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.128395190C>A | CA360750682 | FBN2 | n.870G>T c.1163G>T (p.Cys388Phe) c.1064G>T (p.Cys355Phe) c.1160G>T (p.Cys387Phe) c.1079-1822G>T (n.1079-1822G>T) | |
| 5 | g.128395190C>G | CA360750689 | FBN2 | n.870G>C c.1163G>C (p.Cys388Ser) c.1064G>C (p.Cys355Ser) c.1160G>C (p.Cys387Ser) c.1079-1822G>C (n.1079-1822G>C) | |
| 5 | g.128395190C>T | CA360750691 | FBN2 | n.870G>A c.1163G>A (p.Cys388Tyr) c.1064G>A (p.Cys355Tyr) c.1160G>A (p.Cys387Tyr) c.1079-1822G>A (n.1079-1822G>A) | |
| 5 | g.128395191A>C | CA360750697 | FBN2 | n.869T>G c.1162T>G (p.Cys388Gly) c.1063T>G (p.Cys355Gly) c.1159T>G (p.Cys387Gly) c.1079-1823T>G (n.1079-1823T>G) | |
| 5 | g.128395191A>G | CA360750702 | FBN2 | n.869T>C c.1162T>C (p.Cys388Arg) c.1063T>C (p.Cys355Arg) c.1159T>C (p.Cys387Arg) c.1079-1823T>C (n.1079-1823T>C) | |
| 5 | g.128395191A>T | CA360750706 | FBN2 | n.869T>A c.1162T>A (p.Cys388Ser) c.1063T>A (p.Cys355Ser) c.1159T>A (p.Cys387Ser) c.1079-1823T>A (n.1079-1823T>A) | |
| 5 | g.128395192C>A | CA360750708 | FBN2 | n.868G>T c.1161G>T (p.Gln387His) c.1062G>T (p.Gln354His) c.1158G>T (p.Gln386His) c.1079-1824G>T (n.1079-1824G>T) | COSMIC COSMIC |
| 5 | g.128395192C= | CA1581295503 | FBN2 | n.868G= c.1161G= (p.Gln387=) c.1062G= (p.Gln354=) c.1158G= (p.Gln386=) c.1079-1824G= (n.1079-1824G=) | |
| 5 | g.128395192C>G | CA360750710 | FBN2 | n.868G>C c.1161G>C (p.Gln387His) c.1062G>C (p.Gln354His) c.1158G>C (p.Gln386His) c.1079-1824G>C (n.1079-1824G>C) | |
| 5 | g.128395192C>T | CA446306125 | FBN2 | n.868G>A c.1161G>A (p.Gln387=) c.1062G>A (p.Gln354=) c.1158G>A (p.Gln386=) c.1079-1824G>A (n.1079-1824G>A) | dbSNP |
| 5 | g.128395193T>A | CA360750718 | FBN2 | n.867A>T c.1160A>T (p.Gln387Leu) c.1061A>T (p.Gln354Leu) c.1157A>T (p.Gln386Leu) c.1079-1825A>T (n.1079-1825A>T) | |
| 5 | g.128395193T>C | CA3395868 | FBN2 | n.867A>G c.1160A>G (p.Gln387Arg) c.1061A>G (p.Gln354Arg) c.1157A>G (p.Gln386Arg) c.1079-1825A>G (n.1079-1825A>G) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128395193T>G | CA360750715 | FBN2 | n.867A>C c.1160A>C (p.Gln387Pro) c.1061A>C (p.Gln354Pro) c.1157A>C (p.Gln386Pro) c.1079-1825A>C (n.1079-1825A>C) | dbSNP |
| 5 | g.128395193T= | CA1581295508 | FBN2 | n.867A= c.1160A= (p.Gln387=) c.1061A= (p.Gln354=) c.1157A= (p.Gln386=) c.1079-1825A= (n.1079-1825A=) | |
| 5 | g.128395194G>A | CA360750720 | FBN2 | n.866C>T c.1159C>T (p.Gln387Ter) c.1060C>T (p.Gln354Ter) c.1156C>T (p.Gln386Ter) c.1079-1826C>T (n.1079-1826C>T) | |
| 5 | g.128395194G>C | CA360750722 | FBN2 | n.866C>G c.1159C>G (p.Gln387Glu) c.1060C>G (p.Gln354Glu) c.1156C>G (p.Gln386Glu) c.1079-1826C>G (n.1079-1826C>G) | |
| 5 | g.128395194G>T | CA360750725 | FBN2 | n.866C>A c.1159C>A (p.Gln387Lys) c.1060C>A (p.Gln354Lys) c.1156C>A (p.Gln386Lys) c.1079-1826C>A (n.1079-1826C>A) | |
