA1581268378 | FBN2 | n.998A= n.1079A= c.4214A= (p.Lys1405=) c.764A= (p.Lys255=) c.4115A= (p.Lys1372=) c.4211A= (p.Lys1404=) c.4061A= (p.Lys1354=) | |
| 5 | g.128332921T>A | CA360754629 | FBN2 | n.997A>T n.1078A>T c.4213A>T (p.Lys1405Ter) c.763A>T (p.Lys255Ter) c.4114A>T (p.Lys1372Ter) c.4210A>T (p.Lys1404Ter) c.4060A>T (p.Lys1354Ter) | |
| 5 | g.128332921T>C | CA360754632 | FBN2 | n.997A>G n.1078A>G c.4213A>G (p.Lys1405Glu) c.763A>G (p.Lys255Glu) c.4114A>G (p.Lys1372Glu) c.4210A>G (p.Lys1404Glu) c.4060A>G (p.Lys1354Glu) | |
| 5 | g.128332921T>G | CA3395038 | FBN2 | n.997A>C n.1078A>C c.4213A>C (p.Lys1405Gln) c.763A>C (p.Lys255Gln) c.4114A>C (p.Lys1372Gln) c.4210A>C (p.Lys1404Gln) c.4060A>C (p.Lys1354Gln) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128332921T= | CA1581268379 | FBN2 | n.997A= n.1078A= c.4213A= (p.Lys1405=) c.763A= (p.Lys255=) c.4114A= (p.Lys1372=) c.4210A= (p.Lys1404=) c.4060A= (p.Lys1354=) | |
| 5 | g.128332922G>A | CA446309419 | FBN2 | n.996C>T n.1077C>T c.4212C>T (p.Ile1404=) c.762C>T (p.Ile254=) c.4113C>T (p.Ile1371=) c.4209C>T (p.Ile1403=) c.4059C>T (p.Ile1353=) | |
| 5 | g.128332922G>C | CA360754634 | FBN2 | n.996C>G n.1077C>G c.4212C>G (p.Ile1404Met) c.762C>G (p.Ile254Met) c.4113C>G (p.Ile1371Met) c.4209C>G (p.Ile1403Met) c.4059C>G (p.Ile1353Met) | |
| 5 | g.128332922G>T | CA446309422 | FBN2 | n.996C>A n.1077C>A c.4212C>A (p.Ile1404=) c.762C>A (p.Ile254=) c.4113C>A (p.Ile1371=) c.4209C>A (p.Ile1403=) c.4059C>A (p.Ile1353=) | |
| 5 | g.128332923A>C | CA360754639 | FBN2 | n.995T>G n.1076T>G c.4211T>G (p.Ile1404Ser) c.761T>G (p.Ile254Ser) c.4112T>G (p.Ile1371Ser) c.4208T>G (p.Ile1403Ser) c.4058T>G (p.Ile1353Ser) | COSMIC COSMIC |
| 5 | g.128332923A>G | CA360754642 | FBN2 | n.995T>C n.1076T>C c.4211T>C (p.Ile1404Thr) c.761T>C (p.Ile254Thr) c.4112T>C (p.Ile1371Thr) c.4208T>C (p.Ile1403Thr) c.4058T>C (p.Ile1353Thr) | |
| 5 | g.128332923A>T | CA360754644 | FBN2 | n.995T>A n.1076T>A c.4211T>A (p.Ile1404Asn) c.761T>A (p.Ile254Asn) c.4112T>A (p.Ile1371Asn) c.4208T>A (p.Ile1403Asn) c.4058T>A (p.Ile1353Asn) | |
| 5 | g.128332924T>A | CA360754648 | FBN2 | n.994A>T n.1075A>T c.4210A>T (p.Ile1404Phe) c.760A>T (p.Ile254Phe) c.4111A>T (p.Ile1371Phe) c.4207A>T (p.Ile1403Phe) c.4057A>T (p.Ile1353Phe) | |
| 5 | g.128332924T>C | CA360754652 | FBN2 | n.994A>G n.1075A>G c.4210A>G (p.Ile1404Val) c.760A>G (p.Ile254Val) c.4111A>G (p.Ile1371Val) c.4207A>G (p.Ile1403Val) c.4057A>G (p.Ile1353Val) | COSMIC COSMIC |
| 5 | g.128332924T>G | CA360754656 | FBN2 | n.994A>C n.1075A>C c.4210A>C (p.Ile1404Leu) c.760A>C (p.Ile254Leu) c.4111A>C (p.Ile1371Leu) c.4207A>C (p.Ile1403Leu) c.4057A>C (p.Ile1353Leu) | gnomAD v4 |
| 5 | g.128332925G>A | CA446309425 | FBN2 | n.993C>T n.1074C>T c.4209C>T (p.Gly1403=) c.759C>T (p.Gly253=) c.4110C>T (p.Gly1370=) c.4206C>T (p.Gly1402=) c.4056C>T (p.Gly1352=) | |
| 5 | g.128332925G>C | CA446309428 | FBN2 | n.993C>G n.1074C>G c.4209C>G (p.Gly1403=) c.759C>G (p.Gly253=) c.4110C>G (p.Gly1370=) c.4206C>G (p.Gly1402=) c.4056C>G (p.Gly1352=) | |
| 5 | g.128332925G>T | CA446309429 | FBN2 | n.993C>A n.1074C>A c.4209C>A (p.Gly1403=) c.759C>A (p.Gly253=) c.4110C>A (p.Gly1370=) c.4206C>A (p.Gly1402=) c.4056C>A (p.Gly1352=) | |
| 5 | g.128332926C>A | CA360754659 | FBN2 | n.992G>T n.1073G>T c.4208G>T (p.Gly1403Val) c.758G>T (p.Gly253Val) c.4109G>T (p.Gly1370Val) c.4205G>T (p.Gly1402Val) c.4055G>T (p.Gly1352Val) | |
| 5 | g.128332926C= | CA1581268380 | FBN2 | n.992G= n.1073G= c.4208G= (p.Gly1403=) c.758G= (p.Gly253=) c.4109G= (p.Gly1370=) c.4205G= (p.Gly1402=) c.4055G= (p.Gly1352=) | |
| 5 | g.128332926C>G | CA360754662 | FBN2 | n.992G>C n.1073G>C c.4208G>C (p.Gly1403Ala) c.758G>C (p.Gly253Ala) c.4109G>C (p.Gly1370Ala) c.4205G>C (p.Gly1402Ala) c.4055G>C (p.Gly1352Ala) | |
| 5 | g.128332926C>T | CA3395039 | FBN2 | n.992G>A n.1073G>A c.4208G>A (p.Gly1403Asp) c.758G>A (p.Gly253Asp) c.4109G>A (p.Gly1370Asp) c.4205G>A (p.Gly1402Asp) c.4055G>A (p.Gly1352Asp) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128332927C>A | CA360754667 | FBN2 | n.991G>T n.1072G>T c.4207G>T (p.Gly1403Cys) c.757G>T (p.Gly253Cys) c.4108G>T (p.Gly1370Cys) c.4204G>T (p.Gly1402Cys) c.4054G>T (p.Gly1352Cys) | |
| 5 | g.128332927C= | CA1581268381 | FBN2 | n.991G= n.1072G= c.4207G= (p.Gly1403=) c.757G= (p.Gly253=) c.4108G= (p.Gly1370=) c.4204G= (p.Gly1402=) c.4054G= (p.Gly1352=) | |
| 5 | g.128332927C>G | CA127006943 | FBN2 | n.991G>C n.1072G>C c.4207G>C (p.Gly1403Arg) c.757G>C (p.Gly253Arg) c.4108G>C (p.Gly1370Arg) c.4204G>C (p.Gly1402Arg) c.4054G>C (p.Gly1352Arg) | dbSNP gnomAD v4 |
| 5 | g.128332927C>T | CA3395040 | FBN2 | n.991G>A n.1072G>A c.4207G>A (p.Gly1403Ser) c.757G>A (p.Gly253Ser) c.4108G>A (p.Gly1370Ser) c.4204G>A (p.Gly1402Ser) c.4054G>A (p.Gly1352Ser) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128332928G>A | CA288824 | FBN2 | n.990C>T n.1071C>T c.4206C>T (p.Asn1402=) c.756C>T (p.Asn252=) c.4107C>T (p.Asn1369=) c.4203C>T (p.Asn1401=) c.4053C>T (p.Asn1351=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128332928G>C | CA360754677 | FBN2 | n.990C>G n.1071C>G c.4206C>G (p.Asn1402Lys) c.756C>G (p.Asn252Lys) c.4107C>G (p.Asn1369Lys) c.4203C>G (p.Asn1401Lys) c.4053C>G (p.Asn1351Lys) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128332928G= | CA1581268382 | FBN2 | n.990C= n.1071C= c.4206C= (p.Asn1402=) c.756C= (p.Asn252=) c.4107C= (p.Asn1369=) c.4203C= (p.Asn1401=) c.4053C= (p.Asn1351=) | |
| 5 | g.128332928G>T | CA3395041 | FBN2 | n.990C>A n.1071C>A c.4206C>A (p.Asn1402Lys) c.756C>A (p.Asn252Lys) c.4107C>A (p.Asn1369Lys) c.4203C>A (p.Asn1401Lys) c.4053C>A (p.Asn1351Lys) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128332929T>A | CA360754680 | FBN2 | n.989A>T n.1070A>T c.4205A>T (p.Asn1402Ile) c.755A>T (p.Asn252Ile) c.4106A>T (p.Asn1369Ile) c.4202A>T (p.Asn1401Ile) c.4052A>T (p.Asn1351Ile) |