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.128335986A= | CA1581269817 | FBN2 | n.508+2T= n.589+2T= c.3724+2T= (n.3724+2T=) c.274+2T= (n.274+2T=) c.3625+2T= (n.3625+2T=) c.3721+2T= (n.3721+2T=) c.3571+2T= (n.3571+2T=) | |
| 5 | g.128335986A>C | CA360758177 | FBN2 | n.508+2T>G n.589+2T>G c.3724+2T>G (n.3724+2T>G) c.274+2T>G (n.274+2T>G) c.3625+2T>G (n.3625+2T>G) c.3721+2T>G (n.3721+2T>G) c.3571+2T>G (n.3571+2T>G) | ClinVar |
| 5 | g.128335986A>G | CA324547 | FBN2 | n.508+2T>C n.589+2T>C c.3724+2T>C (n.3724+2T>C) c.274+2T>C (n.274+2T>C) c.3625+2T>C (n.3625+2T>C) c.3721+2T>C (n.3721+2T>C) c.3571+2T>C (n.3571+2T>C) | ClinVar dbSNP |
| 5 | g.128335986A>T | CA360758176 | FBN2 | n.508+2T>A n.589+2T>A c.3724+2T>A (n.3724+2T>A) c.274+2T>A (n.274+2T>A) c.3625+2T>A (n.3625+2T>A) c.3721+2T>A (n.3721+2T>A) c.3571+2T>A (n.3571+2T>A) | |
| 5 | g.128335987C>A | CA360758178 | FBN2 | n.508+1G>T n.589+1G>T c.3724+1G>T (n.3724+1G>T) c.274+1G>T (n.274+1G>T) c.3625+1G>T (n.3625+1G>T) c.3721+1G>T (n.3721+1G>T) c.3571+1G>T (n.3571+1G>T) | COSMIC COSMIC |
| 5 | g.128335987C>G | CA360758179 | FBN2 | n.508+1G>C n.589+1G>C c.3724+1G>C (n.3724+1G>C) c.274+1G>C (n.274+1G>C) c.3625+1G>C (n.3625+1G>C) c.3721+1G>C (n.3721+1G>C) c.3571+1G>C (n.3571+1G>C) | |
| 5 | g.128335987C>T | CA360758180 | FBN2 | n.508+1G>A n.589+1G>A c.3724+1G>A (n.3724+1G>A) c.274+1G>A (n.274+1G>A) c.3625+1G>A (n.3625+1G>A) c.3721+1G>A (n.3721+1G>A) c.3571+1G>A (n.3571+1G>A) | ClinVar |
| 5 | g.128335988C>A | CA360758181 | FBN2 | n.508G>T n.589G>T c.3724G>T (p.Asp1242Tyr) c.274G>T (p.Asp92Tyr) c.3625G>T (p.Asp1209Tyr) c.3721G>T (p.Asp1241Tyr) c.3571G>T (p.Asp1191Tyr) | |
| 5 | g.128335988C>G | CA360758182 | FBN2 | n.508G>C n.589G>C c.3724G>C (p.Asp1242His) c.274G>C (p.Asp92His) c.3625G>C (p.Asp1209His) c.3721G>C (p.Asp1241His) c.3571G>C (p.Asp1191His) | COSMIC COSMIC |
| 5 | g.128335988C>T | CA360758183 | FBN2 | n.508G>A n.589G>A c.3724G>A (p.Asp1242Asn) c.274G>A (p.Asp92Asn) c.3625G>A (p.Asp1209Asn) c.3721G>A (p.Asp1241Asn) c.3571G>A (p.Asp1191Asn) | ClinVar |
| 5 | g.128335989T>A | CA446310358 | FBN2 | n.507A>T n.588A>T c.3723A>T (p.Thr1241=) c.273A>T (p.Thr91=) c.3624A>T (p.Thr1208=) c.3720A>T (p.Thr1240=) c.3570A>T (p.Thr1190=) | |
| 5 | g.128335989T>C | CA446310359 | FBN2 | n.507A>G n.588A>G c.3723A>G (p.Thr1241=) c.273A>G (p.Thr91=) c.3624A>G (p.Thr1208=) c.3720A>G (p.Thr1240=) c.3570A>G (p.Thr1190=) | |
| 5 | g.128335989T>G | CA446310360 | FBN2 | n.507A>C n.588A>C c.3723A>C (p.Thr1241=) c.273A>C (p.Thr91=) c.3624A>C (p.Thr1208=) c.3720A>C (p.Thr1240=) c.3570A>C (p.Thr1190=) | |
| 5 | g.128335990G>A | CA360758184 | FBN2 | n.506C>T n.587C>T c.3722C>T (p.Thr1241Ile) c.272C>T (p.Thr91Ile) c.3623C>T (p.Thr1208Ile) c.3719C>T (p.Thr1240Ile) c.3569C>T (p.Thr1190Ile) | ClinVar dbSNP |
| 5 | g.128335990G>C | CA360758186 | FBN2 | n.506C>G n.587C>G c.3722C>G (p.Thr1241Arg) c.272C>G (p.Thr91Arg) c.3623C>G (p.Thr1208Arg) c.3719C>G (p.Thr1240Arg) c.3569C>G (p.Thr1190Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128335990G= | CA1581269818 | FBN2 | n.506C= n.587C= c.3722C= (p.Thr1241=) c.272C= (p.Thr91=) c.3623C= (p.Thr1208=) c.3719C= (p.Thr1240=) c.3569C= (p.Thr1190=) | |
| 5 | g.128335990G>T | CA360758185 | FBN2 | n.506C>A n.587C>A c.3722C>A (p.Thr1241Lys) c.272C>A (p.Thr91Lys) c.3623C>A (p.Thr1208Lys) c.3719C>A (p.Thr1240Lys) c.3569C>A (p.Thr1190Lys) | |
| 5 | g.128335991T>A | CA360758187 | FBN2 | n.505A>T n.586A>T c.3721A>T (p.Thr1241Ser) c.271A>T (p.Thr91Ser) c.3622A>T (p.Thr1208Ser) c.3718A>T (p.Thr1240Ser) c.3568A>T (p.Thr1190Ser) | |
| 5 | g.128335991T>C | CA3395163 | FBN2 | n.505A>G n.586A>G c.3721A>G (p.Thr1241Ala) c.271A>G (p.Thr91Ala) c.3622A>G (p.Thr1208Ala) c.3718A>G (p.Thr1240Ala) c.3568A>G (p.Thr1190Ala) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128335991T>G | CA360758188 | FBN2 | n.505A>C n.586A>C c.3721A>C (p.Thr1241Pro) c.271A>C (p.Thr91Pro) c.3622A>C (p.Thr1208Pro) c.3718A>C (p.Thr1240Pro) c.3568A>C (p.Thr1190Pro) | |
| 5 | g.128335991T= | CA1581269819 | FBN2 | n.505A= n.586A= c.3721A= (p.Thr1241=) c.271A= (p.Thr91=) c.3622A= (p.Thr1208=) c.3718A= (p.Thr1240=) c.3568A= (p.Thr1190=) | |
| 5 | g.128335992A>C | CA360758189 | FBN2 | n.504T>G n.585T>G c.3720T>G (p.Cys1240Trp) c.270T>G (p.Cys90Trp) c.3621T>G (p.Cys1207Trp) c.3717T>G (p.Cys1239Trp) c.3567T>G (p.Cys1189Trp) | |
| 5 | g.128335992A>G | CA446310364 | FBN2 | n.504T>C n.585T>C c.3720T>C (p.Cys1240=) c.270T>C (p.Cys90=) c.3621T>C (p.Cys1207=) c.3717T>C (p.Cys1239=) c.3567T>C (p.Cys1189=) | |
| 5 | g.128335992A>T | CA360758190 | FBN2 | n.504T>A n.585T>A c.3720T>A (p.Cys1240Ter) c.270T>A (p.Cys90Ter) c.3621T>A (p.Cys1207Ter) c.3717T>A (p.Cys1239Ter) c.3567T>A (p.Cys1189Ter) | |
| 5 | g.128335992_128335993delinsGA | CA2695205121 | FBN2 | n.503_504delinsTC n.584_585delinsTC c.3719_3720delinsTC (p.Cys1240Phe) c.269_270delinsTC (p.Cys90Phe) c.3620_3621delinsTC (p.Cys1207Phe) c.3716_3717delinsTC (p.Cys1239Phe) c.3566_3567delinsTC (p.Cys1189Phe) | |
| 5 | g.128335993C>A | CA360758192 | FBN2 | n.503G>T n.584G>T c.3719G>T (p.Cys1240Phe) c.269G>T (p.Cys90Phe) c.3620G>T (p.Cys1207Phe) c.3716G>T (p.Cys1239Phe) c.3566G>T (p.Cys1189Phe) | |
| 5 | g.128335993C= | CA1581269820 | FBN2 | n.503G= n.584G= c.3719G= (p.Cys1240=) c.269G= (p.Cys90=) c.3620G= (p.Cys1207=) c.3716G= (p.Cys1239=) c.3566G= (p.Cys1189=) | |
| 5 | g.128335993C>G | CA360758193 | FBN2 | n.503G>C n.584G>C c.3719G>C (p.Cys1240Ser) c.269G>C (p.Cys90Ser) c.3620G>C (p.Cys1207Ser) c.3716G>C (p.Cys1239Ser) c.3566G>C (p.Cys1189Ser) | |
| 5 | g.128335993C>T | CA360758191 | FBN2 | n.503G>A n.584G>A c.3719G>A (p.Cys1240Tyr) c.269G>A (p.Cys90Tyr) c.3620G>A (p.Cys1207Tyr) c.3716G>A (p.Cys1239Tyr) c.3566G>A (p.Cys1189Tyr) | ClinVar dbSNP |
| 5 | g.128335994A= | CA1581269821 | FBN2 | n.502T= n.583T= c.3718T= (p.Cys1240=) c.268T= (p.Cys90=) c.3619T= (p.Cys1207=) c.3715T= (p.Cys1239=) c.3565T= (p.Cys1189=) | |
| 5 | g.128335994A>C | CA360758196 | FBN2 | n.502T>G n.583T>G c.3718T>G (p.Cys1240Gly) c.268T>G (p.Cys90Gly) c.3619T>G (p.Cys1207Gly) c.3715T>G (p.Cys1239Gly) c.3565T>G (p.Cys1189Gly) | ClinVar dbSNP |
| 5 | g.128335994A>G | CA360758194 | FBN2 | n.502T>C n.583T>C c.3718T>C (p.Cys1240Arg) c.268T>C (p.Cys90Arg) c.3619T>C (p.Cys1207Arg) c.3715T>C (p.Cys1239Arg) c.3565T>C (p.Cys1189Arg) | |
| 5 | g.128335994A>T | CA360758195 | FBN2 | n.502T>A n.583T>A c.3718T>A (p.Cys1240Ser) c.268T>A (p.Cys90Ser) c.3619T>A (p.Cys1207Ser) c.3715T>A (p.Cys1239Ser) c.3565T>A (p.Cys1189Ser) | |
| 5 | g.128335995G>A | CA446310368 | FBN2 | n.501C>T n.582C>T c.3717C>T (p.Gly1239=) c.267C>T (p.Gly89=) c.3618C>T (p.Gly1206=) c.3714C>T (p.Gly1238=) c.3564C>T (p.Gly1188=) | dbSNP COSMIC |
| 5 | g.128335995G>C | CA446310370 | FBN2 | n.501C>G n.582C>G c.3717C>G (p.Gly1239=) c.267C>G (p.Gly89=) c.3618C>G (p.Gly1206=) c.3714C>G (p.Gly1238=) c.3564C>G (p.Gly1188=) | |
| 5 | g.128335995G>T | CA446310369 | FBN2 | n.501C>A n.582C>A c.3717C>A (p.Gly1239=) c.267C>A (p.Gly89=) c.3618C>A (p.Gly1206=) c.3714C>A (p.Gly1238=) c.3564C>A (p.Gly1188=) | |
| 5 | g.128335996C>A | CA360758197 | FBN2 | n.500G>T n.581G>T c.3716G>T (p.Gly1239Val) c.266G>T (p.Gly89Val) c.3617G>T (p.Gly1206Val) c.3713G>T (p.Gly1238Val) c.3563G>T (p.Gly1188Val) | |
| 5 | g.128335996C>G | CA360758198 | FBN2 | n.500G>C n.581G>C c.3716G>C (p.Gly1239Ala) c.266G>C (p.Gly89Ala) c.3617G>C (p.Gly1206Ala) c.3713G>C (p.Gly1238Ala) c.3563G>C (p.Gly1188Ala) | |
| 5 | g.128335996C>T | CA360758199 | FBN2 | n.500G>A n.581G>A c.3716G>A (p.Gly1239Asp) c.266G>A (p.Gly89Asp) c.3617G>A (p.Gly1206Asp) c.3713G>A (p.Gly1238Asp) c.3563G>A (p.Gly1188Asp) | gnomAD v4 |
| 5 | g.128335997C>A | CA360758200 | FBN2 | n.499G>T n.580G>T c.3715G>T (p.Gly1239Cys) c.265G>T (p.Gly89Cys) c.3616G>T (p.Gly1206Cys) c.3712G>T (p.Gly1238Cys) c.3562G>T (p.Gly1188Cys) | dbSNP |
| 5 | g.128335997C= | CA1581269822 | FBN2 | n.499G= n.580G= c.3715G= (p.Gly1239=) c.265G= (p.Gly89=) c.3616G= (p.Gly1206=) c.3712G= (p.Gly1238=) c.3562G= (p.Gly1188=) | |
| 5 | g.128335997C>G | CA3395164 | FBN2 | n.499G>C n.580G>C c.3715G>C (p.Gly1239Arg) c.265G>C (p.Gly89Arg) c.3616G>C (p.Gly1206Arg) c.3712G>C (p.Gly1238Arg) c.3562G>C (p.Gly1188Arg) | dbSNP ExAC |
| 5 | g.128335997C>T | CA16611786 | FBN2 | n.499G>A n.580G>A c.3715G>A (p.Gly1239Ser) c.265G>A (p.Gly89Ser) c.3616G>A (p.Gly1206Ser) c.3712G>A (p.Gly1238Ser) c.3562G>A (p.Gly1188Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 5 | g.128335998C>A | CA360758201 | FBN2 | n.498G>T n.579G>T c.3714G>T (p.Gln1238His) c.264G>T (p.Gln88His) c.3615G>T (p.Gln1205His) c.3711G>T (p.Gln1237His) c.3561G>T (p.Gln1187His) | |
| 5 | g.128335998C= | CA1581269823 | FBN2 | n.498G= n.579G= c.3714G= (p.Gln1238=) c.264G= (p.Gln88=) c.3615G= (p.Gln1205=) c.3711G= (p.Gln1237=) c.3561G= (p.Gln1187=) | |
| 5 | g.128335998C>G | CA360758202 | FBN2 | n.498G>C n.579G>C c.3714G>C (p.Gln1238His) c.264G>C (p.Gln88His) c.3615G>C (p.Gln1205His) c.3711G>C (p.Gln1237His) c.3561G>C (p.Gln1187His) | |
| 5 | g.128335998C>T | CA3395165 | FBN2 | n.498G>A n.579G>A c.3714G>A (p.Gln1238=) c.264G>A (p.Gln88=) c.3615G>A (p.Gln1205=) c.3711G>A (p.Gln1237=) c.3561G>A (p.Gln1187=) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 5 | g.128335999T>A | CA360758203 | FBN2 | n.497A>T n.578A>T c.3713A>T (p.Gln1238Leu) c.263A>T (p.Gln88Leu) c.3614A>T (p.Gln1205Leu) c.3710A>T (p.Gln1237Leu) c.3560A>T (p.Gln1187Leu) | ClinVar |
| 5 | g.128335999T>C | CA360758204 | FBN2 | n.497A>G n.578A>G c.3713A>G (p.Gln1238Arg) c.263A>G (p.Gln88Arg) c.3614A>G (p.Gln1205Arg) c.3710A>G (p.Gln1237Arg) c.3560A>G (p.Gln1187Arg) | |
| 5 | g.128335999T>G | CA360758205 | FBN2 | n.497A>C n.578A>C c.3713A>C (p.Gln1238Pro) c.263A>C (p.Gln88Pro) c.3614A>C (p.Gln1205Pro) c.3710A>C (p.Gln1237Pro) c.3560A>C (p.Gln1187Pro) |