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.9764715G>A | CA493693294 | GRIN2A | c.2829C>T (p.Tyr943=) c.2358C>T (p.Tyr786=) n.2422C>T c.*199C>T (n.*199C>T) c.2418C>T (p.Tyr806=) n.2468C>T c.2670C>T (p.Tyr890=) c.2571C>T (p.Tyr857=) c.2985C>T (p.Tyr995=) | dbSNP |
| 16 | g.9764715G>C | CA145314 | GRIN2A | c.2829C>G (p.Tyr943Ter) c.2358C>G (p.Tyr786Ter) n.2422C>G c.*199C>G (n.*199C>G) c.2418C>G (p.Tyr806Ter) n.2468C>G c.2670C>G (p.Tyr890Ter) c.2571C>G (p.Tyr857Ter) c.2985C>G (p.Tyr995Ter) | ClinVar dbSNP |
| 16 | g.9764715G= | CA2206693372 | GRIN2A | c.2829C= (p.Tyr943=) c.2358C= (p.Tyr786=) n.2422C= c.*199C= (n.*199C=) c.2418C= (p.Tyr806=) n.2468C= c.2670C= (p.Tyr890=) c.2571C= (p.Tyr857=) c.2985C= (p.Tyr995=) | |
| 16 | g.9764715G>T | CA394709266 | GRIN2A | c.2829C>A (p.Tyr943Ter) c.2358C>A (p.Tyr786Ter) n.2422C>A c.*199C>A (n.*199C>A) c.2418C>A (p.Tyr806Ter) n.2468C>A c.2670C>A (p.Tyr890Ter) c.2571C>A (p.Tyr857Ter) c.2985C>A (p.Tyr995Ter) | dbSNP |
| 16 | g.9764716T>A | CA394709267 | GRIN2A | c.2828A>T (p.Tyr943Phe) c.2357A>T (p.Tyr786Phe) n.2421A>T c.*198A>T (n.*198A>T) c.2417A>T (p.Tyr806Phe) n.2467A>T c.2669A>T (p.Tyr890Phe) c.2570A>T (p.Tyr857Phe) c.2984A>T (p.Tyr995Phe) | |
| 16 | g.9764716T>C | CA7896414 | GRIN2A | c.2828A>G (p.Tyr943Cys) c.2357A>G (p.Tyr786Cys) n.2421A>G c.*198A>G (n.*198A>G) c.2417A>G (p.Tyr806Cys) n.2467A>G c.2669A>G (p.Tyr890Cys) c.2570A>G (p.Tyr857Cys) c.2984A>G (p.Tyr995Cys) | dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC |
| 16 | g.9764716T>G | CA394709268 | GRIN2A | c.2828A>C (p.Tyr943Ser) c.2357A>C (p.Tyr786Ser) n.2421A>C c.*198A>C (n.*198A>C) c.2417A>C (p.Tyr806Ser) n.2467A>C c.2669A>C (p.Tyr890Ser) c.2570A>C (p.Tyr857Ser) c.2984A>C (p.Tyr995Ser) | dbSNP |
| 16 | g.9764716T= | CA2206693373 | GRIN2A | c.2828A= (p.Tyr943=) c.2357A= (p.Tyr786=) n.2421A= c.*198A= (n.*198A=) c.2417A= (p.Tyr806=) n.2467A= c.2669A= (p.Tyr890=) c.2570A= (p.Tyr857=) c.2984A= (p.Tyr995=) | |
| 16 | g.9764717A>C | CA394709269 | GRIN2A | c.2827T>G (p.Tyr943Asp) c.2356T>G (p.Tyr786Asp) n.2420T>G c.*197T>G (n.*197T>G) c.2416T>G (p.Tyr806Asp) n.2466T>G c.2668T>G (p.Tyr890Asp) c.2569T>G (p.Tyr857Asp) c.2983T>G (p.Tyr995Asp) | |
| 16 | g.9764717A>G | CA394709270 | GRIN2A | c.2827T>C (p.Tyr943His) c.2356T>C (p.Tyr786His) n.2420T>C c.*197T>C (n.*197T>C) c.2416T>C (p.Tyr806His) n.2466T>C c.2668T>C (p.Tyr890His) c.2569T>C (p.Tyr857His) c.2983T>C (p.Tyr995His) | |
