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.9768896C>A | CA493693607 | GRIN2A | c.2550G>T (p.Thr850=) c.2079G>T (p.Thr693=) n.2143G>T c.2357-3948G>T (n.2357-3948G>T) c.2139G>T (p.Thr713=) n.2189G>T n.333G>T c.2391G>T (p.Thr797=) c.2292G>T (p.Thr764=) c.2706G>T (p.Thr902=) | dbSNP |
| 16 | g.9768896C= | CA2206695628 | GRIN2A | c.2550G= (p.Thr850=) c.2079G= (p.Thr693=) n.2143G= c.2357-3948G= (n.2357-3948G=) c.2139G= (p.Thr713=) n.2189G= n.333G= c.2391G= (p.Thr797=) c.2292G= (p.Thr764=) c.2706G= (p.Thr902=) | |
| 16 | g.9768896C>G | CA493693608 | GRIN2A | c.2550G>C (p.Thr850=) c.2079G>C (p.Thr693=) n.2143G>C c.2357-3948G>C (n.2357-3948G>C) c.2139G>C (p.Thr713=) n.2189G>C n.333G>C c.2391G>C (p.Thr797=) c.2292G>C (p.Thr764=) c.2706G>C (p.Thr902=) | dbSNP gnomAD v4 |
| 16 | g.9768896C>T | CA7896489 | GRIN2A | c.2550G>A (p.Thr850=) c.2079G>A (p.Thr693=) n.2143G>A c.2357-3948G>A (n.2357-3948G>A) c.2139G>A (p.Thr713=) n.2189G>A n.333G>A c.2391G>A (p.Thr797=) c.2292G>A (p.Thr764=) c.2706G>A (p.Thr902=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.9768897G>A | CA16615052 | GRIN2A | c.2549C>T (p.Thr850Met) c.2078C>T (p.Thr693Met) n.2142C>T c.2357-3949C>T (n.2357-3949C>T) c.2138C>T (p.Thr713Met) n.2188C>T n.332C>T c.2390C>T (p.Thr797Met) c.2291C>T (p.Thr764Met) c.2705C>T (p.Thr902Met) | ClinVar dbSNP gnomAD v4 COSMIC |
| 16 | g.9768897G>C | CA394709887 | GRIN2A | c.2549C>G (p.Thr850Arg) c.2078C>G (p.Thr693Arg) n.2142C>G c.2357-3949C>G (n.2357-3949C>G) c.2138C>G (p.Thr713Arg) n.2188C>G n.332C>G c.2390C>G (p.Thr797Arg) c.2291C>G (p.Thr764Arg) c.2705C>G (p.Thr902Arg) | dbSNP |
| 16 | g.9768897G= | CA2206695629 | GRIN2A | c.2549C= (p.Thr850=) c.2078C= (p.Thr693=) n.2142C= c.2357-3949C= (n.2357-3949C=) c.2138C= (p.Thr713=) n.2188C= n.332C= c.2390C= (p.Thr797=) c.2291C= (p.Thr764=) c.2705C= (p.Thr902=) | |
| 16 | g.9768897G>T | CA394709888 | GRIN2A | c.2549C>A (p.Thr850Lys) c.2078C>A (p.Thr693Lys) n.2142C>A c.2357-3949C>A (n.2357-3949C>A) c.2138C>A (p.Thr713Lys) n.2188C>A n.332C>A c.2390C>A (p.Thr797Lys) c.2291C>A (p.Thr764Lys) c.2705C>A (p.Thr902Lys) | |
| 16 | g.9768898T>A | CA394709889 | GRIN2A | c.2548A>T (p.Thr850Ser) c.2077A>T (p.Thr693Ser) n.2141A>T c.2357-3950A>T (n.2357-3950A>T) c.2137A>T (p.Thr713Ser) n.2187A>T n.331A>T c.2389A>T (p.Thr797Ser) c.2290A>T (p.Thr764Ser) c.2704A>T (p.Thr902Ser) | dbSNP gnomAD v4 |
| 16 | g.9768898T>C | CA394709890 | GRIN2A | c.2548A>G (p.Thr850Ala) c.2077A>G (p.Thr693Ala) n.2141A>G c.2357-3950A>G (n.2357-3950A>G) c.2137A>G (p.Thr713Ala) n.2187A>G n.331A>G c.2389A>G (p.Thr797Ala) c.2290A>G (p.Thr764Ala) c.2704A>G (p.Thr902Ala) | dbSNP |
