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.9763108_9769129del | CA915949116 | GRIN2A | c.2357-40_*41del c.1886-40_*247del n.1950-40_3686del c.1886-40_*41del c.2357-4181_*1806del c.1946-40_4025del n.1996-40_3732del c.1946-40_*247del c.2357-40_*247del c.2198-40_*41del c.2099-40_*41del c.2513-40_*41del c.2513-40_*247del | ClinVar |
| 16 | g.9768976_9768996del | CA2731723832 | GRIN2A | c.2454_2474del (p.Gly819_Ala825del) c.1983_2003del (p.Gly662_Ala668del) n.2047_2067del c.2357-4044_2357-4024del (n.2357-4044_2357-4024del) c.2043_2063del (p.Gly682_Ala688del) n.2093_2113del n.237_257del c.2295_2315del (p.Gly766_Ala772del) c.2196_2216del (p.Gly733_Ala739del) c.2610_2630del (p.Gly871_Ala877del) | dbSNP |
| 16 | g.9768982_9768999del | CA645570194 | GRIN2A | c.2452_2469del (p.Ala818_Met823del) c.1981_1998del (p.Ala661_Met666del) n.2045_2062del c.2357-4046_2357-4029del (n.2357-4046_2357-4029del) c.2041_2058del (p.Ala681_Met686del) n.2091_2108del n.235_252del c.2293_2310del (p.Ala765_Met770del) c.2194_2211del (p.Ala732_Met737del) c.2608_2625del (p.Ala870_Met875del) | COSMIC |
| 16 | g.9768996A= | CA2206695671 | GRIN2A | c.2450T= (p.Met817=) c.1979T= (p.Met660=) n.2043T= c.2357-4048T= (n.2357-4048T=) c.2039T= (p.Met680=) n.2089T= n.233T= c.2291T= (p.Met764=) c.2192T= (p.Met731=) c.2606T= (p.Met869=) | |
| 16 | g.9768996A>C | CA16620322 | GRIN2A | c.2450T>G (p.Met817Arg) c.1979T>G (p.Met660Arg) n.2043T>G c.2357-4048T>G (n.2357-4048T>G) c.2039T>G (p.Met680Arg) n.2089T>G n.233T>G c.2291T>G (p.Met764Arg) c.2192T>G (p.Met731Arg) c.2606T>G (p.Met869Arg) | ClinVar dbSNP |
| 16 | g.9768996A>G | CA394710109 | GRIN2A | c.2450T>C (p.Met817Thr) c.1979T>C (p.Met660Thr) n.2043T>C c.2357-4048T>C (n.2357-4048T>C) c.2039T>C (p.Met680Thr) n.2089T>C n.233T>C c.2291T>C (p.Met764Thr) c.2192T>C (p.Met731Thr) c.2606T>C (p.Met869Thr) | ClinVar dbSNP |
| 16 | g.9768996A>T | CA394710110 | GRIN2A | c.2450T>A (p.Met817Lys) c.1979T>A (p.Met660Lys) n.2043T>A c.2357-4048T>A (n.2357-4048T>A) c.2039T>A (p.Met680Lys) n.2089T>A n.233T>A c.2291T>A (p.Met764Lys) c.2192T>A (p.Met731Lys) c.2606T>A (p.Met869Lys) | |
| 16 | g.9768997T>A | CA394710111 | GRIN2A | c.2449A>T (p.Met817Leu) c.1978A>T (p.Met660Leu) n.2042A>T c.2357-4049A>T (n.2357-4049A>T) c.2038A>T (p.Met680Leu) n.2088A>T n.232A>T c.2290A>T (p.Met764Leu) c.2191A>T (p.Met731Leu) c.2605A>T (p.Met869Leu) | |
| 16 | g.9768997T>C | CA314951 | GRIN2A | c.2449A>G (p.Met817Val) c.1978A>G (p.Met660Val) n.2042A>G c.2357-4049A>G (n.2357-4049A>G) c.2038A>G (p.Met680Val) n.2088A>G n.232A>G c.2290A>G (p.Met764Val) c.2191A>G (p.Met731Val) c.2605A>G (p.Met869Val) | ClinVar dbSNP |
