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.9764098T>A | CA394707846 | GRIN2A | c.3446A>T (p.Asp1149Val) c.2975A>T (p.Asp992Val) n.3039A>T c.*816A>T (n.*816A>T) c.3035A>T (p.Asp1012Val) n.3085A>T c.3287A>T (p.Asp1096Val) c.3188A>T (p.Asp1063Val) c.3602A>T (p.Asp1201Val) | ClinVar dbSNP |
| 16 | g.9764098T>C | CA394707847 | GRIN2A | c.3446A>G (p.Asp1149Gly) c.2975A>G (p.Asp992Gly) n.3039A>G c.*816A>G (n.*816A>G) c.3035A>G (p.Asp1012Gly) n.3085A>G c.3287A>G (p.Asp1096Gly) c.3188A>G (p.Asp1063Gly) c.3602A>G (p.Asp1201Gly) | dbSNP |
| 16 | g.9764098T>G | CA394707848 | GRIN2A | c.3446A>C (p.Asp1149Ala) c.2975A>C (p.Asp992Ala) n.3039A>C c.*816A>C (n.*816A>C) c.3035A>C (p.Asp1012Ala) n.3085A>C c.3287A>C (p.Asp1096Ala) c.3188A>C (p.Asp1063Ala) c.3602A>C (p.Asp1201Ala) | dbSNP |
| 16 | g.9764099C>A | CA394707850 | GRIN2A | c.3445G>T (p.Asp1149Tyr) c.2974G>T (p.Asp992Tyr) n.3038G>T c.*815G>T (n.*815G>T) c.3034G>T (p.Asp1012Tyr) n.3084G>T c.3286G>T (p.Asp1096Tyr) c.3187G>T (p.Asp1063Tyr) c.3601G>T (p.Asp1201Tyr) | dbSNP |
| 16 | g.9764099C>G | CA394707851 | GRIN2A | c.3445G>C (p.Asp1149His) c.2974G>C (p.Asp992His) n.3038G>C c.*815G>C (n.*815G>C) c.3034G>C (p.Asp1012His) n.3084G>C c.3286G>C (p.Asp1096His) c.3187G>C (p.Asp1063His) c.3601G>C (p.Asp1201His) | dbSNP |
| 16 | g.9764099C>T | CA394707849 | GRIN2A | c.3445G>A (p.Asp1149Asn) c.2974G>A (p.Asp992Asn) n.3038G>A c.*815G>A (n.*815G>A) c.3034G>A (p.Asp1012Asn) n.3084G>A c.3286G>A (p.Asp1096Asn) c.3187G>A (p.Asp1063Asn) c.3601G>A (p.Asp1201Asn) | dbSNP gnomAD v4 |
| 16 | g.9764100C>A | CA493692841 | GRIN2A | c.3444G>T (p.Pro1148=) c.2973G>T (p.Pro991=) n.3037G>T c.*814G>T (n.*814G>T) c.3033G>T (p.Pro1011=) n.3083G>T c.3285G>T (p.Pro1095=) c.3186G>T (p.Pro1062=) c.3600G>T (p.Pro1200=) | ClinVar COSMIC |
| 16 | g.9764100C= | CA2206693051 | GRIN2A | c.3444G= (p.Pro1148=) c.2973G= (p.Pro991=) n.3037G= c.*814G= (n.*814G=) c.3033G= (p.Pro1011=) n.3083G= c.3285G= (p.Pro1095=) c.3186G= (p.Pro1062=) c.3600G= (p.Pro1200=) | |
| 16 | g.9764100C>G | CA493692836 | GRIN2A | c.3444G>C (p.Pro1148=) c.2973G>C (p.Pro991=) n.3037G>C c.*814G>C (n.*814G>C) c.3033G>C (p.Pro1011=) n.3083G>C c.3285G>C (p.Pro1095=) c.3186G>C (p.Pro1062=) c.3600G>C (p.Pro1200=) | |
| 16 | g.9764100C>T | CA493692838 | GRIN2A | c.3444G>A (p.Pro1148=) c.2973G>A (p.Pro991=) n.3037G>A c.*814G>A (n.*814G>A) c.3033G>A (p.Pro1011=) n.3083G>A c.3285G>A (p.Pro1095=) c.3186G>A (p.Pro1062=) c.3600G>A (p.Pro1200=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.9764101G>A | CA7896315 | GRIN2A | c.3443C>T (p.Pro1148Leu) c.2972C>T (p.Pro991Leu) n.3036C>T c.*813C>T (n.*813C>T) c.3032C>T (p.Pro1011Leu) n.3082C>T c.3284C>T (p.Pro1095Leu) c.3185C>T (p.Pro1062Leu) c.3599C>T (p.Pro1200Leu) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 16 | g.9764101G>C | CA394707852 | GRIN2A | c.3443C>G (p.Pro1148Arg) c.2972C>G (p.Pro991Arg) n.3036C>G c.*813C>G (n.*813C>G) c.3032C>G (p.Pro1011Arg) n.3082C>G c.3284C>G (p.Pro1095Arg) c.3185C>G (p.Pro1062Arg) c.3599C>G (p.Pro1200Arg) | dbSNP |
| 16 | g.9764101G= | CA2206693052 | GRIN2A | c.3443C= (p.Pro1148=) c.2972C= (p.Pro991=) n.3036C= c.*813C= (n.*813C=) c.3032C= (p.Pro1011=) n.3082C= c.3284C= (p.Pro1095=) c.3185C= (p.Pro1062=) c.3599C= (p.Pro1200=) | |
| 16 | g.9764101G>T | CA394707853 | GRIN2A | c.3443C>A (p.Pro1148Gln) c.2972C>A (p.Pro991Gln) n.3036C>A c.*813C>A (n.*813C>A) c.3032C>A (p.Pro1011Gln) n.3082C>A c.3284C>A (p.Pro1095Gln) c.3185C>A (p.Pro1062Gln) c.3599C>A (p.Pro1200Gln) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9764102G>A | CA394707854 | GRIN2A | c.3442C>T (p.Pro1148Ser) c.2971C>T (p.Pro991Ser) n.3035C>T c.*812C>T (n.*812C>T) c.3031C>T (p.Pro1011Ser) n.3081C>T c.3283C>T (p.Pro1095Ser) c.3184C>T (p.Pro1062Ser) c.3598C>T (p.Pro1200Ser) | dbSNP gnomAD v4 COSMIC |
| 16 | g.9764102G>C | CA394707855 | GRIN2A | c.3442C>G (p.Pro1148Ala) c.2971C>G (p.Pro991Ala) n.3035C>G c.*812C>G (n.*812C>G) c.3031C>G (p.Pro1011Ala) n.3081C>G c.3283C>G (p.Pro1095Ala) c.3184C>G (p.Pro1062Ala) c.3598C>G (p.Pro1200Ala) | dbSNP |
| 16 | g.9764102G>T | CA394707856 | GRIN2A | c.3442C>A (p.Pro1148Thr) c.2971C>A (p.Pro991Thr) n.3035C>A c.*812C>A (n.*812C>A) c.3031C>A (p.Pro1011Thr) n.3081C>A c.3283C>A (p.Pro1095Thr) c.3184C>A (p.Pro1062Thr) c.3598C>A (p.Pro1200Thr) | dbSNP |
| 16 | g.9764103G>A | CA493692845 | GRIN2A | c.3441C>T (p.Phe1147=) c.2970C>T (p.Phe990=) n.3034C>T c.*811C>T (n.*811C>T) c.3030C>T (p.Phe1010=) n.3080C>T c.3282C>T (p.Phe1094=) c.3183C>T (p.Phe1061=) c.3597C>T (p.Phe1199=) | ClinVar dbSNP gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.9764103G>C | CA394707857 | GRIN2A | c.3441C>G (p.Phe1147Leu) c.2970C>G (p.Phe990Leu) n.3034C>G c.*811C>G (n.*811C>G) c.3030C>G (p.Phe1010Leu) n.3080C>G c.3282C>G (p.Phe1094Leu) c.3183C>G (p.Phe1061Leu) c.3597C>G (p.Phe1199Leu) | dbSNP |
| 16 | g.9764103G= | CA2206693053 | GRIN2A | c.3441C= (p.Phe1147=) c.2970C= (p.Phe990=) n.3034C= c.*811C= (n.*811C=) c.3030C= (p.Phe1010=) n.3080C= c.3282C= (p.Phe1094=) c.3183C= (p.Phe1061=) c.3597C= (p.Phe1199=) | |
| 16 | g.9764103G>T | CA394707858 | GRIN2A | c.3441C>A (p.Phe1147Leu) c.2970C>A (p.Phe990Leu) n.3034C>A c.*811C>A (n.*811C>A) c.3030C>A (p.Phe1010Leu) n.3080C>A c.3282C>A (p.Phe1094Leu) c.3183C>A (p.Phe1061Leu) c.3597C>A (p.Phe1199Leu) | dbSNP |
| 16 | g.9764104A>C | CA394707859 | GRIN2A | c.3440T>G (p.Phe1147Cys) c.2969T>G (p.Phe990Cys) n.3033T>G c.*810T>G (n.*810T>G) c.3029T>G (p.Phe1010Cys) n.3079T>G c.3281T>G (p.Phe1094Cys) c.3182T>G (p.Phe1061Cys) c.3596T>G (p.Phe1199Cys) | |
| 16 | g.9764104A>G | CA394707860 | GRIN2A | c.3440T>C (p.Phe1147Ser) c.2969T>C (p.Phe990Ser) n.3033T>C c.*810T>C (n.*810T>C) c.3029T>C (p.Phe1010Ser) n.3079T>C c.3281T>C (p.Phe1094Ser) c.3182T>C (p.Phe1061Ser) c.3596T>C (p.Phe1199Ser) | dbSNP |
| 16 | g.9764104A>T | CA394707861 | GRIN2A | c.3440T>A (p.Phe1147Tyr) c.2969T>A (p.Phe990Tyr) n.3033T>A c.*810T>A (n.*810T>A) c.3029T>A (p.Phe1010Tyr) n.3079T>A c.3281T>A (p.Phe1094Tyr) c.3182T>A (p.Phe1061Tyr) c.3596T>A (p.Phe1199Tyr) | dbSNP |
| 16 | g.9764105A>C | CA394707862 | GRIN2A | c.3439T>G (p.Phe1147Val) c.2968T>G (p.Phe990Val) n.3032T>G c.*809T>G (n.*809T>G) c.3028T>G (p.Phe1010Val) n.3078T>G c.3280T>G (p.Phe1094Val) c.3181T>G (p.Phe1061Val) c.3595T>G (p.Phe1199Val) | |
| 16 | g.9764105A>G | CA394707863 | GRIN2A | c.3439T>C (p.Phe1147Leu) c.2968T>C (p.Phe990Leu) n.3032T>C c.*809T>C (n.*809T>C) c.3028T>C (p.Phe1010Leu) n.3078T>C c.3280T>C (p.Phe1094Leu) c.3181T>C (p.Phe1061Leu) c.3595T>C (p.Phe1199Leu) | dbSNP |
| 16 | g.9764105A>T | CA394707864 | GRIN2A | c.3439T>A (p.Phe1147Ile) c.2968T>A (p.Phe990Ile) n.3032T>A c.*809T>A (n.*809T>A) c.3028T>A (p.Phe1010Ile) n.3078T>A c.3280T>A (p.Phe1094Ile) c.3181T>A (p.Phe1061Ile) c.3595T>A (p.Phe1199Ile) | dbSNP |
| 16 | g.9764106G>A | CA493692851 | GRIN2A | c.3438C>T (p.Asp1146=) c.2967C>T (p.Asp989=) n.3031C>T c.*808C>T (n.*808C>T) c.3027C>T (p.Asp1009=) n.3077C>T c.3279C>T (p.Asp1093=) c.3180C>T (p.Asp1060=) c.3594C>T (p.Asp1198=) | dbSNP gnomAD v4 |
| 16 | g.9764106G>C | CA394707866 | GRIN2A | c.3438C>G (p.Asp1146Glu) c.2967C>G (p.Asp989Glu) n.3031C>G c.*808C>G (n.*808C>G) c.3027C>G (p.Asp1009Glu) n.3077C>G c.3279C>G (p.Asp1093Glu) c.3180C>G (p.Asp1060Glu) c.3594C>G (p.Asp1198Glu) | dbSNP |
| 16 | g.9764106G>T | CA394707865 | GRIN2A | c.3438C>A (p.Asp1146Glu) c.2967C>A (p.Asp989Glu) n.3031C>A c.*808C>A (n.*808C>A) c.3027C>A (p.Asp1009Glu) n.3077C>A c.3279C>A (p.Asp1093Glu) c.3180C>A (p.Asp1060Glu) c.3594C>A (p.Asp1198Glu) | |
| 16 | g.9764107T>A | CA394707867 | GRIN2A | c.3437A>T (p.Asp1146Val) c.2966A>T (p.Asp989Val) n.3030A>T c.*807A>T (n.*807A>T) c.3026A>T (p.Asp1009Val) n.3076A>T c.3278A>T (p.Asp1093Val) c.3179A>T (p.Asp1060Val) c.3593A>T (p.Asp1198Val) | |
| 16 | g.9764107T>C | CA394707868 | GRIN2A | c.3437A>G (p.Asp1146Gly) c.2966A>G (p.Asp989Gly) n.3030A>G c.*807A>G (n.*807A>G) c.3026A>G (p.Asp1009Gly) n.3076A>G c.3278A>G (p.Asp1093Gly) c.3179A>G (p.Asp1060Gly) c.3593A>G (p.Asp1198Gly) | |
| 16 | g.9764107T>G | CA394707869 | GRIN2A | c.3437A>C (p.Asp1146Ala) c.2966A>C (p.Asp989Ala) n.3030A>C c.*807A>C (n.*807A>C) c.3026A>C (p.Asp1009Ala) n.3076A>C c.3278A>C (p.Asp1093Ala) c.3179A>C (p.Asp1060Ala) c.3593A>C (p.Asp1198Ala) | |
| 16 | g.9764108C>A | CA394707870 | GRIN2A | c.3436G>T (p.Asp1146Tyr) c.2965G>T (p.Asp989Tyr) n.3029G>T c.*806G>T (n.*806G>T) c.3025G>T (p.Asp1009Tyr) n.3075G>T c.3277G>T (p.Asp1093Tyr) c.3178G>T (p.Asp1060Tyr) c.3592G>T (p.Asp1198Tyr) | dbSNP |
| 16 | g.9764108C>G | CA394707871 | GRIN2A | c.3436G>C (p.Asp1146His) c.2965G>C (p.Asp989His) n.3029G>C c.*806G>C (n.*806G>C) c.3025G>C (p.Asp1009His) n.3075G>C c.3277G>C (p.Asp1093His) c.3178G>C (p.Asp1060His) c.3592G>C (p.Asp1198His) | dbSNP |
| 16 | g.9764108C>T | CA394707872 | GRIN2A | c.3436G>A (p.Asp1146Asn) c.2965G>A (p.Asp989Asn) n.3029G>A c.*806G>A (n.*806G>A) c.3025G>A (p.Asp1009Asn) n.3075G>A c.3277G>A (p.Asp1093Asn) c.3178G>A (p.Asp1060Asn) c.3592G>A (p.Asp1198Asn) | dbSNP |
| 16 | g.9764109C>A | CA493692854 | GRIN2A | c.3435G>T (p.Val1145=) c.2964G>T (p.Val988=) n.3028G>T c.*805G>T (n.*805G>T) c.3024G>T (p.Val1008=) n.3074G>T c.3276G>T (p.Val1092=) c.3177G>T (p.Val1059=) c.3591G>T (p.Val1197=) | dbSNP |
| 16 | g.9764109C>G | CA493692855 | GRIN2A | c.3435G>C (p.Val1145=) c.2964G>C (p.Val988=) n.3028G>C c.*805G>C (n.*805G>C) c.3024G>C (p.Val1008=) n.3074G>C c.3276G>C (p.Val1092=) c.3177G>C (p.Val1059=) c.3591G>C (p.Val1197=) | |
| 16 | g.9764109C>T | CA493692856 | GRIN2A | c.3435G>A (p.Val1145=) c.2964G>A (p.Val988=) n.3028G>A c.*805G>A (n.*805G>A) c.3024G>A (p.Val1008=) n.3074G>A c.3276G>A (p.Val1092=) c.3177G>A (p.Val1059=) c.3591G>A (p.Val1197=) | dbSNP |
| 16 | g.9764110A>C | CA394707875 | GRIN2A | c.3434T>G (p.Val1145Gly) c.2963T>G (p.Val988Gly) n.3027T>G c.*804T>G (n.*804T>G) c.3023T>G (p.Val1008Gly) n.3073T>G c.3275T>G (p.Val1092Gly) c.3176T>G (p.Val1059Gly) c.3590T>G (p.Val1197Gly) | |
| 16 | g.9764110A>G | CA394707874 | GRIN2A | c.3434T>C (p.Val1145Ala) c.2963T>C (p.Val988Ala) n.3027T>C c.*804T>C (n.*804T>C) c.3023T>C (p.Val1008Ala) n.3073T>C c.3275T>C (p.Val1092Ala) c.3176T>C (p.Val1059Ala) c.3590T>C (p.Val1197Ala) | dbSNP |
| 16 | g.9764110A>T | CA394707873 | GRIN2A | c.3434T>A (p.Val1145Glu) c.2963T>A (p.Val988Glu) n.3027T>A c.*804T>A (n.*804T>A) c.3023T>A (p.Val1008Glu) n.3073T>A c.3275T>A (p.Val1092Glu) c.3176T>A (p.Val1059Glu) c.3590T>A (p.Val1197Glu) | dbSNP |
| 16 | g.9764111C>A | CA394707876 | GRIN2A | c.3433G>T (p.Val1145Leu) c.2962G>T (p.Val988Leu) n.3026G>T c.*803G>T (n.*803G>T) c.3022G>T (p.Val1008Leu) n.3072G>T c.3274G>T (p.Val1092Leu) c.3175G>T (p.Val1059Leu) c.3589G>T (p.Val1197Leu) | dbSNP gnomAD v4 |
| 16 | g.9764111C= | CA2206693054 | GRIN2A | c.3433G= (p.Val1145=) c.2962G= (p.Val988=) n.3026G= c.*803G= (n.*803G=) c.3022G= (p.Val1008=) n.3072G= c.3274G= (p.Val1092=) c.3175G= (p.Val1059=) c.3589G= (p.Val1197=) | |
| 16 | g.9764111C>G | CA394707877 | GRIN2A | c.3433G>C (p.Val1145Leu) c.2962G>C (p.Val988Leu) n.3026G>C c.*803G>C (n.*803G>C) c.3022G>C (p.Val1008Leu) n.3072G>C c.3274G>C (p.Val1092Leu) c.3175G>C (p.Val1059Leu) c.3589G>C (p.Val1197Leu) | dbSNP |
| 16 | g.9764111C>T | CA7896316 | GRIN2A | c.3433G>A (p.Val1145Met) c.2962G>A (p.Val988Met) n.3026G>A c.*803G>A (n.*803G>A) c.3022G>A (p.Val1008Met) n.3072G>A c.3274G>A (p.Val1092Met) c.3175G>A (p.Val1059Met) c.3589G>A (p.Val1197Met) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC |
| 16 | g.9764112G>A | CA7896317 | GRIN2A | c.3432C>T (p.Asn1144=) c.2961C>T (p.Asn987=) n.3025C>T c.*802C>T (n.*802C>T) c.3021C>T (p.Asn1007=) n.3071C>T c.3273C>T (p.Asn1091=) c.3174C>T (p.Asn1058=) c.3588C>T (p.Asn1196=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 16 | g.9764112G>C | CA394707878 | GRIN2A | c.3432C>G (p.Asn1144Lys) c.2961C>G (p.Asn987Lys) n.3025C>G c.*802C>G (n.*802C>G) c.3021C>G (p.Asn1007Lys) n.3071C>G c.3273C>G (p.Asn1091Lys) c.3174C>G (p.Asn1058Lys) c.3588C>G (p.Asn1196Lys) | dbSNP |
| 16 | g.9764112G= | CA2206693055 | GRIN2A | c.3432C= (p.Asn1144=) c.2961C= (p.Asn987=) n.3025C= c.*802C= (n.*802C=) c.3021C= (p.Asn1007=) n.3071C= c.3273C= (p.Asn1091=) c.3174C= (p.Asn1058=) c.3588C= (p.Asn1196=) |