| 5 | g.128395195C>A | CA360750729 | FBN2 | n.865G>T c.1158G>T (p.Met386Ile) c.1059G>T (p.Met353Ile) c.1155G>T (p.Met385Ile) c.1079-1827G>T (n.1079-1827G>T) | |
| 5 | g.128395195C>G | CA360750736 | FBN2 | n.865G>C c.1158G>C (p.Met386Ile) c.1059G>C (p.Met353Ile) c.1155G>C (p.Met385Ile) c.1079-1827G>C (n.1079-1827G>C) | |
| 5 | g.128395195C>T | CA360750739 | FBN2 | n.865G>A c.1158G>A (p.Met386Ile) c.1059G>A (p.Met353Ile) c.1155G>A (p.Met385Ile) c.1079-1827G>A (n.1079-1827G>A) | |
| 5 | g.128395196A= | CA1581295513 | FBN2 | n.864T= c.1157T= (p.Met386=) c.1058T= (p.Met353=) c.1154T= (p.Met385=) c.1079-1828T= (n.1079-1828T=) | |
| 5 | g.128395196A>C | CA360750746 | FBN2 | n.864T>G c.1157T>G (p.Met386Arg) c.1058T>G (p.Met353Arg) c.1154T>G (p.Met385Arg) c.1079-1828T>G (n.1079-1828T>G) | |
| 5 | g.128395196A>G | CA3395869 | FBN2 | n.864T>C c.1157T>C (p.Met386Thr) c.1058T>C (p.Met353Thr) c.1154T>C (p.Met385Thr) c.1079-1828T>C (n.1079-1828T>C) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128395196A>T | CA360750747 | FBN2 | n.864T>A c.1157T>A (p.Met386Lys) c.1058T>A (p.Met353Lys) c.1154T>A (p.Met385Lys) c.1079-1828T>A (n.1079-1828T>A) | |
| 5 | g.128395197T>A | CA360750749 | FBN2 | n.863A>T c.1156A>T (p.Met386Leu) c.1057A>T (p.Met353Leu) c.1153A>T (p.Met385Leu) c.1079-1829A>T (n.1079-1829A>T) | |
| 5 | g.128395197T>C | CA360750752 | FBN2 | n.863A>G c.1156A>G (p.Met386Val) c.1057A>G (p.Met353Val) c.1153A>G (p.Met385Val) c.1079-1829A>G (n.1079-1829A>G) | ClinVar gnomAD v4 |
| 5 | g.128395197T>G | CA360750755 | FBN2 | n.863A>C c.1156A>C (p.Met386Leu) c.1057A>C (p.Met353Leu) c.1153A>C (p.Met385Leu) c.1079-1829A>C (n.1079-1829A>C) | |
| 5 | g.128395198T>A | CA360750756 | FBN2 | n.862A>T c.1155A>T (p.Lys385Asn) c.1056A>T (p.Lys352Asn) c.1152A>T (p.Lys384Asn) c.1079-1830A>T (n.1079-1830A>T) | |
| 5 | g.128395198T>C | CA446306128 | FBN2 | n.862A>G c.1155A>G (p.Lys385=) c.1056A>G (p.Lys352=) c.1152A>G (p.Lys384=) c.1079-1830A>G (n.1079-1830A>G) | |
| 5 | g.128395198T>G | CA360750758 | FBN2 | n.862A>C c.1155A>C (p.Lys385Asn) c.1056A>C (p.Lys352Asn) c.1152A>C (p.Lys384Asn) c.1079-1830A>C (n.1079-1830A>C) | |
| 5 | g.128395199T>A | CA360750761 | FBN2 | n.861A>T c.1154A>T (p.Lys385Ile) c.1055A>T (p.Lys352Ile) c.1151A>T (p.Lys384Ile) c.1079-1831A>T (n.1079-1831A>T) | |
| 5 | g.128395199T>C | CA360750766 | FBN2 | n.861A>G c.1154A>G (p.Lys385Arg) c.1055A>G (p.Lys352Arg) c.1151A>G (p.Lys384Arg) c.1079-1831A>G (n.1079-1831A>G) | |
| 5 | g.128395199T>G | CA360750764 | FBN2 | n.861A>C c.1154A>C (p.Lys385Thr) c.1055A>C (p.Lys352Thr) c.1151A>C (p.Lys384Thr) c.1079-1831A>C (n.1079-1831A>C) | COSMIC COSMIC |