| 16 | g.9768997T>G | CA394710112 | GRIN2A | c.2449A>C (p.Met817Leu) c.1978A>C (p.Met660Leu) n.2042A>C c.2357-4049A>C (n.2357-4049A>C) c.2038A>C (p.Met680Leu) n.2088A>C n.232A>C c.2290A>C (p.Met764Leu) c.2191A>C (p.Met731Leu) c.2605A>C (p.Met869Leu) | |
| 16 | g.9768997T= | CA2206695672 | GRIN2A | c.2449A= (p.Met817=) c.1978A= (p.Met660=) n.2042A= c.2357-4049A= (n.2357-4049A=) c.2038A= (p.Met680=) n.2088A= n.232A= c.2290A= (p.Met764=) c.2191A= (p.Met731=) c.2605A= (p.Met869=) | |
| 16 | g.9768998G>A | CA493693611 | GRIN2A | c.2448C>T (p.Asn816=) c.1977C>T (p.Asn659=) n.2041C>T c.2357-4050C>T (n.2357-4050C>T) c.2037C>T (p.Asn679=) n.2087C>T n.231C>T c.2289C>T (p.Asn763=) c.2190C>T (p.Asn730=) c.2604C>T (p.Asn868=) | gnomAD v4 |
| 16 | g.9768998G>C | CA394710113 | GRIN2A | c.2448C>G (p.Asn816Lys) c.1977C>G (p.Asn659Lys) n.2041C>G c.2357-4050C>G (n.2357-4050C>G) c.2037C>G (p.Asn679Lys) n.2087C>G n.231C>G c.2289C>G (p.Asn763Lys) c.2190C>G (p.Asn730Lys) c.2604C>G (p.Asn868Lys) | dbSNP |
| 16 | g.9768998G>T | CA394710114 | GRIN2A | c.2448C>A (p.Asn816Lys) c.1977C>A (p.Asn659Lys) n.2041C>A c.2357-4050C>A (n.2357-4050C>A) c.2037C>A (p.Asn679Lys) n.2087C>A n.231C>A c.2289C>A (p.Asn763Lys) c.2190C>A (p.Asn730Lys) c.2604C>A (p.Asn868Lys) | |
| 16 | g.9768999T>A | CA394710115 | GRIN2A | c.2447A>T (p.Asn816Ile) c.1976A>T (p.Asn659Ile) n.2040A>T c.2357-4051A>T (n.2357-4051A>T) c.2036A>T (p.Asn679Ile) n.2086A>T n.230A>T c.2288A>T (p.Asn763Ile) c.2189A>T (p.Asn730Ile) c.2603A>T (p.Asn868Ile) | dbSNP |
| 16 | g.9768999T>C | CA394710116 | GRIN2A | c.2447A>G (p.Asn816Ser) c.1976A>G (p.Asn659Ser) n.2040A>G c.2357-4051A>G (n.2357-4051A>G) c.2036A>G (p.Asn679Ser) n.2086A>G n.230A>G c.2288A>G (p.Asn763Ser) c.2189A>G (p.Asn730Ser) c.2603A>G (p.Asn868Ser) | dbSNP |
| 16 | g.9768999T>G | CA394710117 | GRIN2A | c.2447A>C (p.Asn816Thr) c.1976A>C (p.Asn659Thr) n.2040A>C c.2357-4051A>C (n.2357-4051A>C) c.2036A>C (p.Asn679Thr) n.2086A>C n.230A>C c.2288A>C (p.Asn763Thr) c.2189A>C (p.Asn730Thr) c.2603A>C (p.Asn868Thr) | dbSNP |
| 16 | g.9769000T>A | CA394710120 | GRIN2A | c.2446A>T (p.Asn816Tyr) c.1975A>T (p.Asn659Tyr) n.2039A>T c.2357-4052A>T (n.2357-4052A>T) c.2035A>T (p.Asn679Tyr) n.2085A>T n.229A>T c.2287A>T (p.Asn763Tyr) c.2188A>T (p.Asn730Tyr) c.2602A>T (p.Asn868Tyr) | |
| 16 | g.9769000T>C | CA394710119 | GRIN2A | c.2446A>G (p.Asn816Asp) c.1975A>G (p.Asn659Asp) n.2039A>G c.2357-4052A>G (n.2357-4052A>G) c.2035A>G (p.Asn679Asp) n.2085A>G n.229A>G c.2287A>G (p.Asn763Asp) c.2188A>G (p.Asn730Asp) c.2602A>G (p.Asn868Asp) | |
