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.9764615T>A | CA394709041 | GRIN2A | c.2929A>T (p.Asn977Tyr) c.2458A>T (p.Asn820Tyr) n.2522A>T c.*299A>T (n.*299A>T) c.2518A>T (p.Asn840Tyr) n.2568A>T c.2770A>T (p.Asn924Tyr) c.2671A>T (p.Asn891Tyr) c.3085A>T (p.Asn1029Tyr) | |
| 16 | g.9764615T>C | CA394709042 | GRIN2A | c.2929A>G (p.Asn977Asp) c.2458A>G (p.Asn820Asp) n.2522A>G c.*299A>G (n.*299A>G) c.2518A>G (p.Asn840Asp) n.2568A>G c.2770A>G (p.Asn924Asp) c.2671A>G (p.Asn891Asp) c.3085A>G (p.Asn1029Asp) | |
| 16 | g.9764615T>G | CA7896403 | GRIN2A | c.2929A>C (p.Asn977His) c.2458A>C (p.Asn820His) n.2522A>C c.*299A>C (n.*299A>C) c.2518A>C (p.Asn840His) n.2568A>C c.2770A>C (p.Asn924His) c.2671A>C (p.Asn891His) c.3085A>C (p.Asn1029His) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9764615T= | CA2206693326 | GRIN2A | c.2929A= (p.Asn977=) c.2458A= (p.Asn820=) n.2522A= c.*299A= (n.*299A=) c.2518A= (p.Asn840=) n.2568A= c.2770A= (p.Asn924=) c.2671A= (p.Asn891=) c.3085A= (p.Asn1029=) | |
| 16 | g.9764616A= | CA2206693327 | GRIN2A | c.2928T= (p.Asn976=) c.2457T= (p.Asn819=) n.2521T= c.*298T= (n.*298T=) c.2517T= (p.Asn839=) n.2567T= c.2769T= (p.Asn923=) c.2670T= (p.Asn890=) c.3084T= (p.Asn1028=) | |
| 16 | g.9764616A>C | CA394709044 | GRIN2A | c.2928T>G (p.Asn976Lys) c.2457T>G (p.Asn819Lys) n.2521T>G c.*298T>G (n.*298T>G) c.2517T>G (p.Asn839Lys) n.2567T>G c.2769T>G (p.Asn923Lys) c.2670T>G (p.Asn890Lys) c.3084T>G (p.Asn1028Lys) | |
| 16 | g.9764616A>G | CA493693083 | GRIN2A | c.2928T>C (p.Asn976=) c.2457T>C (p.Asn819=) n.2521T>C c.*298T>C (n.*298T>C) c.2517T>C (p.Asn839=) n.2567T>C c.2769T>C (p.Asn923=) c.2670T>C (p.Asn890=) c.3084T>C (p.Asn1028=) | |
| 16 | g.9764616A>T | CA394709043 | GRIN2A | c.2928T>A (p.Asn976Lys) c.2457T>A (p.Asn819Lys) n.2521T>A c.*298T>A (n.*298T>A) c.2517T>A (p.Asn839Lys) n.2567T>A c.2769T>A (p.Asn923Lys) c.2670T>A (p.Asn890Lys) c.3084T>A (p.Asn1028Lys) | dbSNP gnomAD v3 gnomAD v4 |
| 16 | g.9764617T>A | CA394709045 | GRIN2A | c.2927A>T (p.Asn976Ile) c.2456A>T (p.Asn819Ile) n.2520A>T c.*297A>T (n.*297A>T) c.2516A>T (p.Asn839Ile) n.2566A>T c.2768A>T (p.Asn923Ile) c.2669A>T (p.Asn890Ile) c.3083A>T (p.Asn1028Ile) | |
| 16 | g.9764617T>C | CA10588015 | GRIN2A | c.2927A>G (p.Asn976Ser) c.2456A>G (p.Asn819Ser) n.2520A>G c.*297A>G (n.*297A>G) c.2516A>G (p.Asn839Ser) n.2566A>G c.2768A>G (p.Asn923Ser) c.2669A>G (p.Asn890Ser) c.3083A>G (p.Asn1028Ser) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 16 | g.9764617T>G | CA394709046 | GRIN2A | c.2927A>C (p.Asn976Thr) c.2456A>C (p.Asn819Thr) n.2520A>C c.*297A>C (n.*297A>C) c.2516A>C (p.Asn839Thr) n.2566A>C c.2768A>C (p.Asn923Thr) c.2669A>C (p.Asn890Thr) c.3083A>C (p.Asn1028Thr) | |
| 16 | g.9764617T= | CA2206693328 | GRIN2A | c.2927A= (p.Asn976=) c.2456A= (p.Asn819=) n.2520A= c.*297A= (n.*297A=) c.2516A= (p.Asn839=) n.2566A= c.2768A= (p.Asn923=) c.2669A= (p.Asn890=) c.3083A= (p.Asn1028=) | |
| 16 | g.9764618T>A | CA394709047 | GRIN2A | c.2926A>T (p.Asn976Tyr) c.2455A>T (p.Asn819Tyr) n.2519A>T c.*296A>T (n.*296A>T) c.2515A>T (p.Asn839Tyr) n.2565A>T c.2767A>T (p.Asn923Tyr) c.2668A>T (p.Asn890Tyr) c.3082A>T (p.Asn1028Tyr) | |
| 16 | g.9764618T>C | CA394709048 | GRIN2A | c.2926A>G (p.Asn976Asp) c.2455A>G (p.Asn819Asp) n.2519A>G c.*296A>G (n.*296A>G) c.2515A>G (p.Asn839Asp) n.2565A>G c.2767A>G (p.Asn923Asp) c.2668A>G (p.Asn890Asp) c.3082A>G (p.Asn1028Asp) | |
| 16 | g.9764618T>G | CA394709049 | GRIN2A | c.2926A>C (p.Asn976His) c.2455A>C (p.Asn819His) n.2519A>C c.*296A>C (n.*296A>C) c.2515A>C (p.Asn839His) n.2565A>C c.2767A>C (p.Asn923His) c.2668A>C (p.Asn890His) c.3082A>C (p.Asn1028His) | gnomAD v4 |
| 16 | g.9764619G>A | CA493693093 | GRIN2A | c.2925C>T (p.Leu975=) c.2454C>T (p.Leu818=) n.2518C>T c.*295C>T (n.*295C>T) c.2514C>T (p.Leu838=) n.2564C>T c.2766C>T (p.Leu922=) c.2667C>T (p.Leu889=) c.3081C>T (p.Leu1027=) | dbSNP |
| 16 | g.9764619G>C | CA493693092 | GRIN2A | c.2925C>G (p.Leu975=) c.2454C>G (p.Leu818=) n.2518C>G c.*295C>G (n.*295C>G) c.2514C>G (p.Leu838=) n.2564C>G c.2766C>G (p.Leu922=) c.2667C>G (p.Leu889=) c.3081C>G (p.Leu1027=) | dbSNP |
| 16 | g.9764619G= | CA2206693329 | GRIN2A | c.2925C= (p.Leu975=) c.2454C= (p.Leu818=) n.2518C= c.*295C= (n.*295C=) c.2514C= (p.Leu838=) n.2564C= c.2766C= (p.Leu922=) c.2667C= (p.Leu889=) c.3081C= (p.Leu1027=) | |
| 16 | g.9764619G>T | CA493693090 | GRIN2A | c.2925C>A (p.Leu975=) c.2454C>A (p.Leu818=) n.2518C>A c.*295C>A (n.*295C>A) c.2514C>A (p.Leu838=) n.2564C>A c.2766C>A (p.Leu922=) c.2667C>A (p.Leu889=) c.3081C>A (p.Leu1027=) | dbSNP |
| 16 | g.9764620A>C | CA394709050 | GRIN2A | c.2924T>G (p.Leu975Arg) c.2453T>G (p.Leu818Arg) n.2517T>G c.*294T>G (n.*294T>G) c.2513T>G (p.Leu838Arg) n.2563T>G c.2765T>G (p.Leu922Arg) c.2666T>G (p.Leu889Arg) c.3080T>G (p.Leu1027Arg) | |
| 16 | g.9764620A>G | CA394709051 | GRIN2A | c.2924T>C (p.Leu975Pro) c.2453T>C (p.Leu818Pro) n.2517T>C c.*294T>C (n.*294T>C) c.2513T>C (p.Leu838Pro) n.2563T>C c.2765T>C (p.Leu922Pro) c.2666T>C (p.Leu889Pro) c.3080T>C (p.Leu1027Pro) | dbSNP |
| 16 | g.9764620A>T | CA394709052 | GRIN2A | c.2924T>A (p.Leu975His) c.2453T>A (p.Leu818His) n.2517T>A c.*294T>A (n.*294T>A) c.2513T>A (p.Leu838His) n.2563T>A c.2765T>A (p.Leu922His) c.2666T>A (p.Leu889His) c.3080T>A (p.Leu1027His) | dbSNP |
| 16 | g.9764621G>A | CA394709053 | GRIN2A | c.2923C>T (p.Leu975Phe) c.2452C>T (p.Leu818Phe) n.2516C>T c.*293C>T (n.*293C>T) c.2512C>T (p.Leu838Phe) n.2562C>T c.2764C>T (p.Leu922Phe) c.2665C>T (p.Leu889Phe) c.3079C>T (p.Leu1027Phe) | dbSNP |
| 16 | g.9764621G>C | CA394709054 | GRIN2A | c.2923C>G (p.Leu975Val) c.2452C>G (p.Leu818Val) n.2516C>G c.*293C>G (n.*293C>G) c.2512C>G (p.Leu838Val) n.2562C>G c.2764C>G (p.Leu922Val) c.2665C>G (p.Leu889Val) c.3079C>G (p.Leu1027Val) | dbSNP |
| 16 | g.9764621G>T | CA394709055 | GRIN2A | c.2923C>A (p.Leu975Ile) c.2452C>A (p.Leu818Ile) n.2516C>A c.*293C>A (n.*293C>A) c.2512C>A (p.Leu838Ile) n.2562C>A c.2764C>A (p.Leu922Ile) c.2665C>A (p.Leu889Ile) c.3079C>A (p.Leu1027Ile) | dbSNP gnomAD v4 |
| 16 | g.9764622G>A | CA493693097 | GRIN2A | c.2922C>T (p.Asn974=) c.2451C>T (p.Asn817=) n.2515C>T c.*292C>T (n.*292C>T) c.2511C>T (p.Asn837=) n.2561C>T c.2763C>T (p.Asn921=) c.2664C>T (p.Asn888=) c.3078C>T (p.Asn1026=) | |
| 16 | g.9764622G>C | CA394709056 | GRIN2A | c.2922C>G (p.Asn974Lys) c.2451C>G (p.Asn817Lys) n.2515C>G c.*292C>G (n.*292C>G) c.2511C>G (p.Asn837Lys) n.2561C>G c.2763C>G (p.Asn921Lys) c.2664C>G (p.Asn888Lys) c.3078C>G (p.Asn1026Lys) | |
| 16 | g.9764622G>T | CA394709057 | GRIN2A | c.2922C>A (p.Asn974Lys) c.2451C>A (p.Asn817Lys) n.2515C>A c.*292C>A (n.*292C>A) c.2511C>A (p.Asn837Lys) n.2561C>A c.2763C>A (p.Asn921Lys) c.2664C>A (p.Asn888Lys) c.3078C>A (p.Asn1026Lys) | gnomAD v4 |
| 16 | g.9764623T>A | CA394709060 | GRIN2A | c.2921A>T (p.Asn974Ile) c.2450A>T (p.Asn817Ile) n.2514A>T c.*291A>T (n.*291A>T) c.2510A>T (p.Asn837Ile) n.2560A>T c.2762A>T (p.Asn921Ile) c.2663A>T (p.Asn888Ile) c.3077A>T (p.Asn1026Ile) | dbSNP |
| 16 | g.9764623T>C | CA394709059 | GRIN2A | c.2921A>G (p.Asn974Ser) c.2450A>G (p.Asn817Ser) n.2514A>G c.*291A>G (n.*291A>G) c.2510A>G (p.Asn837Ser) n.2560A>G c.2762A>G (p.Asn921Ser) c.2663A>G (p.Asn888Ser) c.3077A>G (p.Asn1026Ser) | dbSNP |
| 16 | g.9764623T>G | CA394709058 | GRIN2A | c.2921A>C (p.Asn974Thr) c.2450A>C (p.Asn817Thr) n.2514A>C c.*291A>C (n.*291A>C) c.2510A>C (p.Asn837Thr) n.2560A>C c.2762A>C (p.Asn921Thr) c.2663A>C (p.Asn888Thr) c.3077A>C (p.Asn1026Thr) | |
| 16 | g.9764624T>A | CA394709061 | GRIN2A | c.2920A>T (p.Asn974Tyr) c.2449A>T (p.Asn817Tyr) n.2513A>T c.*290A>T (n.*290A>T) c.2509A>T (p.Asn837Tyr) n.2559A>T c.2761A>T (p.Asn921Tyr) c.2662A>T (p.Asn888Tyr) c.3076A>T (p.Asn1026Tyr) | |
| 16 | g.9764624T>C | CA394709062 | GRIN2A | c.2920A>G (p.Asn974Asp) c.2449A>G (p.Asn817Asp) n.2513A>G c.*290A>G (n.*290A>G) c.2509A>G (p.Asn837Asp) n.2559A>G c.2761A>G (p.Asn921Asp) c.2662A>G (p.Asn888Asp) c.3076A>G (p.Asn1026Asp) | |
| 16 | g.9764624T>G | CA394709063 | GRIN2A | c.2920A>C (p.Asn974His) c.2449A>C (p.Asn817His) n.2513A>C c.*290A>C (n.*290A>C) c.2509A>C (p.Asn837His) n.2559A>C c.2761A>C (p.Asn921His) c.2662A>C (p.Asn888His) c.3076A>C (p.Asn1026His) | |
| 16 | g.9764625A= | CA2206693330 | GRIN2A | c.2919T= (p.Asp973=) c.2448T= (p.Asp816=) n.2512T= c.*289T= (n.*289T=) c.2508T= (p.Asp836=) n.2558T= c.2760T= (p.Asp920=) c.2661T= (p.Asp887=) c.3075T= (p.Asp1025=) | |
| 16 | g.9764625A>C | CA394709064 | GRIN2A | c.2919T>G (p.Asp973Glu) c.2448T>G (p.Asp816Glu) n.2512T>G c.*289T>G (n.*289T>G) c.2508T>G (p.Asp836Glu) n.2558T>G c.2760T>G (p.Asp920Glu) c.2661T>G (p.Asp887Glu) c.3075T>G (p.Asp1025Glu) | dbSNP |
| 16 | g.9764625A>G | CA493693104 | GRIN2A | c.2919T>C (p.Asp973=) c.2448T>C (p.Asp816=) n.2512T>C c.*289T>C (n.*289T>C) c.2508T>C (p.Asp836=) n.2558T>C c.2760T>C (p.Asp920=) c.2661T>C (p.Asp887=) c.3075T>C (p.Asp1025=) | |
| 16 | g.9764625A>T | CA394709065 | GRIN2A | c.2919T>A (p.Asp973Glu) c.2448T>A (p.Asp816Glu) n.2512T>A c.*289T>A (n.*289T>A) c.2508T>A (p.Asp836Glu) n.2558T>A c.2760T>A (p.Asp920Glu) c.2661T>A (p.Asp887Glu) c.3075T>A (p.Asp1025Glu) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9764626T>A | CA394709066 | GRIN2A | c.2918A>T (p.Asp973Val) c.2447A>T (p.Asp816Val) n.2511A>T c.*288A>T (n.*288A>T) c.2507A>T (p.Asp836Val) n.2557A>T c.2759A>T (p.Asp920Val) c.2660A>T (p.Asp887Val) c.3074A>T (p.Asp1025Val) | |
| 16 | g.9764626T>C | CA394709067 | GRIN2A | c.2918A>G (p.Asp973Gly) c.2447A>G (p.Asp816Gly) n.2511A>G c.*288A>G (n.*288A>G) c.2507A>G (p.Asp836Gly) n.2557A>G c.2759A>G (p.Asp920Gly) c.2660A>G (p.Asp887Gly) c.3074A>G (p.Asp1025Gly) | |
| 16 | g.9764626T>G | CA394709068 | GRIN2A | c.2918A>C (p.Asp973Ala) c.2447A>C (p.Asp816Ala) n.2511A>C c.*288A>C (n.*288A>C) c.2507A>C (p.Asp836Ala) n.2557A>C c.2759A>C (p.Asp920Ala) c.2660A>C (p.Asp887Ala) c.3074A>C (p.Asp1025Ala) | |
| 16 | g.9764627C>A | CA394709069 | GRIN2A | c.2917G>T (p.Asp973Tyr) c.2446G>T (p.Asp816Tyr) n.2510G>T c.*287G>T (n.*287G>T) c.2506G>T (p.Asp836Tyr) n.2556G>T c.2758G>T (p.Asp920Tyr) c.2659G>T (p.Asp887Tyr) c.3073G>T (p.Asp1025Tyr) | dbSNP COSMIC |
| 16 | g.9764627C= | CA2206693331 | GRIN2A | c.2917G= (p.Asp973=) c.2446G= (p.Asp816=) n.2510G= c.*287G= (n.*287G=) c.2506G= (p.Asp836=) n.2556G= c.2758G= (p.Asp920=) c.2659G= (p.Asp887=) c.3073G= (p.Asp1025=) | |
| 16 | g.9764627C>G | CA394709070 | GRIN2A | c.2917G>C (p.Asp973His) c.2446G>C (p.Asp816His) n.2510G>C c.*287G>C (n.*287G>C) c.2506G>C (p.Asp836His) n.2556G>C c.2758G>C (p.Asp920His) c.2659G>C (p.Asp887His) c.3073G>C (p.Asp1025His) | dbSNP gnomAD v4 |
| 16 | g.9764627C>T | CA394709071 | GRIN2A | c.2917G>A (p.Asp973Asn) c.2446G>A (p.Asp816Asn) n.2510G>A c.*287G>A (n.*287G>A) c.2506G>A (p.Asp836Asn) n.2556G>A c.2758G>A (p.Asp920Asn) c.2659G>A (p.Asp887Asn) c.3073G>A (p.Asp1025Asn) | ClinVar dbSNP |
| 16 | g.9764628_9764643del | CA2731687974 | GRIN2A | c.2902_2917del (p.Ala968IlefsTer28) c.2431_2446del (p.Ala811IlefsTer28) n.2495_2510del c.*272_*287del (n.*272_*287del) c.2491_2506del (p.Ala831IlefsTer28) n.2541_2556del c.2743_2758del (p.Ala915IlefsTer28) c.2644_2659del (p.Ala882IlefsTer28) c.3058_3073del (p.Ala1020IlefsTer28) | dbSNP |
| 16 | g.9764628C>A | CA394709072 | GRIN2A | c.2916G>T (p.Lys972Asn) c.2445G>T (p.Lys815Asn) n.2509G>T c.*286G>T (n.*286G>T) c.2505G>T (p.Lys835Asn) n.2555G>T c.2757G>T (p.Lys919Asn) c.2658G>T (p.Lys886Asn) c.3072G>T (p.Lys1024Asn) | dbSNP |
| 16 | g.9764628C= | CA2206693332 | GRIN2A | c.2916G= (p.Lys972=) c.2445G= (p.Lys815=) n.2509G= c.*286G= (n.*286G=) c.2505G= (p.Lys835=) n.2555G= c.2757G= (p.Lys919=) c.2658G= (p.Lys886=) c.3072G= (p.Lys1024=) | |
| 16 | g.9764628C>G | CA394709073 | GRIN2A | c.2916G>C (p.Lys972Asn) c.2445G>C (p.Lys815Asn) n.2509G>C c.*286G>C (n.*286G>C) c.2505G>C (p.Lys835Asn) n.2555G>C c.2757G>C (p.Lys919Asn) c.2658G>C (p.Lys886Asn) c.3072G>C (p.Lys1024Asn) | dbSNP |