| 16 | g.9768898T>G | CA394709891 | GRIN2A | c.2548A>C (p.Thr850Pro) c.2077A>C (p.Thr693Pro) n.2141A>C c.2357-3950A>C (n.2357-3950A>C) c.2137A>C (p.Thr713Pro) n.2187A>C n.331A>C c.2389A>C (p.Thr797Pro) c.2290A>C (p.Thr764Pro) c.2704A>C (p.Thr902Pro) | |
| 16 | g.9768899G>A | CA7896490 | GRIN2A | c.2547C>T (p.Phe849=) c.2076C>T (p.Phe692=) n.2140C>T c.2357-3951C>T (n.2357-3951C>T) c.2136C>T (p.Phe712=) n.2186C>T n.330C>T c.2388C>T (p.Phe796=) c.2289C>T (p.Phe763=) c.2703C>T (p.Phe901=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.9768899G>C | CA394709892 | GRIN2A | c.2547C>G (p.Phe849Leu) c.2076C>G (p.Phe692Leu) n.2140C>G c.2357-3951C>G (n.2357-3951C>G) c.2136C>G (p.Phe712Leu) n.2186C>G n.330C>G c.2388C>G (p.Phe796Leu) c.2289C>G (p.Phe763Leu) c.2703C>G (p.Phe901Leu) | dbSNP |
| 16 | g.9768899G= | CA2206695630 | GRIN2A | c.2547C= (p.Phe849=) c.2076C= (p.Phe692=) n.2140C= c.2357-3951C= (n.2357-3951C=) c.2136C= (p.Phe712=) n.2186C= n.330C= c.2388C= (p.Phe796=) c.2289C= (p.Phe763=) c.2703C= (p.Phe901=) | |
| 16 | g.9768899G>T | CA394709893 | GRIN2A | c.2547C>A (p.Phe849Leu) c.2076C>A (p.Phe692Leu) n.2140C>A c.2357-3951C>A (n.2357-3951C>A) c.2136C>A (p.Phe712Leu) n.2186C>A n.330C>A c.2388C>A (p.Phe796Leu) c.2289C>A (p.Phe763Leu) c.2703C>A (p.Phe901Leu) | ClinVar COSMIC |
| 16 | g.9768900A= | CA2206695631 | GRIN2A | c.2546T= (p.Phe849=) c.2075T= (p.Phe692=) n.2139T= c.2357-3952T= (n.2357-3952T=) c.2135T= (p.Phe712=) n.2185T= n.329T= c.2387T= (p.Phe796=) c.2288T= (p.Phe763=) c.2702T= (p.Phe901=) | |
| 16 | g.9768900A>C | CA394709894 | GRIN2A | c.2546T>G (p.Phe849Cys) c.2075T>G (p.Phe692Cys) n.2139T>G c.2357-3952T>G (n.2357-3952T>G) c.2135T>G (p.Phe712Cys) n.2185T>G n.329T>G c.2387T>G (p.Phe796Cys) c.2288T>G (p.Phe763Cys) c.2702T>G (p.Phe901Cys) | ClinVar dbSNP gnomAD v4 |
| 16 | g.9768900A>G | CA394709895 | GRIN2A | c.2546T>C (p.Phe849Ser) c.2075T>C (p.Phe692Ser) n.2139T>C c.2357-3952T>C (n.2357-3952T>C) c.2135T>C (p.Phe712Ser) n.2185T>C n.329T>C c.2387T>C (p.Phe796Ser) c.2288T>C (p.Phe763Ser) c.2702T>C (p.Phe901Ser) | |
| 16 | g.9768900A>T | CA394709896 | GRIN2A | c.2546T>A (p.Phe849Tyr) c.2075T>A (p.Phe692Tyr) n.2139T>A c.2357-3952T>A (n.2357-3952T>A) c.2135T>A (p.Phe712Tyr) n.2185T>A n.329T>A c.2387T>A (p.Phe796Tyr) c.2288T>A (p.Phe763Tyr) c.2702T>A (p.Phe901Tyr) | dbSNP |