| 16 | g.9764717A>T | CA394709271 | GRIN2A | c.2827T>A (p.Tyr943Asn) c.2356T>A (p.Tyr786Asn) n.2420T>A c.*197T>A (n.*197T>A) c.2416T>A (p.Tyr806Asn) n.2466T>A c.2668T>A (p.Tyr890Asn) c.2569T>A (p.Tyr857Asn) c.2983T>A (p.Tyr995Asn) | dbSNP |
| 16 | g.9764718C>A | CA394709274 | GRIN2A | c.2826G>T (p.Met942Ile) c.2355G>T (p.Met785Ile) n.2419G>T c.*196G>T (n.*196G>T) c.2415G>T (p.Met805Ile) n.2465G>T c.2667G>T (p.Met889Ile) c.2568G>T (p.Met856Ile) c.2982G>T (p.Met994Ile) | dbSNP |
| 16 | g.9764718C>G | CA394709273 | GRIN2A | c.2826G>C (p.Met942Ile) c.2355G>C (p.Met785Ile) n.2419G>C c.*196G>C (n.*196G>C) c.2415G>C (p.Met805Ile) n.2465G>C c.2667G>C (p.Met889Ile) c.2568G>C (p.Met856Ile) c.2982G>C (p.Met994Ile) | dbSNP |
| 16 | g.9764718C>T | CA394709272 | GRIN2A | c.2826G>A (p.Met942Ile) c.2355G>A (p.Met785Ile) n.2419G>A c.*196G>A (n.*196G>A) c.2415G>A (p.Met805Ile) n.2465G>A c.2667G>A (p.Met889Ile) c.2568G>A (p.Met856Ile) c.2982G>A (p.Met994Ile) | dbSNP |
| 16 | g.9764719A= | CA2206693374 | GRIN2A | c.2825T= (p.Met942=) c.2354T= (p.Met785=) n.2418T= c.*195T= (n.*195T=) c.2414T= (p.Met805=) n.2464T= c.2666T= (p.Met889=) c.2567T= (p.Met856=) c.2981T= (p.Met994=) | |
| 16 | g.9764719A>C | CA394709277 | GRIN2A | c.2825T>G (p.Met942Arg) c.2354T>G (p.Met785Arg) n.2418T>G c.*195T>G (n.*195T>G) c.2414T>G (p.Met805Arg) n.2464T>G c.2666T>G (p.Met889Arg) c.2567T>G (p.Met856Arg) c.2981T>G (p.Met994Arg) | dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.9764719A>G | CA394709275 | GRIN2A | c.2825T>C (p.Met942Thr) c.2354T>C (p.Met785Thr) n.2418T>C c.*195T>C (n.*195T>C) c.2414T>C (p.Met805Thr) n.2464T>C c.2666T>C (p.Met889Thr) c.2567T>C (p.Met856Thr) c.2981T>C (p.Met994Thr) | |
| 16 | g.9764719A>T | CA394709276 | GRIN2A | c.2825T>A (p.Met942Lys) c.2354T>A (p.Met785Lys) n.2418T>A c.*195T>A (n.*195T>A) c.2414T>A (p.Met805Lys) n.2464T>A c.2666T>A (p.Met889Lys) c.2567T>A (p.Met856Lys) c.2981T>A (p.Met994Lys) | dbSNP |
| 16 | g.9764720T>A | CA394709278 | GRIN2A | c.2824A>T (p.Met942Leu) c.2353A>T (p.Met785Leu) n.2417A>T c.*194A>T (n.*194A>T) c.2413A>T (p.Met805Leu) n.2463A>T c.2665A>T (p.Met889Leu) c.2566A>T (p.Met856Leu) c.2980A>T (p.Met994Leu) | dbSNP |