| 16 | g.9769000T>G | CA394710118 | GRIN2A | c.2446A>C (p.Asn816His) c.1975A>C (p.Asn659His) n.2039A>C c.2357-4052A>C (n.2357-4052A>C) c.2035A>C (p.Asn679His) n.2085A>C n.229A>C c.2287A>C (p.Asn763His) c.2188A>C (p.Asn730His) c.2602A>C (p.Asn868His) | |
| 16 | g.9769001G>A | CA493693614 | GRIN2A | c.2445C>T (p.Asp815=) c.1974C>T (p.Asp658=) n.2038C>T c.2357-4053C>T (n.2357-4053C>T) c.2034C>T (p.Asp678=) n.2084C>T n.228C>T c.2286C>T (p.Asp762=) c.2187C>T (p.Asp729=) c.2601C>T (p.Asp867=) | ClinVar dbSNP gnomAD v4 |
| 16 | g.9769001G>C | CA394710121 | GRIN2A | c.2445C>G (p.Asp815Glu) c.1974C>G (p.Asp658Glu) n.2038C>G c.2357-4053C>G (n.2357-4053C>G) c.2034C>G (p.Asp678Glu) n.2084C>G n.228C>G c.2286C>G (p.Asp762Glu) c.2187C>G (p.Asp729Glu) c.2601C>G (p.Asp867Glu) | dbSNP |
| 16 | g.9769001G= | CA2206695673 | GRIN2A | c.2445C= (p.Asp815=) c.1974C= (p.Asp658=) n.2038C= c.2357-4053C= (n.2357-4053C=) c.2034C= (p.Asp678=) n.2084C= n.228C= c.2286C= (p.Asp762=) c.2187C= (p.Asp729=) c.2601C= (p.Asp867=) | |
| 16 | g.9769001G>T | CA7896510 | GRIN2A | c.2445C>A (p.Asp815Glu) c.1974C>A (p.Asp658Glu) n.2038C>A c.2357-4053C>A (n.2357-4053C>A) c.2034C>A (p.Asp678Glu) n.2084C>A n.228C>A c.2286C>A (p.Asp762Glu) c.2187C>A (p.Asp729Glu) c.2601C>A (p.Asp867Glu) | ClinVar dbSNP ExAC |
| 16 | g.9769002T>A | CA394710122 | GRIN2A | c.2444A>T (p.Asp815Val) c.1973A>T (p.Asp658Val) n.2037A>T c.2357-4054A>T (n.2357-4054A>T) c.2033A>T (p.Asp678Val) n.2083A>T n.227A>T c.2285A>T (p.Asp762Val) c.2186A>T (p.Asp729Val) c.2600A>T (p.Asp867Val) | dbSNP |
| 16 | g.9769002T>C | CA394710123 | GRIN2A | c.2444A>G (p.Asp815Gly) c.1973A>G (p.Asp658Gly) n.2037A>G c.2357-4054A>G (n.2357-4054A>G) c.2033A>G (p.Asp678Gly) n.2083A>G n.227A>G c.2285A>G (p.Asp762Gly) c.2186A>G (p.Asp729Gly) c.2600A>G (p.Asp867Gly) | |
| 16 | g.9769002T>G | CA394710124 | GRIN2A | c.2444A>C (p.Asp815Ala) c.1973A>C (p.Asp658Ala) n.2037A>C c.2357-4054A>C (n.2357-4054A>C) c.2033A>C (p.Asp678Ala) n.2083A>C n.227A>C c.2285A>C (p.Asp762Ala) c.2186A>C (p.Asp729Ala) c.2600A>C (p.Asp867Ala) | |
| 16 | g.9769003C>A | CA394710125 | GRIN2A | c.2443G>T (p.Asp815Tyr) c.1972G>T (p.Asp658Tyr) n.2036G>T c.2357-4055G>T (n.2357-4055G>T) c.2032G>T (p.Asp678Tyr) n.2082G>T n.226G>T c.2284G>T (p.Asp762Tyr) c.2185G>T (p.Asp729Tyr) c.2599G>T (p.Asp867Tyr) | dbSNP COSMIC |
| 16 | g.9769003C>G | CA394710126 | GRIN2A | c.2443G>C (p.Asp815His) c.1972G>C (p.Asp658His) n.2036G>C c.2357-4055G>C (n.2357-4055G>C) c.2032G>C (p.Asp678His) n.2082G>C n.226G>C c.2284G>C (p.Asp762His) c.2185G>C (p.Asp729His) c.2599G>C (p.Asp867His) | ClinVar dbSNP |
| 16 | g.9769003C>T | CA394710127 | GRIN2A | c.2443G>A (p.Asp815Asn) c.1972G>A (p.Asp658Asn) n.2036G>A c.2357-4055G>A (n.2357-4055G>A) c.2032G>A (p.Asp678Asn) n.2082G>A n.226G>A c.2284G>A (p.Asp762Asn) c.2185G>A (p.Asp729Asn) c.2599G>A (p.Asp867Asn) | |
| 16 | g.9769004A= | CA2206695674 | GRIN2A | c.2442T= (p.Ile814=) c.1971T= (p.Ile657=) n.2035T= c.2357-4056T= (n.2357-4056T=) c.2031T= (p.Ile677=) n.2081T= n.225T= c.2283T= (p.Ile761=) c.2184T= (p.Ile728=) c.2598T= (p.Ile866=) | |
| 16 | g.9769004A>C | CA394710128 | GRIN2A | c.2442T>G (p.Ile814Met) c.1971T>G (p.Ile657Met) n.2035T>G c.2357-4056T>G (n.2357-4056T>G) c.2031T>G (p.Ile677Met) n.2081T>G n.225T>G c.2283T>G (p.Ile761Met) c.2184T>G (p.Ile728Met) c.2598T>G (p.Ile866Met) | |
| 16 | g.9769004A>G | CA277546538 | GRIN2A | c.2442T>C (p.Ile814=) c.1971T>C (p.Ile657=) n.2035T>C c.2357-4056T>C (n.2357-4056T>C) c.2031T>C (p.Ile677=) n.2081T>C n.225T>C c.2283T>C (p.Ile761=) c.2184T>C (p.Ile728=) c.2598T>C (p.Ile866=) | dbSNP gnomAD v4 |
| 16 | g.9769004A>T | CA493693618 | GRIN2A | c.2442T>A (p.Ile814=) c.1971T>A (p.Ile657=) n.2035T>A c.2357-4056T>A (n.2357-4056T>A) c.2031T>A (p.Ile677=) n.2081T>A n.225T>A c.2283T>A (p.Ile761=) c.2184T>A (p.Ile728=) c.2598T>A (p.Ile866=) | |
| 16 | g.9769005A= | CA2206695675 | GRIN2A | c.2441T= (p.Ile814=) c.1970T= (p.Ile657=) n.2034T= c.2357-4057T= (n.2357-4057T=) c.2030T= (p.Ile677=) n.2080T= n.224T= c.2282T= (p.Ile761=) c.2183T= (p.Ile728=) c.2597T= (p.Ile866=) | |
| 16 | g.9769005A>C | CA394710129 | GRIN2A | c.2441T>G (p.Ile814Ser) c.1970T>G (p.Ile657Ser) n.2034T>G c.2357-4057T>G (n.2357-4057T>G) c.2030T>G (p.Ile677Ser) n.2080T>G n.224T>G c.2282T>G (p.Ile761Ser) c.2183T>G (p.Ile728Ser) c.2597T>G (p.Ile866Ser) | |
| 16 | g.9769005A>G | CA7896511 | GRIN2A | c.2441T>C (p.Ile814Thr) c.1970T>C (p.Ile657Thr) n.2034T>C c.2357-4057T>C (n.2357-4057T>C) c.2030T>C (p.Ile677Thr) n.2080T>C n.224T>C c.2282T>C (p.Ile761Thr) c.2183T>C (p.Ile728Thr) c.2597T>C (p.Ile866Thr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9769005A>T | CA394710130 | GRIN2A | c.2441T>A (p.Ile814Asn) c.1970T>A (p.Ile657Asn) n.2034T>A c.2357-4057T>A (n.2357-4057T>A) c.2030T>A (p.Ile677Asn) n.2080T>A n.224T>A c.2282T>A (p.Ile761Asn) c.2183T>A (p.Ile728Asn) c.2597T>A (p.Ile866Asn) | |
| 16 | g.9769006T>A | CA394710133 | GRIN2A | c.2440A>T (p.Ile814Phe) c.1969A>T (p.Ile657Phe) n.2033A>T c.2357-4058A>T (n.2357-4058A>T) c.2029A>T (p.Ile677Phe) n.2079A>T n.223A>T c.2281A>T (p.Ile761Phe) c.2182A>T (p.Ile728Phe) c.2596A>T (p.Ile866Phe) | |
| 16 | g.9769006T>C | CA394710131 | GRIN2A | c.2440A>G (p.Ile814Val) c.1969A>G (p.Ile657Val) n.2033A>G c.2357-4058A>G (n.2357-4058A>G) c.2029A>G (p.Ile677Val) n.2079A>G n.223A>G c.2281A>G (p.Ile761Val) c.2182A>G (p.Ile728Val) c.2596A>G (p.Ile866Val) | |