| 16 | g.9768901A>C | CA394709899 | GRIN2A | c.2545T>G (p.Phe849Val) c.2074T>G (p.Phe692Val) n.2138T>G c.2357-3953T>G (n.2357-3953T>G) c.2134T>G (p.Phe712Val) n.2184T>G n.328T>G c.2386T>G (p.Phe796Val) c.2287T>G (p.Phe763Val) c.2701T>G (p.Phe901Val) | |
| 16 | g.9768901A>G | CA394709898 | GRIN2A | c.2545T>C (p.Phe849Leu) c.2074T>C (p.Phe692Leu) n.2138T>C c.2357-3953T>C (n.2357-3953T>C) c.2134T>C (p.Phe712Leu) n.2184T>C n.328T>C c.2386T>C (p.Phe796Leu) c.2287T>C (p.Phe763Leu) c.2701T>C (p.Phe901Leu) | |
| 16 | g.9768901A>T | CA394709897 | GRIN2A | c.2545T>A (p.Phe849Ile) c.2074T>A (p.Phe692Ile) n.2138T>A c.2357-3953T>A (n.2357-3953T>A) c.2134T>A (p.Phe712Ile) n.2184T>A n.328T>A c.2386T>A (p.Phe796Ile) c.2287T>A (p.Phe763Ile) c.2701T>A (p.Phe901Ile) | |
| 16 | g.9768902A= | CA2206695632 | GRIN2A | c.2544T= (p.Cys848=) c.2073T= (p.Cys691=) n.2137T= c.2357-3954T= (n.2357-3954T=) c.2133T= (p.Cys711=) n.2183T= n.327T= c.2385T= (p.Cys795=) c.2286T= (p.Cys762=) c.2700T= (p.Cys900=) | |
| 16 | g.9768902A>C | CA394709900 | GRIN2A | c.2544T>G (p.Cys848Trp) c.2073T>G (p.Cys691Trp) n.2137T>G c.2357-3954T>G (n.2357-3954T>G) c.2133T>G (p.Cys711Trp) n.2183T>G n.327T>G c.2385T>G (p.Cys795Trp) c.2286T>G (p.Cys762Trp) c.2700T>G (p.Cys900Trp) | |
| 16 | g.9768902A>G | CA493693612 | GRIN2A | c.2544T>C (p.Cys848=) c.2073T>C (p.Cys691=) n.2137T>C c.2357-3954T>C (n.2357-3954T>C) c.2133T>C (p.Cys711=) n.2183T>C n.327T>C c.2385T>C (p.Cys795=) c.2286T>C (p.Cys762=) c.2700T>C (p.Cys900=) | dbSNP |
| 16 | g.9768902A>T | CA394709901 | GRIN2A | c.2544T>A (p.Cys848Ter) c.2073T>A (p.Cys691Ter) n.2137T>A c.2357-3954T>A (n.2357-3954T>A) c.2133T>A (p.Cys711Ter) n.2183T>A n.327T>A c.2385T>A (p.Cys795Ter) c.2286T>A (p.Cys762Ter) c.2700T>A (p.Cys900Ter) | dbSNP |
| 16 | g.9768903C>A | CA394709902 | GRIN2A | c.2543G>T (p.Cys848Phe) c.2072G>T (p.Cys691Phe) n.2136G>T c.2357-3955G>T (n.2357-3955G>T) c.2132G>T (p.Cys711Phe) n.2182G>T n.326G>T c.2384G>T (p.Cys795Phe) c.2285G>T (p.Cys762Phe) c.2699G>T (p.Cys900Phe) | |
| 16 | g.9768903C= | CA2206695633 | GRIN2A | c.2543G= (p.Cys848=) c.2072G= (p.Cys691=) n.2136G= c.2357-3955G= (n.2357-3955G=) c.2132G= (p.Cys711=) n.2182G= n.326G= c.2384G= (p.Cys795=) c.2285G= (p.Cys762=) c.2699G= (p.Cys900=) | |
| 16 | g.9768903C>G | CA394709903 | GRIN2A | c.2543G>C (p.Cys848Ser) c.2072G>C (p.Cys691Ser) n.2136G>C c.2357-3955G>C (n.2357-3955G>C) c.2132G>C (p.Cys711Ser) n.2182G>C n.326G>C c.2384G>C (p.Cys795Ser) c.2285G>C (p.Cys762Ser) c.2699G>C (p.Cys900Ser) | dbSNP |
