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 |
|---|---|---|---|---|---|
| 16 | g.50712100C>A | CA395871265 | NOD2 | c.2108C>A (p.Ala703Asp) c.2189C>A (p.Ala730Asp) c.1685C>A (p.Ala562Asp) c.1523C>A (p.Ala508Asp) n.2198C>A c.1616C>A (p.Ala539Asp) n.2151C>A n.2173C>A | |
| 16 | g.50712100C= | CA2221862639 | NOD2 | c.2108C= (p.Ala703=) c.2189C= (p.Ala730=) c.1685C= (p.Ala562=) c.1523C= (p.Ala508=) n.2198C= c.1616C= (p.Ala539=) n.2151C= n.2173C= | |
| 16 | g.50712100C>G | CA395871267 | NOD2 | c.2108C>G (p.Ala703Gly) c.2189C>G (p.Ala730Gly) c.1685C>G (p.Ala562Gly) c.1523C>G (p.Ala508Gly) n.2198C>G c.1616C>G (p.Ala539Gly) n.2151C>G n.2173C>G | |
| 16 | g.50712100C>T | CA8051717 | NOD2 | c.2108C>T (p.Ala703Val) c.2189C>T (p.Ala730Val) c.1685C>T (p.Ala562Val) c.1523C>T (p.Ala508Val) n.2198C>T c.1616C>T (p.Ala539Val) n.2151C>T n.2173C>T | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712101C>A | CA495779016 | NOD2 | c.2109C>A (p.Ala703=) c.2190C>A (p.Ala730=) c.1686C>A (p.Ala562=) c.1524C>A (p.Ala508=) n.2199C>A c.1617C>A (p.Ala539=) n.2152C>A n.2174C>A | |
| 16 | g.50712101C>G | CA495779017 | NOD2 | c.2109C>G (p.Ala703=) c.2190C>G (p.Ala730=) c.1686C>G (p.Ala562=) c.1524C>G (p.Ala508=) n.2199C>G c.1617C>G (p.Ala539=) n.2152C>G n.2174C>G | |
| 16 | g.50712101C>T | CA495779018 | NOD2 | c.2109C>T (p.Ala703=) c.2190C>T (p.Ala730=) c.1686C>T (p.Ala562=) c.1524C>T (p.Ala508=) n.2199C>T c.1617C>T (p.Ala539=) n.2152C>T n.2174C>T | |
| 16 | g.50712102A>C | CA395871272 | NOD2 | c.2110A>C (p.Lys704Gln) c.2191A>C (p.Lys731Gln) c.1687A>C (p.Lys563Gln) c.1525A>C (p.Lys509Gln) n.2200A>C c.1618A>C (p.Lys540Gln) n.2153A>C n.2175A>C | |
| 16 | g.50712102A>G | CA395871274 | NOD2 | c.2110A>G (p.Lys704Glu) c.2191A>G (p.Lys731Glu) c.1687A>G (p.Lys563Glu) c.1525A>G (p.Lys509Glu) n.2200A>G c.1618A>G (p.Lys540Glu) n.2153A>G n.2175A>G | |
| 16 | g.50712102A>T | CA395871270 | NOD2 | c.2110A>T (p.Lys704Ter) c.2191A>T (p.Lys731Ter) c.1687A>T (p.Lys563Ter) c.1525A>T (p.Lys509Ter) n.2200A>T c.1618A>T (p.Lys540Ter) n.2153A>T n.2175A>T | |
| 16 | g.50712103A>C | CA395871276 | NOD2 | c.2111A>C (p.Lys704Thr) c.2192A>C (p.Lys731Thr) c.1688A>C (p.Lys563Thr) c.1526A>C (p.Lys509Thr) n.2201A>C c.1619A>C (p.Lys540Thr) n.2154A>C n.2176A>C | |
| 16 | g.50712103A>G | CA395871278 | NOD2 | c.2111A>G (p.Lys704Arg) c.2192A>G (p.Lys731Arg) c.1688A>G (p.Lys563Arg) c.1526A>G (p.Lys509Arg) n.2201A>G c.1619A>G (p.Lys540Arg) n.2154A>G n.2176A>G | COSMIC |
| 16 | g.50712103A>T | CA395871280 | NOD2 | c.2111A>T (p.Lys704Met) c.2192A>T (p.Lys731Met) c.1688A>T (p.Lys563Met) c.1526A>T (p.Lys509Met) n.2201A>T c.1619A>T (p.Lys540Met) n.2154A>T n.2176A>T | |
| 16 | g.50712104G>A | CA495779019 | NOD2 | c.2112G>A (p.Lys704=) c.2193G>A (p.Lys731=) c.1689G>A (p.Lys563=) c.1527G>A (p.Lys509=) n.2202G>A c.1620G>A (p.Lys540=) n.2155G>A n.2177G>A | ClinVar dbSNP |
| 16 | g.50712104G>C | CA395871283 | NOD2 | c.2112G>C (p.Lys704Asn) c.2193G>C (p.Lys731Asn) c.1689G>C (p.Lys563Asn) c.1527G>C (p.Lys509Asn) n.2202G>C c.1620G>C (p.Lys540Asn) n.2155G>C n.2177G>C | |
| 16 | g.50712104G>T | CA395871284 | NOD2 | c.2112G>T (p.Lys704Asn) c.2193G>T (p.Lys731Asn) c.1689G>T (p.Lys563Asn) c.1527G>T (p.Lys509Asn) n.2202G>T c.1620G>T (p.Lys540Asn) n.2155G>T n.2177G>T | |
| 16 | g.50712105A>C | CA395871290 | NOD2 | c.2113A>C (p.Ser705Arg) c.2194A>C (p.Ser732Arg) c.1690A>C (p.Ser564Arg) c.1528A>C (p.Ser510Arg) n.2203A>C c.1621A>C (p.Ser541Arg) n.2156A>C n.2178A>C | |
| 16 | g.50712105A>G | CA395871288 | NOD2 | c.2113A>G (p.Ser705Gly) c.2194A>G (p.Ser732Gly) c.1690A>G (p.Ser564Gly) c.1528A>G (p.Ser510Gly) n.2203A>G c.1621A>G (p.Ser541Gly) n.2156A>G n.2178A>G | gnomAD v4 |
| 16 | g.50712105A>T | CA395871286 | NOD2 | c.2113A>T (p.Ser705Cys) c.2194A>T (p.Ser732Cys) c.1690A>T (p.Ser564Cys) c.1528A>T (p.Ser510Cys) n.2203A>T c.1621A>T (p.Ser541Cys) n.2156A>T n.2178A>T | |
| 16 | g.50712106G>A | CA8051718 | NOD2 | c.2114G>A (p.Ser705Asn) c.2195G>A (p.Ser732Asn) c.1691G>A (p.Ser564Asn) c.1529G>A (p.Ser510Asn) n.2204G>A c.1622G>A (p.Ser541Asn) n.2157G>A n.2179G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712106G>C | CA395871293 | NOD2 | c.2114G>C (p.Ser705Thr) c.2195G>C (p.Ser732Thr) c.1691G>C (p.Ser564Thr) c.1529G>C (p.Ser510Thr) n.2204G>C c.1622G>C (p.Ser541Thr) n.2157G>C n.2179G>C | gnomAD v4 |
| 16 | g.50712106G= | CA2221862642 | NOD2 | c.2114G= (p.Ser705=) c.2195G= (p.Ser732=) c.1691G= (p.Ser564=) c.1529G= (p.Ser510=) n.2204G= c.1622G= (p.Ser541=) n.2157G= n.2179G= | |
| 16 | g.50712106G>T | CA395871295 | NOD2 | c.2114G>T (p.Ser705Ile) c.2195G>T (p.Ser732Ile) c.1691G>T (p.Ser564Ile) c.1529G>T (p.Ser510Ile) n.2204G>T c.1622G>T (p.Ser541Ile) n.2157G>T n.2179G>T | |
| 16 | g.50712107C>A | CA281264025 | NOD2 | c.2115C>A (p.Ser705Arg) c.2196C>A (p.Ser732Arg) c.1692C>A (p.Ser564Arg) c.1530C>A (p.Ser510Arg) n.2205C>A c.1623C>A (p.Ser541Arg) n.2158C>A n.2180C>A | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.50712107C= | CA2221862646 | NOD2 | c.2115C= (p.Ser705=) c.2196C= (p.Ser732=) c.1692C= (p.Ser564=) c.1530C= (p.Ser510=) n.2205C= c.1623C= (p.Ser541=) n.2158C= n.2180C= | |
| 16 | g.50712107C>G | CA395871298 | NOD2 | c.2115C>G (p.Ser705Arg) c.2196C>G (p.Ser732Arg) c.1692C>G (p.Ser564Arg) c.1530C>G (p.Ser510Arg) n.2205C>G c.1623C>G (p.Ser541Arg) n.2158C>G n.2180C>G | |
| 16 | g.50712107C>T | CA8051719 | NOD2 | c.2115C>T (p.Ser705=) c.2196C>T (p.Ser732=) c.1692C>T (p.Ser564=) c.1530C>T (p.Ser510=) n.2205C>T c.1623C>T (p.Ser541=) n.2158C>T n.2180C>T | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712108G>A | CA8051720 | NOD2 | c.2116G>A (p.Val706Met) c.2197G>A (p.Val733Met) c.1693G>A (p.Val565Met) c.1531G>A (p.Val511Met) n.2206G>A c.1624G>A (p.Val542Met) n.2159G>A n.2181G>A | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.50712108G>C | CA395871303 | NOD2 | c.2116G>C (p.Val706Leu) c.2197G>C (p.Val733Leu) c.1693G>C (p.Val565Leu) c.1531G>C (p.Val511Leu) n.2206G>C c.1624G>C (p.Val542Leu) n.2159G>C n.2181G>C | |
| 16 | g.50712108G= | CA2221862651 | NOD2 | c.2116G= (p.Val706=) c.2197G= (p.Val733=) c.1693G= (p.Val565=) c.1531G= (p.Val511=) n.2206G= c.1624G= (p.Val542=) n.2159G= n.2181G= | |
| 16 | g.50712108G>T | CA10590111 | NOD2 | c.2116G>T (p.Val706Leu) c.2197G>T (p.Val733Leu) c.1693G>T (p.Val565Leu) c.1531G>T (p.Val511Leu) n.2206G>T c.1624G>T (p.Val542Leu) n.2159G>T n.2181G>T | ClinVar dbSNP |
| 16 | g.50712109T>A | CA395871304 | NOD2 | c.2117T>A (p.Val706Glu) c.2198T>A (p.Val733Glu) c.1694T>A (p.Val565Glu) c.1532T>A (p.Val511Glu) n.2207T>A c.1625T>A (p.Val542Glu) n.2160T>A n.2182T>A | |
| 16 | g.50712109T>C | CA395871305 | NOD2 | c.2117T>C (p.Val706Ala) c.2198T>C (p.Val733Ala) c.1694T>C (p.Val565Ala) c.1532T>C (p.Val511Ala) n.2207T>C c.1625T>C (p.Val542Ala) n.2160T>C n.2182T>C | gnomAD v4 |
| 16 | g.50712109T>G | CA395871307 | NOD2 | c.2117T>G (p.Val706Gly) c.2198T>G (p.Val733Gly) c.1694T>G (p.Val565Gly) c.1532T>G (p.Val511Gly) n.2207T>G c.1625T>G (p.Val542Gly) n.2160T>G n.2182T>G | |
| 16 | g.50712110G>A | CA495779022 | NOD2 | c.2118G>A (p.Val706=) c.2199G>A (p.Val733=) c.1695G>A (p.Val565=) c.1533G>A (p.Val511=) n.2208G>A c.1626G>A (p.Val542=) n.2161G>A n.2183G>A | |
| 16 | g.50712110G>C | CA495779021 | NOD2 | c.2118G>C (p.Val706=) c.2199G>C (p.Val733=) c.1695G>C (p.Val565=) c.1533G>C (p.Val511=) n.2208G>C c.1626G>C (p.Val542=) n.2161G>C n.2183G>C | |
| 16 | g.50712110G>T | CA495779020 | NOD2 | c.2118G>T (p.Val706=) c.2199G>T (p.Val733=) c.1695G>T (p.Val565=) c.1533G>T (p.Val511=) n.2208G>T c.1626G>T (p.Val542=) n.2161G>T n.2183G>T | |
| 16 | g.50712111C>A | CA395871308 | NOD2 | c.2119C>A (p.His707Asn) c.2200C>A (p.His734Asn) c.1696C>A (p.His566Asn) c.1534C>A (p.His512Asn) n.2209C>A c.1627C>A (p.His543Asn) n.2162C>A n.2184C>A | |
| 16 | g.50712111C>G | CA395871309 | NOD2 | c.2119C>G (p.His707Asp) c.2200C>G (p.His734Asp) c.1696C>G (p.His566Asp) c.1534C>G (p.His512Asp) n.2209C>G c.1627C>G (p.His543Asp) n.2162C>G n.2184C>G | |
| 16 | g.50712111C>T | CA395871311 | NOD2 | c.2119C>T (p.His707Tyr) c.2200C>T (p.His734Tyr) c.1696C>T (p.His566Tyr) c.1534C>T (p.His512Tyr) n.2209C>T c.1627C>T (p.His543Tyr) n.2162C>T n.2184C>T | ClinVar |
| 16 | g.50712112A= | CA2221862656 | NOD2 | c.2120A= (p.His707=) c.2201A= (p.His734=) c.1697A= (p.His566=) c.1535A= (p.His512=) n.2210A= c.1628A= (p.His543=) n.2163A= n.2185A= | |
| 16 | g.50712112A>C | CA8051721 | NOD2 | c.2120A>C (p.His707Pro) c.2201A>C (p.His734Pro) c.1697A>C (p.His566Pro) c.1535A>C (p.His512Pro) n.2210A>C c.1628A>C (p.His543Pro) n.2163A>C n.2185A>C | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.50712112A>G | CA395871314 | NOD2 | c.2120A>G (p.His707Arg) c.2201A>G (p.His734Arg) c.1697A>G (p.His566Arg) c.1535A>G (p.His512Arg) n.2210A>G c.1628A>G (p.His543Arg) n.2163A>G n.2185A>G | |
| 16 | g.50712112A>T | CA395871316 | NOD2 | c.2120A>T (p.His707Leu) c.2201A>T (p.His734Leu) c.1697A>T (p.His566Leu) c.1535A>T (p.His512Leu) n.2210A>T c.1628A>T (p.His543Leu) n.2163A>T n.2185A>T | |
| 16 | g.50712113T>A | CA395871318 | NOD2 | c.2121T>A (p.His707Gln) c.2202T>A (p.His734Gln) c.1698T>A (p.His566Gln) c.1536T>A (p.His512Gln) n.2211T>A c.1629T>A (p.His543Gln) n.2164T>A n.2186T>A | |
| 16 | g.50712113T>C | CA495779023 | NOD2 | c.2121T>C (p.His707=) c.2202T>C (p.His734=) c.1698T>C (p.His566=) c.1536T>C (p.His512=) n.2211T>C c.1629T>C (p.His543=) n.2164T>C n.2186T>C | |
| 16 | g.50712113T>G | CA395871320 | NOD2 | c.2121T>G (p.His707Gln) c.2202T>G (p.His734Gln) c.1698T>G (p.His566Gln) c.1536T>G (p.His512Gln) n.2211T>G c.1629T>G (p.His543Gln) n.2164T>G n.2186T>G | |
| 16 | g.50712113dup | CA2633164665 | NOD2 | c.2121dup (p.Ala708CysfsTer?) c.2202dup (p.Ala735CysfsTer?) c.1698dup (p.Ala567CysfsTer?) c.1536dup (p.Ala513CysfsTer?) n.2211dup c.1629dup (p.Ala544CysfsTer?) n.2164dup n.2186dup | gnomAD v4 |
| 16 | g.50712113_50712114delinsTG | CA2221862659 | NOD2 | c.2121_2122delinsTG (p.His707=) c.2202_2203delinsTG (p.His734=) c.1698_1699delinsTG (p.His566=) c.1536_1537delinsTG (p.His512=) n.2211_2212delinsTG c.1629_1630delinsTG (p.His543=) n.2164_2165delinsTG n.2186_2187delinsTG | |
| 16 | g.50712114del | CA622654301 | NOD2 | c.2122del (p.Ala708ProfsTer28) c.2203del (p.Ala735ProfsTer28) c.1699del (p.Ala567ProfsTer28) c.1537del (p.Ala513ProfsTer28) n.2212del c.1630del (p.Ala544ProfsTer28) n.2165del n.2187del | dbSNP gnomAD v2 gnomAD v4 |