| 16 | g.9769006T>G | CA394710132 | GRIN2A | c.2440A>C (p.Ile814Leu) c.1969A>C (p.Ile657Leu) n.2033A>C c.2357-4058A>C (n.2357-4058A>C) c.2029A>C (p.Ile677Leu) n.2079A>C n.223A>C c.2281A>C (p.Ile761Leu) c.2182A>C (p.Ile728Leu) c.2596A>C (p.Ile866Leu) | |
| 16 | g.9769007G>A | CA493693623 | GRIN2A | c.2439C>T (p.Asp813=) c.1968C>T (p.Asp656=) n.2032C>T c.2357-4059C>T (n.2357-4059C>T) c.2028C>T (p.Asp676=) n.2078C>T n.222C>T c.2280C>T (p.Asp760=) c.2181C>T (p.Asp727=) c.2595C>T (p.Asp865=) | dbSNP |
| 16 | g.9769007G>C | CA394710134 | GRIN2A | c.2439C>G (p.Asp813Glu) c.1968C>G (p.Asp656Glu) n.2032C>G c.2357-4059C>G (n.2357-4059C>G) c.2028C>G (p.Asp676Glu) n.2078C>G n.222C>G c.2280C>G (p.Asp760Glu) c.2181C>G (p.Asp727Glu) c.2595C>G (p.Asp865Glu) | dbSNP |
| 16 | g.9769007G>T | CA394710135 | GRIN2A | c.2439C>A (p.Asp813Glu) c.1968C>A (p.Asp656Glu) n.2032C>A c.2357-4059C>A (n.2357-4059C>A) c.2028C>A (p.Asp676Glu) n.2078C>A n.222C>A c.2280C>A (p.Asp760Glu) c.2181C>A (p.Asp727Glu) c.2595C>A (p.Asp865Glu) | |
| 16 | g.9769008T>A | CA394710136 | GRIN2A | c.2438A>T (p.Asp813Val) c.1967A>T (p.Asp656Val) n.2031A>T c.2357-4060A>T (n.2357-4060A>T) c.2027A>T (p.Asp676Val) n.2077A>T n.221A>T c.2279A>T (p.Asp760Val) c.2180A>T (p.Asp727Val) c.2594A>T (p.Asp865Val) | |
| 16 | g.9769008T>C | CA394710137 | GRIN2A | c.2438A>G (p.Asp813Gly) c.1967A>G (p.Asp656Gly) n.2031A>G c.2357-4060A>G (n.2357-4060A>G) c.2027A>G (p.Asp676Gly) n.2077A>G n.221A>G c.2279A>G (p.Asp760Gly) c.2180A>G (p.Asp727Gly) c.2594A>G (p.Asp865Gly) | |
| 16 | g.9769008T>G | CA394710138 | GRIN2A | c.2438A>C (p.Asp813Ala) c.1967A>C (p.Asp656Ala) n.2031A>C c.2357-4060A>C (n.2357-4060A>C) c.2027A>C (p.Asp676Ala) n.2077A>C n.221A>C c.2279A>C (p.Asp760Ala) c.2180A>C (p.Asp727Ala) c.2594A>C (p.Asp865Ala) | |
| 16 | g.9769009C>A | CA394710139 | GRIN2A | c.2437G>T (p.Asp813Tyr) c.1966G>T (p.Asp656Tyr) n.2030G>T c.2357-4061G>T (n.2357-4061G>T) c.2026G>T (p.Asp676Tyr) n.2076G>T n.220G>T c.2278G>T (p.Asp760Tyr) c.2179G>T (p.Asp727Tyr) c.2593G>T (p.Asp865Tyr) | dbSNP |
| 16 | g.9769009C>G | CA394710140 | GRIN2A | c.2437G>C (p.Asp813His) c.1966G>C (p.Asp656His) n.2030G>C c.2357-4061G>C (n.2357-4061G>C) c.2026G>C (p.Asp676His) n.2076G>C n.220G>C c.2278G>C (p.Asp760His) c.2179G>C (p.Asp727His) c.2593G>C (p.Asp865His) | dbSNP |
| 16 | g.9769009C>T | CA394710141 | GRIN2A | c.2437G>A (p.Asp813Asn) c.1966G>A (p.Asp656Asn) n.2030G>A c.2357-4061G>A (n.2357-4061G>A) c.2026G>A (p.Asp676Asn) n.2076G>A n.220G>A c.2278G>A (p.Asp760Asn) c.2179G>A (p.Asp727Asn) c.2593G>A (p.Asp865Asn) | dbSNP |