| 16 | g.9764720T>C | CA394709279 | GRIN2A | c.2824A>G (p.Met942Val) c.2353A>G (p.Met785Val) n.2417A>G c.*194A>G (n.*194A>G) c.2413A>G (p.Met805Val) n.2463A>G c.2665A>G (p.Met889Val) c.2566A>G (p.Met856Val) c.2980A>G (p.Met994Val) | dbSNP |
| 16 | g.9764720T>G | CA394709280 | GRIN2A | c.2824A>C (p.Met942Leu) c.2353A>C (p.Met785Leu) n.2417A>C c.*194A>C (n.*194A>C) c.2413A>C (p.Met805Leu) n.2463A>C c.2665A>C (p.Met889Leu) c.2566A>C (p.Met856Leu) c.2980A>C (p.Met994Leu) | |
| 16 | g.9764721C>A | CA7896415 | GRIN2A | c.2823G>T (p.Leu941Phe) c.2352G>T (p.Leu784Phe) n.2416G>T c.*193G>T (n.*193G>T) c.2412G>T (p.Leu804Phe) n.2462G>T c.2664G>T (p.Leu888Phe) c.2565G>T (p.Leu855Phe) c.2979G>T (p.Leu993Phe) | dbSNP ExAC gnomAD v3 gnomAD v4 |
| 16 | g.9764721C= | CA2206693375 | GRIN2A | c.2823G= (p.Leu941=) c.2352G= (p.Leu784=) n.2416G= c.*193G= (n.*193G=) c.2412G= (p.Leu804=) n.2462G= c.2664G= (p.Leu888=) c.2565G= (p.Leu855=) c.2979G= (p.Leu993=) | |
| 16 | g.9764721C>G | CA394709281 | GRIN2A | c.2823G>C (p.Leu941Phe) c.2352G>C (p.Leu784Phe) n.2416G>C c.*193G>C (n.*193G>C) c.2412G>C (p.Leu804Phe) n.2462G>C c.2664G>C (p.Leu888Phe) c.2565G>C (p.Leu855Phe) c.2979G>C (p.Leu993Phe) | dbSNP |
| 16 | g.9764721C>T | CA493693306 | GRIN2A | c.2823G>A (p.Leu941=) c.2352G>A (p.Leu784=) n.2416G>A c.*193G>A (n.*193G>A) c.2412G>A (p.Leu804=) n.2462G>A c.2664G>A (p.Leu888=) c.2565G>A (p.Leu855=) c.2979G>A (p.Leu993=) | dbSNP COSMIC |
| 16 | g.9764722A= | CA2206693376 | GRIN2A | c.2822T= (p.Leu941=) c.2351T= (p.Leu784=) n.2415T= c.*192T= (n.*192T=) c.2411T= (p.Leu804=) n.2461T= c.2663T= (p.Leu888=) c.2564T= (p.Leu855=) c.2978T= (p.Leu993=) | |
| 16 | g.9764722A>C | CA394709282 | GRIN2A | c.2822T>G (p.Leu941Trp) c.2351T>G (p.Leu784Trp) n.2415T>G c.*192T>G (n.*192T>G) c.2411T>G (p.Leu804Trp) n.2461T>G c.2663T>G (p.Leu888Trp) c.2564T>G (p.Leu855Trp) c.2978T>G (p.Leu993Trp) | |
| 16 | g.9764722A>G | CA394709284 | GRIN2A | c.2822T>C (p.Leu941Ser) c.2351T>C (p.Leu784Ser) n.2415T>C c.*192T>C (n.*192T>C) c.2411T>C (p.Leu804Ser) n.2461T>C c.2663T>C (p.Leu888Ser) c.2564T>C (p.Leu855Ser) c.2978T>C (p.Leu993Ser) | |
| 16 | g.9764722A>T | CA394709283 | GRIN2A | c.2822T>A (p.Leu941Ter) c.2351T>A (p.Leu784Ter) n.2415T>A c.*192T>A (n.*192T>A) c.2411T>A (p.Leu804Ter) n.2461T>A c.2663T>A (p.Leu888Ter) c.2564T>A (p.Leu855Ter) c.2978T>A (p.Leu993Ter) | dbSNP |
| 16 | g.9764723A= | CA2206693377 | GRIN2A | c.2821T= (p.Leu941=) c.2350T= (p.Leu784=) n.2414T= c.*191T= (n.*191T=) c.2410T= (p.Leu804=) n.2460T= c.2662T= (p.Leu888=) c.2563T= (p.Leu855=) c.2977T= (p.Leu993=) | |
| 16 | g.9764723A>C | CA394709285 | GRIN2A | c.2821T>G (p.Leu941Val) c.2350T>G (p.Leu784Val) n.2414T>G c.*191T>G (n.*191T>G) c.2410T>G (p.Leu804Val) n.2460T>G c.2662T>G (p.Leu888Val) c.2563T>G (p.Leu855Val) c.2977T>G (p.Leu993Val) | dbSNP gnomAD v4 |
| 16 | g.9764723A>G | CA493693309 | GRIN2A | c.2821T>C (p.Leu941=) c.2350T>C (p.Leu784=) n.2414T>C c.*191T>C (n.*191T>C) c.2410T>C (p.Leu804=) n.2460T>C c.2662T>C (p.Leu888=) c.2563T>C (p.Leu855=) c.2977T>C (p.Leu993=) | ClinVar dbSNP |
| 16 | g.9764723A>T | CA394709286 | GRIN2A | c.2821T>A (p.Leu941Met) c.2350T>A (p.Leu784Met) n.2414T>A c.*191T>A (n.*191T>A) c.2410T>A (p.Leu804Met) n.2460T>A c.2662T>A (p.Leu888Met) c.2563T>A (p.Leu855Met) c.2977T>A (p.Leu993Met) | dbSNP |
| 16 | g.9764724A>C | CA394709287 | GRIN2A | c.2820T>G (p.Asn940Lys) c.2349T>G (p.Asn783Lys) n.2413T>G c.*190T>G (n.*190T>G) c.2409T>G (p.Asn803Lys) n.2459T>G c.2661T>G (p.Asn887Lys) c.2562T>G (p.Asn854Lys) c.2976T>G (p.Asn992Lys) | |
| 16 | g.9764724A>G | CA493693311 | GRIN2A | c.2820T>C (p.Asn940=) c.2349T>C (p.Asn783=) n.2413T>C c.*190T>C (n.*190T>C) c.2409T>C (p.Asn803=) n.2459T>C c.2661T>C (p.Asn887=) c.2562T>C (p.Asn854=) c.2976T>C (p.Asn992=) | |
| 16 | g.9764724A>T | CA394709288 | GRIN2A | c.2820T>A (p.Asn940Lys) c.2349T>A (p.Asn783Lys) n.2413T>A c.*190T>A (n.*190T>A) c.2409T>A (p.Asn803Lys) n.2459T>A c.2661T>A (p.Asn887Lys) c.2562T>A (p.Asn854Lys) c.2976T>A (p.Asn992Lys) | dbSNP |
| 16 | g.9764725T>A | CA394709289 | GRIN2A | c.2819A>T (p.Asn940Ile) c.2348A>T (p.Asn783Ile) n.2412A>T c.*189A>T (n.*189A>T) c.2408A>T (p.Asn803Ile) n.2458A>T c.2660A>T (p.Asn887Ile) c.2561A>T (p.Asn854Ile) c.2975A>T (p.Asn992Ile) | |
| 16 | g.9764725T>C | CA394709290 | GRIN2A | c.2819A>G (p.Asn940Ser) c.2348A>G (p.Asn783Ser) n.2412A>G c.*189A>G (n.*189A>G) c.2408A>G (p.Asn803Ser) n.2458A>G c.2660A>G (p.Asn887Ser) c.2561A>G (p.Asn854Ser) c.2975A>G (p.Asn992Ser) | dbSNP |
| 16 | g.9764725T>G | CA7896416 | GRIN2A | c.2819A>C (p.Asn940Thr) c.2348A>C (p.Asn783Thr) n.2412A>C c.*189A>C (n.*189A>C) c.2408A>C (p.Asn803Thr) n.2458A>C c.2660A>C (p.Asn887Thr) c.2561A>C (p.Asn854Thr) c.2975A>C (p.Asn992Thr) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.9764725T= | CA2206693378 | GRIN2A | c.2819A= (p.Asn940=) c.2348A= (p.Asn783=) n.2412A= c.*189A= (n.*189A=) c.2408A= (p.Asn803=) n.2458A= c.2660A= (p.Asn887=) c.2561A= (p.Asn854=) c.2975A= (p.Asn992=) | |
| 16 | g.9764726T>A | CA394709291 | GRIN2A | c.2818A>T (p.Asn940Tyr) c.2347A>T (p.Asn783Tyr) n.2411A>T c.*188A>T (n.*188A>T) c.2407A>T (p.Asn803Tyr) n.2457A>T c.2659A>T (p.Asn887Tyr) c.2560A>T (p.Asn854Tyr) c.2974A>T (p.Asn992Tyr) | |
| 16 | g.9764726T>C | CA394709292 | GRIN2A | c.2818A>G (p.Asn940Asp) c.2347A>G (p.Asn783Asp) n.2411A>G c.*188A>G (n.*188A>G) c.2407A>G (p.Asn803Asp) n.2457A>G c.2659A>G (p.Asn887Asp) c.2560A>G (p.Asn854Asp) c.2974A>G (p.Asn992Asp) | |
| 16 | g.9764726T>G | CA394709293 | GRIN2A | c.2818A>C (p.Asn940His) c.2347A>C (p.Asn783His) n.2411A>C c.*188A>C (n.*188A>C) c.2407A>C (p.Asn803His) n.2457A>C c.2659A>C (p.Asn887His) c.2560A>C (p.Asn854His) c.2974A>C (p.Asn992His) | |
| 16 | g.9764727C>A | CA493693317 | GRIN2A | c.2817G>T (p.Gly939=) c.2346G>T (p.Gly782=) n.2410G>T c.*187G>T (n.*187G>T) c.2406G>T (p.Gly802=) n.2456G>T c.2658G>T (p.Gly886=) c.2559G>T (p.Gly853=) c.2973G>T (p.Gly991=) | dbSNP |
| 16 | g.9764727C>G | CA493693316 | GRIN2A | c.2817G>C (p.Gly939=) c.2346G>C (p.Gly782=) n.2410G>C c.*187G>C (n.*187G>C) c.2406G>C (p.Gly802=) n.2456G>C c.2658G>C (p.Gly886=) c.2559G>C (p.Gly853=) c.2973G>C (p.Gly991=) | dbSNP |
| 16 | g.9764727C>T | CA493693314 | GRIN2A | c.2817G>A (p.Gly939=) c.2346G>A (p.Gly782=) n.2410G>A c.*187G>A (n.*187G>A) c.2406G>A (p.Gly802=) n.2456G>A c.2658G>A (p.Gly886=) c.2559G>A (p.Gly853=) c.2973G>A (p.Gly991=) | dbSNP |
| 16 | g.9764728C>A | CA394709294 | GRIN2A | c.2816G>T (p.Gly939Val) c.2345G>T (p.Gly782Val) n.2409G>T c.*186G>T (n.*186G>T) c.2405G>T (p.Gly802Val) n.2455G>T c.2657G>T (p.Gly886Val) c.2558G>T (p.Gly853Val) c.2972G>T (p.Gly991Val) | dbSNP COSMIC |
| 16 | g.9764728C>G | CA394709295 | GRIN2A | c.2816G>C (p.Gly939Ala) c.2345G>C (p.Gly782Ala) n.2409G>C c.*186G>C (n.*186G>C) c.2405G>C (p.Gly802Ala) n.2455G>C c.2657G>C (p.Gly886Ala) c.2558G>C (p.Gly853Ala) c.2972G>C (p.Gly991Ala) | dbSNP |
| 16 | g.9764728C>T | CA394709296 | GRIN2A | c.2816G>A (p.Gly939Glu) c.2345G>A (p.Gly782Glu) n.2409G>A c.*186G>A (n.*186G>A) c.2405G>A (p.Gly802Glu) n.2455G>A c.2657G>A (p.Gly886Glu) c.2558G>A (p.Gly853Glu) c.2972G>A (p.Gly991Glu) | ClinVar dbSNP |