| 5 | g.128395200T>A | CA360750775 | FBN2 | n.860A>T c.1153A>T (p.Lys385Ter) c.1054A>T (p.Lys352Ter) c.1150A>T (p.Lys384Ter) c.1079-1832A>T (n.1079-1832A>T) | |
| 5 | g.128395200T>C | CA360750780 | FBN2 | n.860A>G c.1153A>G (p.Lys385Glu) c.1054A>G (p.Lys352Glu) c.1150A>G (p.Lys384Glu) c.1079-1832A>G (n.1079-1832A>G) | |
| 5 | g.128395200T>G | CA360750777 | FBN2 | n.860A>C c.1153A>C (p.Lys385Gln) c.1054A>C (p.Lys352Gln) c.1150A>C (p.Lys384Gln) c.1079-1832A>C (n.1079-1832A>C) | |
| 5 | g.128395201C>A | CA446306132 | FBN2 | n.859G>T c.1152G>T (p.Thr384=) c.1053G>T (p.Thr351=) c.1149G>T (p.Thr383=) c.1079-1833G>T (n.1079-1833G>T) | |
| 5 | g.128395201C= | CA1581295522 | FBN2 | n.859G= c.1152G= (p.Thr384=) c.1053G= (p.Thr351=) c.1149G= (p.Thr383=) c.1079-1833G= (n.1079-1833G=) | |
| 5 | g.128395201C>G | CA446306133 | FBN2 | n.859G>C c.1152G>C (p.Thr384=) c.1053G>C (p.Thr351=) c.1149G>C (p.Thr383=) c.1079-1833G>C (n.1079-1833G>C) | gnomAD v4 |
| 5 | g.128395201C>T | CA127035190 | FBN2 | n.859G>A c.1152G>A (p.Thr384=) c.1053G>A (p.Thr351=) c.1149G>A (p.Thr383=) c.1079-1833G>A (n.1079-1833G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 5 | g.128395202G>A | CA3395870 | FBN2 | n.858C>T c.1151C>T (p.Thr384Met) c.1052C>T (p.Thr351Met) c.1148C>T (p.Thr383Met) c.1079-1834C>T (n.1079-1834C>T) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 5 | g.128395202G>C | CA360750786 | FBN2 | n.858C>G c.1151C>G (p.Thr384Arg) c.1052C>G (p.Thr351Arg) c.1148C>G (p.Thr383Arg) c.1079-1834C>G (n.1079-1834C>G) | gnomAD v4 |
| 5 | g.128395202G= | CA1581295529 | FBN2 | n.858C= c.1151C= (p.Thr384=) c.1052C= (p.Thr351=) c.1148C= (p.Thr383=) c.1079-1834C= (n.1079-1834C=) | |
| 5 | g.128395202G>T | CA360750788 | FBN2 | n.858C>A c.1151C>A (p.Thr384Lys) c.1052C>A (p.Thr351Lys) c.1148C>A (p.Thr383Lys) c.1079-1834C>A (n.1079-1834C>A) | |
| 5 | g.128395203T>A | CA360750794 | FBN2 | n.857A>T c.1150A>T (p.Thr384Ser) c.1051A>T (p.Thr351Ser) c.1147A>T (p.Thr383Ser) c.1079-1835A>T (n.1079-1835A>T) | |
| 5 | g.128395203T>C | CA360750798 | FBN2 | n.857A>G c.1150A>G (p.Thr384Ala) c.1051A>G (p.Thr351Ala) c.1147A>G (p.Thr383Ala) c.1079-1835A>G (n.1079-1835A>G) | dbSNP gnomAD v3 gnomAD v4 |
| 5 | g.128395203T>G | CA360750799 | FBN2 | n.857A>C c.1150A>C (p.Thr384Pro) c.1051A>C (p.Thr351Pro) c.1147A>C (p.Thr383Pro) c.1079-1835A>C (n.1079-1835A>C) | |
| 5 | g.128395203T= | CA1581295534 | FBN2 | n.857A= c.1150A= (p.Thr384=) c.1051A= (p.Thr351=) c.1147A= (p.Thr383=) c.1079-1835A= (n.1079-1835A=) | |
| 5 | g.128395204C>A | CA360750806 | FBN2 | n.856G>T c.1149G>T (p.Met383Ile) c.1050G>T (p.Met350Ile) c.1146G>T (p.Met382Ile) c.1079-1836G>T (n.1079-1836G>T) | |
| 5 | g.128395204C>G | CA360750807 | FBN2 | n.856G>C c.1149G>C (p.Met383Ile) c.1050G>C (p.Met350Ile) c.1146G>C (p.Met382Ile) c.1079-1836G>C (n.1079-1836G>C) |