| 16 | g.9768903C>T | CA7896491 | GRIN2A | c.2543G>A (p.Cys848Tyr) c.2072G>A (p.Cys691Tyr) n.2136G>A c.2357-3955G>A (n.2357-3955G>A) c.2132G>A (p.Cys711Tyr) n.2182G>A n.326G>A c.2384G>A (p.Cys795Tyr) c.2285G>A (p.Cys762Tyr) c.2699G>A (p.Cys900Tyr) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9768904A>C | CA394709904 | GRIN2A | c.2542T>G (p.Cys848Gly) c.2071T>G (p.Cys691Gly) n.2135T>G c.2357-3956T>G (n.2357-3956T>G) c.2131T>G (p.Cys711Gly) n.2181T>G n.325T>G c.2383T>G (p.Cys795Gly) c.2284T>G (p.Cys762Gly) c.2698T>G (p.Cys900Gly) | |
| 16 | g.9768904A>G | CA394709905 | GRIN2A | c.2542T>C (p.Cys848Arg) c.2071T>C (p.Cys691Arg) n.2135T>C c.2357-3956T>C (n.2357-3956T>C) c.2131T>C (p.Cys711Arg) n.2181T>C n.325T>C c.2383T>C (p.Cys795Arg) c.2284T>C (p.Cys762Arg) c.2698T>C (p.Cys900Arg) | dbSNP gnomAD v4 |
| 16 | g.9768904A>T | CA394709906 | GRIN2A | c.2542T>A (p.Cys848Ser) c.2071T>A (p.Cys691Ser) n.2135T>A c.2357-3956T>A (n.2357-3956T>A) c.2131T>A (p.Cys711Ser) n.2181T>A n.325T>A c.2383T>A (p.Cys795Ser) c.2284T>A (p.Cys762Ser) c.2698T>A (p.Cys900Ser) | dbSNP |
| 16 | g.9768905G>A | CA493693613 | GRIN2A | c.2541C>T (p.Phe847=) c.2070C>T (p.Phe690=) n.2134C>T c.2357-3957C>T (n.2357-3957C>T) c.2130C>T (p.Phe710=) n.2180C>T n.324C>T c.2382C>T (p.Phe794=) c.2283C>T (p.Phe761=) c.2697C>T (p.Phe899=) | dbSNP gnomAD v4 |
| 16 | g.9768905G>C | CA394709907 | GRIN2A | c.2541C>G (p.Phe847Leu) c.2070C>G (p.Phe690Leu) n.2134C>G c.2357-3957C>G (n.2357-3957C>G) c.2130C>G (p.Phe710Leu) n.2180C>G n.324C>G c.2382C>G (p.Phe794Leu) c.2283C>G (p.Phe761Leu) c.2697C>G (p.Phe899Leu) | dbSNP gnomAD v4 |
| 16 | g.9768905G>T | CA394709908 | GRIN2A | c.2541C>A (p.Phe847Leu) c.2070C>A (p.Phe690Leu) n.2134C>A c.2357-3957C>A (n.2357-3957C>A) c.2130C>A (p.Phe710Leu) n.2180C>A n.324C>A c.2382C>A (p.Phe794Leu) c.2283C>A (p.Phe761Leu) c.2697C>A (p.Phe899Leu) | |
| 16 | g.9768906A>C | CA394709909 | GRIN2A | c.2540T>G (p.Phe847Cys) c.2069T>G (p.Phe690Cys) n.2133T>G c.2357-3958T>G (n.2357-3958T>G) c.2129T>G (p.Phe710Cys) n.2179T>G n.323T>G c.2381T>G (p.Phe794Cys) c.2282T>G (p.Phe761Cys) c.2696T>G (p.Phe899Cys) | |
| 16 | g.9768906A>G | CA394709910 | GRIN2A | c.2540T>C (p.Phe847Ser) c.2069T>C (p.Phe690Ser) n.2133T>C c.2357-3958T>C (n.2357-3958T>C) c.2129T>C (p.Phe710Ser) n.2179T>C n.323T>C c.2381T>C (p.Phe794Ser) c.2282T>C (p.Phe761Ser) c.2696T>C (p.Phe899Ser) | |
| 16 | g.9768906A>T | CA394709911 | GRIN2A | c.2540T>A (p.Phe847Tyr) c.2069T>A (p.Phe690Tyr) n.2133T>A c.2357-3958T>A (n.2357-3958T>A) c.2129T>A (p.Phe710Tyr) n.2179T>A n.323T>A c.2381T>A (p.Phe794Tyr) c.2282T>A (p.Phe761Tyr) c.2696T>A (p.Phe899Tyr) | dbSNP |
