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.128335268T>A | CA360757503 | FBN2 | n.659A>T n.740A>T c.3875A>T (p.Asp1292Val) c.425A>T (p.Asp142Val) c.3776A>T (p.Asp1259Val) c.3872A>T (p.Asp1291Val) c.3722A>T (p.Asp1241Val) | |
| 5 | g.128335268T>C | CA360757505 | FBN2 | n.659A>G n.740A>G c.3875A>G (p.Asp1292Gly) c.425A>G (p.Asp142Gly) c.3776A>G (p.Asp1259Gly) c.3872A>G (p.Asp1291Gly) c.3722A>G (p.Asp1241Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128335268T>G | CA360757507 | FBN2 | n.659A>C n.740A>C c.3875A>C (p.Asp1292Ala) c.425A>C (p.Asp142Ala) c.3776A>C (p.Asp1259Ala) c.3872A>C (p.Asp1291Ala) c.3722A>C (p.Asp1241Ala) | |
| 5 | g.128335268T= | CA1581269507 | FBN2 | n.659A= n.740A= c.3875A= (p.Asp1292=) c.425A= (p.Asp142=) c.3776A= (p.Asp1259=) c.3872A= (p.Asp1291=) c.3722A= (p.Asp1241=) | |
| 5 | g.128335269C>A | CA360757509 | FBN2 | n.658G>T n.739G>T c.3874G>T (p.Asp1292Tyr) c.424G>T (p.Asp142Tyr) c.3775G>T (p.Asp1259Tyr) c.3871G>T (p.Asp1291Tyr) c.3721G>T (p.Asp1241Tyr) | ClinVar dbSNP |
| 5 | g.128335269C= | CA1581269508 | FBN2 | n.658G= n.739G= c.3874G= (p.Asp1292=) c.424G= (p.Asp142=) c.3775G= (p.Asp1259=) c.3871G= (p.Asp1291=) c.3721G= (p.Asp1241=) | |
| 5 | g.128335269C>G | CA360757511 | FBN2 | n.658G>C n.739G>C c.3874G>C (p.Asp1292His) c.424G>C (p.Asp142His) c.3775G>C (p.Asp1259His) c.3871G>C (p.Asp1291His) c.3721G>C (p.Asp1241His) | |
| 5 | g.128335269C>T | CA360757513 | FBN2 | n.658G>A n.739G>A c.3874G>A (p.Asp1292Asn) c.424G>A (p.Asp142Asn) c.3775G>A (p.Asp1259Asn) c.3871G>A (p.Asp1291Asn) c.3721G>A (p.Asp1241Asn) | |
| 5 | g.128335270A= | CA1581269509 | FBN2 | n.657T= n.738T= c.3873T= (p.Pro1291=) c.423T= (p.Pro141=) c.3774T= (p.Pro1258=) c.3870T= (p.Pro1290=) c.3720T= (p.Pro1240=) | |
| 5 | g.128335270A>C | CA3395108 | FBN2 | n.657T>G n.738T>G c.3873T>G (p.Pro1291=) c.423T>G (p.Pro141=) c.3774T>G (p.Pro1258=) c.3870T>G (p.Pro1290=) c.3720T>G (p.Pro1240=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128335270A>G | CA446310091 | FBN2 | n.657T>C n.738T>C c.3873T>C (p.Pro1291=) c.423T>C (p.Pro141=) c.3774T>C (p.Pro1258=) c.3870T>C (p.Pro1290=) c.3720T>C (p.Pro1240=) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128335270A>T | CA446310092 | FBN2 | n.657T>A n.738T>A c.3873T>A (p.Pro1291=) c.423T>A (p.Pro141=) c.3774T>A (p.Pro1258=) c.3870T>A (p.Pro1290=) c.3720T>A (p.Pro1240=) | |
| 5 | g.128335271G>A | CA360757518 | FBN2 | n.656C>T n.737C>T c.3872C>T (p.Pro1291Leu) c.422C>T (p.Pro141Leu) c.3773C>T (p.Pro1258Leu) c.3869C>T (p.Pro1290Leu) c.3719C>T (p.Pro1240Leu) | |
| 5 | g.128335271G>C | CA360757519 | FBN2 | n.656C>G n.737C>G c.3872C>G (p.Pro1291Arg) c.422C>G (p.Pro141Arg) c.3773C>G (p.Pro1258Arg) c.3869C>G (p.Pro1290Arg) c.3719C>G (p.Pro1240Arg) | dbSNP |
| 5 | g.128335271G= | CA1581269510 | FBN2 | n.656C= n.737C= c.3872C= (p.Pro1291=) c.422C= (p.Pro141=) c.3773C= (p.Pro1258=) c.3869C= (p.Pro1290=) c.3719C= (p.Pro1240=) | |
| 5 | g.128335271G>T | CA360757517 | FBN2 | n.656C>A n.737C>A c.3872C>A (p.Pro1291His) c.422C>A (p.Pro141His) c.3773C>A (p.Pro1258His) c.3869C>A (p.Pro1290His) c.3719C>A (p.Pro1240His) | |
| 5 | g.128335272G>A | CA360757520 | FBN2 | n.655C>T n.736C>T c.3871C>T (p.Pro1291Ser) c.421C>T (p.Pro141Ser) c.3772C>T (p.Pro1258Ser) c.3868C>T (p.Pro1290Ser) c.3718C>T (p.Pro1240Ser) | COSMIC COSMIC |
| 5 | g.128335272G>C | CA360757521 | FBN2 | n.655C>G n.736C>G c.3871C>G (p.Pro1291Ala) c.421C>G (p.Pro141Ala) c.3772C>G (p.Pro1258Ala) c.3868C>G (p.Pro1290Ala) c.3718C>G (p.Pro1240Ala) | dbSNP |
| 5 | g.128335272G= | CA1581269511 | FBN2 | n.655C= n.736C= c.3871C= (p.Pro1291=) c.421C= (p.Pro141=) c.3772C= (p.Pro1258=) c.3868C= (p.Pro1290=) c.3718C= (p.Pro1240=) | |
| 5 | g.128335272G>T | CA360757523 | FBN2 | n.655C>A n.736C>A c.3871C>A (p.Pro1291Thr) c.421C>A (p.Pro141Thr) c.3772C>A (p.Pro1258Thr) c.3868C>A (p.Pro1290Thr) c.3718C>A (p.Pro1240Thr) | ClinVar |
| 5 | g.128335273A= | CA1581269512 | FBN2 | n.654T= n.735T= c.3870T= (p.Asn1290=) c.420T= (p.Asn140=) c.3771T= (p.Asn1257=) c.3867T= (p.Asn1289=) c.3717T= (p.Asn1239=) | |
| 5 | g.128335273A>C | CA360757526 | FBN2 | n.654T>G n.735T>G c.3870T>G (p.Asn1290Lys) c.420T>G (p.Asn140Lys) c.3771T>G (p.Asn1257Lys) c.3867T>G (p.Asn1289Lys) c.3717T>G (p.Asn1239Lys) | |
| 5 | g.128335273A>G | CA446310093 | FBN2 | n.654T>C n.735T>C c.3870T>C (p.Asn1290=) c.420T>C (p.Asn140=) c.3771T>C (p.Asn1257=) c.3867T>C (p.Asn1289=) c.3717T>C (p.Asn1239=) | dbSNP gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128335273A>T | CA360757527 | FBN2 | n.654T>A n.735T>A c.3870T>A (p.Asn1290Lys) c.420T>A (p.Asn140Lys) c.3771T>A (p.Asn1257Lys) c.3867T>A (p.Asn1289Lys) c.3717T>A (p.Asn1239Lys) | |
| 5 | g.128335274T>A | CA360757532 | FBN2 | n.653A>T n.734A>T c.3869A>T (p.Asn1290Ile) c.419A>T (p.Asn140Ile) c.3770A>T (p.Asn1257Ile) c.3866A>T (p.Asn1289Ile) c.3716A>T (p.Asn1239Ile) | |
| 5 | g.128335274T>C | CA3395109 | FBN2 | n.653A>G n.734A>G c.3869A>G (p.Asn1290Ser) c.419A>G (p.Asn140Ser) c.3770A>G (p.Asn1257Ser) c.3866A>G (p.Asn1289Ser) c.3716A>G (p.Asn1239Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128335274T>G | CA360757530 | FBN2 | n.653A>C n.734A>C c.3869A>C (p.Asn1290Thr) c.419A>C (p.Asn140Thr) c.3770A>C (p.Asn1257Thr) c.3866A>C (p.Asn1289Thr) c.3716A>C (p.Asn1239Thr) | |
| 5 | g.128335274T= | CA1581269513 | FBN2 | n.653A= n.734A= c.3869A= (p.Asn1290=) c.419A= (p.Asn140=) c.3770A= (p.Asn1257=) c.3866A= (p.Asn1289=) c.3716A= (p.Asn1239=) | |
| 5 | g.128335275T>A | CA360757535 | FBN2 | n.652A>T n.733A>T c.3868A>T (p.Asn1290Tyr) c.418A>T (p.Asn140Tyr) c.3769A>T (p.Asn1257Tyr) c.3865A>T (p.Asn1289Tyr) c.3715A>T (p.Asn1239Tyr) | |
| 5 | g.128335275T>C | CA360757536 | FBN2 | n.652A>G n.733A>G c.3868A>G (p.Asn1290Asp) c.418A>G (p.Asn140Asp) c.3769A>G (p.Asn1257Asp) c.3865A>G (p.Asn1289Asp) c.3715A>G (p.Asn1239Asp) | |
| 5 | g.128335275T>G | CA360757537 | FBN2 | n.652A>C n.733A>C c.3868A>C (p.Asn1290His) c.418A>C (p.Asn140His) c.3769A>C (p.Asn1257His) c.3865A>C (p.Asn1289His) c.3715A>C (p.Asn1239His) | |
| 5 | g.128335276G>A | CA446310094 | FBN2 | n.651C>T n.732C>T c.3867C>T (p.Asn1289=) c.417C>T (p.Asn139=) c.3768C>T (p.Asn1256=) c.3864C>T (p.Asn1288=) c.3714C>T (p.Asn1238=) | COSMIC COSMIC |
| 5 | g.128335276G>C | CA360757540 | FBN2 | n.651C>G n.732C>G c.3867C>G (p.Asn1289Lys) c.417C>G (p.Asn139Lys) c.3768C>G (p.Asn1256Lys) c.3864C>G (p.Asn1288Lys) c.3714C>G (p.Asn1238Lys) | |
| 5 | g.128335276G>T | CA360757542 | FBN2 | n.651C>A n.732C>A c.3867C>A (p.Asn1289Lys) c.417C>A (p.Asn139Lys) c.3768C>A (p.Asn1256Lys) c.3864C>A (p.Asn1288Lys) c.3714C>A (p.Asn1238Lys) | |
| 5 | g.128335277T>A | CA360757548 | FBN2 | n.650A>T n.731A>T c.3866A>T (p.Asn1289Ile) c.416A>T (p.Asn139Ile) c.3767A>T (p.Asn1256Ile) c.3863A>T (p.Asn1288Ile) c.3713A>T (p.Asn1238Ile) | |
| 5 | g.128335277T>C | CA360757546 | FBN2 | n.650A>G n.731A>G c.3866A>G (p.Asn1289Ser) c.416A>G (p.Asn139Ser) c.3767A>G (p.Asn1256Ser) c.3863A>G (p.Asn1288Ser) c.3713A>G (p.Asn1238Ser) | ClinVar dbSNP gnomAD v2 |
| 5 | g.128335277T>G | CA360757544 | FBN2 | n.650A>C n.731A>C c.3866A>C (p.Asn1289Thr) c.416A>C (p.Asn139Thr) c.3767A>C (p.Asn1256Thr) c.3863A>C (p.Asn1288Thr) c.3713A>C (p.Asn1238Thr) | |
| 5 | g.128335277T= | CA1581269514 | FBN2 | n.650A= n.731A= c.3866A= (p.Asn1289=) c.416A= (p.Asn139=) c.3767A= (p.Asn1256=) c.3863A= (p.Asn1288=) c.3713A= (p.Asn1238=) | |
| 5 | g.128335278T>A | CA360757549 | FBN2 | n.649A>T n.730A>T c.3865A>T (p.Asn1289Tyr) c.415A>T (p.Asn139Tyr) c.3766A>T (p.Asn1256Tyr) c.3862A>T (p.Asn1288Tyr) c.3712A>T (p.Asn1238Tyr) | |
| 5 | g.128335278T>C | CA360757553 | FBN2 | n.649A>G n.730A>G c.3865A>G (p.Asn1289Asp) c.415A>G (p.Asn139Asp) c.3766A>G (p.Asn1256Asp) c.3862A>G (p.Asn1288Asp) c.3712A>G (p.Asn1238Asp) | |
| 5 | g.128335278T>G | CA360757551 | FBN2 | n.649A>C n.730A>C c.3865A>C (p.Asn1289His) c.415A>C (p.Asn139His) c.3766A>C (p.Asn1256His) c.3862A>C (p.Asn1288His) c.3712A>C (p.Asn1238His) | |
| 5 | g.128335279T>A | CA360757555 | FBN2 | n.648A>T n.729A>T c.3864A>T (p.Glu1288Asp) c.414A>T (p.Glu138Asp) c.3765A>T (p.Glu1255Asp) c.3861A>T (p.Glu1287Asp) c.3711A>T (p.Glu1237Asp) | dbSNP |
| 5 | g.128335279T>C | CA446310095 | FBN2 | n.648A>G n.729A>G c.3864A>G (p.Glu1288=) c.414A>G (p.Glu138=) c.3765A>G (p.Glu1255=) c.3861A>G (p.Glu1287=) c.3711A>G (p.Glu1237=) | |
| 5 | g.128335279T>G | CA360757557 | FBN2 | n.648A>C n.729A>C c.3864A>C (p.Glu1288Asp) c.414A>C (p.Glu138Asp) c.3765A>C (p.Glu1255Asp) c.3861A>C (p.Glu1287Asp) c.3711A>C (p.Glu1237Asp) | |
| 5 | g.128335280T>A | CA360757840 | FBN2 | n.647A>T n.728A>T c.3863A>T (p.Glu1288Val) c.413A>T (p.Glu138Val) c.3764A>T (p.Glu1255Val) c.3860A>T (p.Glu1287Val) c.3710A>T (p.Glu1237Val) | |
| 5 | g.128335280T>C | CA360757841 | FBN2 | n.647A>G n.728A>G c.3863A>G (p.Glu1288Gly) c.413A>G (p.Glu138Gly) c.3764A>G (p.Glu1255Gly) c.3860A>G (p.Glu1287Gly) c.3710A>G (p.Glu1237Gly) | |
| 5 | g.128335280T>G | CA360757842 | FBN2 | n.647A>C n.728A>C c.3863A>C (p.Glu1288Ala) c.413A>C (p.Glu138Ala) c.3764A>C (p.Glu1255Ala) c.3860A>C (p.Glu1287Ala) c.3710A>C (p.Glu1237Ala) | |
| 5 | g.128335281C>A | CA360757843 | FBN2 | n.646G>T n.727G>T c.3862G>T (p.Glu1288Ter) c.412G>T (p.Glu138Ter) c.3763G>T (p.Glu1255Ter) c.3859G>T (p.Glu1287Ter) c.3709G>T (p.Glu1237Ter) | |
| 5 | g.128335281C= | CA1581269515 | FBN2 | n.646G= n.727G= c.3862G= (p.Glu1288=) c.412G= (p.Glu138=) c.3763G= (p.Glu1255=) c.3859G= (p.Glu1287=) c.3709G= (p.Glu1237=) | |
| 5 | g.128335281C>G | CA360757844 | FBN2 | n.646G>C n.727G>C c.3862G>C (p.Glu1288Gln) c.412G>C (p.Glu138Gln) c.3763G>C (p.Glu1255Gln) c.3859G>C (p.Glu1287Gln) c.3709G>C (p.Glu1237Gln) |