| 16 | g.9768907A>C | CA394709913 | GRIN2A | c.2539T>G (p.Phe847Val) c.2068T>G (p.Phe690Val) n.2132T>G c.2357-3959T>G (n.2357-3959T>G) c.2128T>G (p.Phe710Val) n.2178T>G n.322T>G c.2380T>G (p.Phe794Val) c.2281T>G (p.Phe761Val) c.2695T>G (p.Phe899Val) | |
| 16 | g.9768907A>G | CA394709914 | GRIN2A | c.2539T>C (p.Phe847Leu) c.2068T>C (p.Phe690Leu) n.2132T>C c.2357-3959T>C (n.2357-3959T>C) c.2128T>C (p.Phe710Leu) n.2178T>C n.322T>C c.2380T>C (p.Phe794Leu) c.2281T>C (p.Phe761Leu) c.2695T>C (p.Phe899Leu) | |
| 16 | g.9768907A>T | CA394709912 | GRIN2A | c.2539T>A (p.Phe847Ile) c.2068T>A (p.Phe690Ile) n.2132T>A c.2357-3959T>A (n.2357-3959T>A) c.2128T>A (p.Phe710Ile) n.2178T>A n.322T>A c.2380T>A (p.Phe794Ile) c.2281T>A (p.Phe761Ile) c.2695T>A (p.Phe899Ile) | |
| 16 | g.9768908G>A | CA493693615 | GRIN2A | c.2538C>T (p.Arg846=) c.2067C>T (p.Arg689=) n.2131C>T c.2357-3960C>T (n.2357-3960C>T) c.2127C>T (p.Arg709=) n.2177C>T n.321C>T c.2379C>T (p.Arg793=) c.2280C>T (p.Arg760=) c.2694C>T (p.Arg898=) | dbSNP |
| 16 | g.9768908G>C | CA493693616 | GRIN2A | c.2538C>G (p.Arg846=) c.2067C>G (p.Arg689=) n.2131C>G c.2357-3960C>G (n.2357-3960C>G) c.2127C>G (p.Arg709=) n.2177C>G n.321C>G c.2379C>G (p.Arg793=) c.2280C>G (p.Arg760=) c.2694C>G (p.Arg898=) | dbSNP |
| 16 | g.9768908G>T | CA493693617 | GRIN2A | c.2538C>A (p.Arg846=) c.2067C>A (p.Arg689=) n.2131C>A c.2357-3960C>A (n.2357-3960C>A) c.2127C>A (p.Arg709=) n.2177C>A n.321C>A c.2379C>A (p.Arg793=) c.2280C>A (p.Arg760=) c.2694C>A (p.Arg898=) | |
| 16 | g.9768909C>A | CA394709915 | GRIN2A | c.2537G>T (p.Arg846Leu) c.2066G>T (p.Arg689Leu) n.2130G>T c.2357-3961G>T (n.2357-3961G>T) c.2126G>T (p.Arg709Leu) n.2176G>T n.320G>T c.2378G>T (p.Arg793Leu) c.2279G>T (p.Arg760Leu) c.2693G>T (p.Arg898Leu) | ClinVar dbSNP gnomAD v4 |
| 16 | g.9768909C= | CA2206695634 | GRIN2A | c.2537G= (p.Arg846=) c.2066G= (p.Arg689=) n.2130G= c.2357-3961G= (n.2357-3961G=) c.2126G= (p.Arg709=) n.2176G= n.320G= c.2378G= (p.Arg793=) c.2279G= (p.Arg760=) c.2693G= (p.Arg898=) | |
| 16 | g.9768909C>G | CA394709916 | GRIN2A | c.2537G>C (p.Arg846Pro) c.2066G>C (p.Arg689Pro) n.2130G>C c.2357-3961G>C (n.2357-3961G>C) c.2126G>C (p.Arg709Pro) n.2176G>C n.320G>C c.2378G>C (p.Arg793Pro) c.2279G>C (p.Arg760Pro) c.2693G>C (p.Arg898Pro) | dbSNP |
| 16 | g.9768909C>T | CA7896492 | GRIN2A | c.2537G>A (p.Arg846His) c.2066G>A (p.Arg689His) n.2130G>A c.2357-3961G>A (n.2357-3961G>A) c.2126G>A (p.Arg709His) n.2176G>A n.320G>A c.2378G>A (p.Arg793His) c.2279G>A (p.Arg760His) c.2693G>A (p.Arg898His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |