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 |
|---|---|---|---|---|---|
| 12 | g.47977615G>A | CA6534868 | COL2A1 | c.2943C>T (p.Gly981=) c.3150C>T (p.Gly1050=) n.2236C>T c.3294C>T (p.Gly1098=) c.3291C>T (p.Gly1097=) c.2238C>T (p.Gly746=) c.3084C>T (p.Gly1028=) c.2604C>T (p.Gly868=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47977615G>C | CA479454243 | COL2A1 | c.2943C>G (p.Gly981=) c.3150C>G (p.Gly1050=) n.2236C>G c.3294C>G (p.Gly1098=) c.3291C>G (p.Gly1097=) c.2238C>G (p.Gly746=) c.3084C>G (p.Gly1028=) c.2604C>G (p.Gly868=) | |
| 12 | g.47977615G= | CA2034476503 | COL2A1 | c.2943C= (p.Gly981=) c.3150C= (p.Gly1050=) n.2236C= c.3294C= (p.Gly1098=) c.3291C= (p.Gly1097=) c.2238C= (p.Gly746=) c.3084C= (p.Gly1028=) c.2604C= (p.Gly868=) | |
| 12 | g.47977615G>T | CA479454245 | COL2A1 | c.2943C>A (p.Gly981=) c.3150C>A (p.Gly1050=) n.2236C>A c.3294C>A (p.Gly1098=) c.3291C>A (p.Gly1097=) c.2238C>A (p.Gly746=) c.3084C>A (p.Gly1028=) c.2604C>A (p.Gly868=) | |
| 12 | g.47977616C>A | CA384540522 | COL2A1 | c.2942G>T (p.Gly981Val) c.3149G>T (p.Gly1050Val) n.2235G>T c.3293G>T (p.Gly1098Val) c.3290G>T (p.Gly1097Val) c.2237G>T (p.Gly746Val) c.3083G>T (p.Gly1028Val) c.2603G>T (p.Gly868Val) | ClinVar dbSNP |
| 12 | g.47977616C= | CA2034476504 | COL2A1 | c.2942G= (p.Gly981=) c.3149G= (p.Gly1050=) n.2235G= c.3293G= (p.Gly1098=) c.3290G= (p.Gly1097=) c.2237G= (p.Gly746=) c.3083G= (p.Gly1028=) c.2603G= (p.Gly868=) | |
| 12 | g.47977616C>G | CA384540523 | COL2A1 | c.2942G>C (p.Gly981Ala) c.3149G>C (p.Gly1050Ala) n.2235G>C c.3293G>C (p.Gly1098Ala) c.3290G>C (p.Gly1097Ala) c.2237G>C (p.Gly746Ala) c.3083G>C (p.Gly1028Ala) c.2603G>C (p.Gly868Ala) | |
| 12 | g.47977616C>T | CA384540524 | COL2A1 | c.2942G>A (p.Gly981Asp) c.3149G>A (p.Gly1050Asp) n.2235G>A c.3293G>A (p.Gly1098Asp) c.3290G>A (p.Gly1097Asp) c.2237G>A (p.Gly746Asp) c.3083G>A (p.Gly1028Asp) c.2603G>A (p.Gly868Asp) | ClinVar dbSNP |
| 12 | g.47977617C>A | CA384540525 | COL2A1 | c.2941G>T (p.Gly981Cys) c.3148G>T (p.Gly1050Cys) n.2234G>T c.3292G>T (p.Gly1098Cys) c.3289G>T (p.Gly1097Cys) c.2236G>T (p.Gly746Cys) c.3082G>T (p.Gly1028Cys) c.2602G>T (p.Gly868Cys) | |
| 12 | g.47977617C>G | CA384540526 | COL2A1 | c.2941G>C (p.Gly981Arg) c.3148G>C (p.Gly1050Arg) n.2234G>C c.3292G>C (p.Gly1098Arg) c.3289G>C (p.Gly1097Arg) c.2236G>C (p.Gly746Arg) c.3082G>C (p.Gly1028Arg) c.2602G>C (p.Gly868Arg) | |
| 12 | g.47977617C>T | CA384540527 | COL2A1 | c.2941G>A (p.Gly981Ser) c.3148G>A (p.Gly1050Ser) n.2234G>A c.3292G>A (p.Gly1098Ser) c.3289G>A (p.Gly1097Ser) c.2236G>A (p.Gly746Ser) c.3082G>A (p.Gly1028Ser) c.2602G>A (p.Gly868Ser) | |
| 12 | g.47977618A= | CA2034476505 | COL2A1 | c.2940T= (p.Asp980=) c.3147T= (p.Asp1049=) n.2233T= c.3291T= (p.Asp1097=) c.3288T= (p.Asp1096=) c.2235T= (p.Asp745=) c.3081T= (p.Asp1027=) c.2601T= (p.Asp867=) | |
| 12 | g.47977618A>C | CA384540528 | COL2A1 | c.2940T>G (p.Asp980Glu) c.3147T>G (p.Asp1049Glu) n.2233T>G c.3291T>G (p.Asp1097Glu) c.3288T>G (p.Asp1096Glu) c.2235T>G (p.Asp745Glu) c.3081T>G (p.Asp1027Glu) c.2601T>G (p.Asp867Glu) | |
| 12 | g.47977618A>G | CA479454258 | COL2A1 | c.2940T>C (p.Asp980=) c.3147T>C (p.Asp1049=) n.2233T>C c.3291T>C (p.Asp1097=) c.3288T>C (p.Asp1096=) c.2235T>C (p.Asp745=) c.3081T>C (p.Asp1027=) c.2601T>C (p.Asp867=) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47977618A>T | CA384540529 | COL2A1 | c.2940T>A (p.Asp980Glu) c.3147T>A (p.Asp1049Glu) n.2233T>A c.3291T>A (p.Asp1097Glu) c.3288T>A (p.Asp1096Glu) c.2235T>A (p.Asp745Glu) c.3081T>A (p.Asp1027Glu) c.2601T>A (p.Asp867Glu) | |
| 12 | g.47977619T>A | CA384540530 | COL2A1 | c.2939A>T (p.Asp980Val) c.3146A>T (p.Asp1049Val) n.2232A>T c.3290A>T (p.Asp1097Val) c.3287A>T (p.Asp1096Val) c.2234A>T (p.Asp745Val) c.3080A>T (p.Asp1027Val) c.2600A>T (p.Asp867Val) | |
| 12 | g.47977619T>C | CA384540531 | COL2A1 | c.2939A>G (p.Asp980Gly) c.3146A>G (p.Asp1049Gly) n.2232A>G c.3290A>G (p.Asp1097Gly) c.3287A>G (p.Asp1096Gly) c.2234A>G (p.Asp745Gly) c.3080A>G (p.Asp1027Gly) c.2600A>G (p.Asp867Gly) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47977619T>G | CA384540532 | COL2A1 | c.2939A>C (p.Asp980Ala) c.3146A>C (p.Asp1049Ala) n.2232A>C c.3290A>C (p.Asp1097Ala) c.3287A>C (p.Asp1096Ala) c.2234A>C (p.Asp745Ala) c.3080A>C (p.Asp1027Ala) c.2600A>C (p.Asp867Ala) | |
| 12 | g.47977619T= | CA2034476506 | COL2A1 | c.2939A= (p.Asp980=) c.3146A= (p.Asp1049=) n.2232A= c.3290A= (p.Asp1097=) c.3287A= (p.Asp1096=) c.2234A= (p.Asp745=) c.3080A= (p.Asp1027=) c.2600A= (p.Asp867=) | |
| 12 | g.47977620C>A | CA384540533 | COL2A1 | c.2938G>T (p.Asp980Tyr) c.3145G>T (p.Asp1049Tyr) n.2231G>T c.3289G>T (p.Asp1097Tyr) c.3286G>T (p.Asp1096Tyr) c.2233G>T (p.Asp745Tyr) c.3079G>T (p.Asp1027Tyr) c.2599G>T (p.Asp867Tyr) | |
| 12 | g.47977620C= | CA2034476507 | COL2A1 | c.2938G= (p.Asp980=) c.3145G= (p.Asp1049=) n.2231G= c.3289G= (p.Asp1097=) c.3286G= (p.Asp1096=) c.2233G= (p.Asp745=) c.3079G= (p.Asp1027=) c.2599G= (p.Asp867=) | |
| 12 | g.47977620C>G | CA384540534 | COL2A1 | c.2938G>C (p.Asp980His) c.3145G>C (p.Asp1049His) n.2231G>C c.3289G>C (p.Asp1097His) c.3286G>C (p.Asp1096His) c.2233G>C (p.Asp745His) c.3079G>C (p.Asp1027His) c.2599G>C (p.Asp867His) | |
| 12 | g.47977620C>T | CA6534869 | COL2A1 | c.2938G>A (p.Asp980Asn) c.3145G>A (p.Asp1049Asn) n.2231G>A c.3289G>A (p.Asp1097Asn) c.3286G>A (p.Asp1096Asn) c.2233G>A (p.Asp745Asn) c.3079G>A (p.Asp1027Asn) c.2599G>A (p.Asp867Asn) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 COSMIC COSMIC |
| 12 | g.47977621T>A | CA6534870 | COL2A1 | c.2937A>T (p.Arg979Ser) c.3144A>T (p.Arg1048Ser) n.2230A>T c.3288A>T (p.Arg1096Ser) c.3285A>T (p.Arg1095Ser) c.2232A>T (p.Arg744Ser) c.3078A>T (p.Arg1026Ser) c.2598A>T (p.Arg866Ser) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47977621T>C | CA479454271 | COL2A1 | c.2937A>G (p.Arg979=) c.3144A>G (p.Arg1048=) n.2230A>G c.3288A>G (p.Arg1096=) c.3285A>G (p.Arg1095=) c.2232A>G (p.Arg744=) c.3078A>G (p.Arg1026=) c.2598A>G (p.Arg866=) | ClinVar |
| 12 | g.47977621T>G | CA384540535 | COL2A1 | c.2937A>C (p.Arg979Ser) c.3144A>C (p.Arg1048Ser) n.2230A>C c.3288A>C (p.Arg1096Ser) c.3285A>C (p.Arg1095Ser) c.2232A>C (p.Arg744Ser) c.3078A>C (p.Arg1026Ser) c.2598A>C (p.Arg866Ser) | |
| 12 | g.47977621T= | CA2034476508 | COL2A1 | c.2937A= (p.Arg979=) c.3144A= (p.Arg1048=) n.2230A= c.3288A= (p.Arg1096=) c.3285A= (p.Arg1095=) c.2232A= (p.Arg744=) c.3078A= (p.Arg1026=) c.2598A= (p.Arg866=) | |
| 12 | g.47977622C>A | CA384540536 | COL2A1 | c.2936G>T (p.Arg979Ile) c.3143G>T (p.Arg1048Ile) n.2229G>T c.3287G>T (p.Arg1096Ile) c.3284G>T (p.Arg1095Ile) c.2231G>T (p.Arg744Ile) c.3077G>T (p.Arg1026Ile) c.2597G>T (p.Arg866Ile) | |
| 12 | g.47977622C>G | CA384540537 | COL2A1 | c.2936G>C (p.Arg979Thr) c.3143G>C (p.Arg1048Thr) n.2229G>C c.3287G>C (p.Arg1096Thr) c.3284G>C (p.Arg1095Thr) c.2231G>C (p.Arg744Thr) c.3077G>C (p.Arg1026Thr) c.2597G>C (p.Arg866Thr) | |
| 12 | g.47977622C>T | CA384540538 | COL2A1 | c.2936G>A (p.Arg979Lys) c.3143G>A (p.Arg1048Lys) n.2229G>A c.3287G>A (p.Arg1096Lys) c.3284G>A (p.Arg1095Lys) c.2231G>A (p.Arg744Lys) c.3077G>A (p.Arg1026Lys) c.2597G>A (p.Arg866Lys) | gnomAD v4 |
| 12 | g.47977623T>A | CA384540539 | COL2A1 | c.2935A>T (p.Arg979Ter) c.3142A>T (p.Arg1048Ter) n.2228A>T c.3286A>T (p.Arg1096Ter) c.3283A>T (p.Arg1095Ter) c.2230A>T (p.Arg744Ter) c.3076A>T (p.Arg1026Ter) c.2596A>T (p.Arg866Ter) | |
| 12 | g.47977623T>C | CA384540540 | COL2A1 | c.2935A>G (p.Arg979Gly) c.3142A>G (p.Arg1048Gly) n.2228A>G c.3286A>G (p.Arg1096Gly) c.3283A>G (p.Arg1095Gly) c.2230A>G (p.Arg744Gly) c.3076A>G (p.Arg1026Gly) c.2596A>G (p.Arg866Gly) | |
| 12 | g.47977623T>G | CA479454281 | COL2A1 | c.2935A>C (p.Arg979=) c.3142A>C (p.Arg1048=) n.2228A>C c.3286A>C (p.Arg1096=) c.3283A>C (p.Arg1095=) c.2230A>C (p.Arg744=) c.3076A>C (p.Arg1026=) c.2596A>C (p.Arg866=) | |
| 12 | g.47977624G>A | CA479454283 | COL2A1 | c.2934C>T (p.Gly978=) c.3141C>T (p.Gly1047=) n.2227C>T c.3285C>T (p.Gly1095=) c.3282C>T (p.Gly1094=) c.2229C>T (p.Gly743=) c.3075C>T (p.Gly1025=) c.2595C>T (p.Gly865=) | |
| 12 | g.47977624G>C | CA479454285 | COL2A1 | c.2934C>G (p.Gly978=) c.3141C>G (p.Gly1047=) n.2227C>G c.3285C>G (p.Gly1095=) c.3282C>G (p.Gly1094=) c.2229C>G (p.Gly743=) c.3075C>G (p.Gly1025=) c.2595C>G (p.Gly865=) | |
| 12 | g.47977624G>T | CA479454288 | COL2A1 | c.2934C>A (p.Gly978=) c.3141C>A (p.Gly1047=) n.2227C>A c.3285C>A (p.Gly1095=) c.3282C>A (p.Gly1094=) c.2229C>A (p.Gly743=) c.3075C>A (p.Gly1025=) c.2595C>A (p.Gly865=) | |
| 12 | g.47977625C>A | CA384540541 | COL2A1 | c.2933G>T (p.Gly978Val) c.3140G>T (p.Gly1047Val) n.2226G>T c.3284G>T (p.Gly1095Val) c.3281G>T (p.Gly1094Val) c.2228G>T (p.Gly743Val) c.3074G>T (p.Gly1025Val) c.2594G>T (p.Gly865Val) | |
| 12 | g.47977625C>G | CA384540542 | COL2A1 | c.2933G>C (p.Gly978Ala) c.3140G>C (p.Gly1047Ala) n.2226G>C c.3284G>C (p.Gly1095Ala) c.3281G>C (p.Gly1094Ala) c.2228G>C (p.Gly743Ala) c.3074G>C (p.Gly1025Ala) c.2594G>C (p.Gly865Ala) | |
| 12 | g.47977625C>T | CA384540543 | COL2A1 | c.2933G>A (p.Gly978Asp) c.3140G>A (p.Gly1047Asp) n.2226G>A c.3284G>A (p.Gly1095Asp) c.3281G>A (p.Gly1094Asp) c.2228G>A (p.Gly743Asp) c.3074G>A (p.Gly1025Asp) c.2594G>A (p.Gly865Asp) | |
| 12 | g.47977626C>A | CA384540544 | COL2A1 | c.2932G>T (p.Gly978Cys) c.3139G>T (p.Gly1047Cys) n.2225G>T c.3283G>T (p.Gly1095Cys) c.3280G>T (p.Gly1094Cys) c.2227G>T (p.Gly743Cys) c.3073G>T (p.Gly1025Cys) c.2593G>T (p.Gly865Cys) | |
| 12 | g.47977626C= | CA2034476509 | COL2A1 | c.2932G= (p.Gly978=) c.3139G= (p.Gly1047=) n.2225G= c.3283G= (p.Gly1095=) c.3280G= (p.Gly1094=) c.2227G= (p.Gly743=) c.3073G= (p.Gly1025=) c.2593G= (p.Gly865=) | |
| 12 | g.47977626C>G | CA384540545 | COL2A1 | c.2932G>C (p.Gly978Arg) c.3139G>C (p.Gly1047Arg) n.2225G>C c.3283G>C (p.Gly1095Arg) c.3280G>C (p.Gly1094Arg) c.2227G>C (p.Gly743Arg) c.3073G>C (p.Gly1025Arg) c.2593G>C (p.Gly865Arg) | |
| 12 | g.47977626C>T | CA384540546 | COL2A1 | c.2932G>A (p.Gly978Ser) c.3139G>A (p.Gly1047Ser) n.2225G>A c.3283G>A (p.Gly1095Ser) c.3280G>A (p.Gly1094Ser) c.2227G>A (p.Gly743Ser) c.3073G>A (p.Gly1025Ser) c.2593G>A (p.Gly865Ser) | ClinVar dbSNP |
| 12 | g.47977626_47977627delinsCA | CA2034476510 | COL2A1 | c.2931_2932delinsTG (p.Pro977=) c.3138_3139delinsTG (p.Pro1046=) n.2224_2225delinsTG c.3282_3283delinsTG (p.Pro1094=) c.3279_3280delinsTG (p.Pro1093=) c.2226_2227delinsTG (p.Pro742=) c.3072_3073delinsTG (p.Pro1024=) c.2592_2593delinsTG (p.Pro864=) | |
| 12 | g.47977627del | CA281745 | COL2A1 | c.2931del (p.Gly978AlafsTer?) c.3138del (p.Gly1047AlafsTer?) n.2224del c.3282del (p.Gly1095AlafsTer?) c.3279del (p.Gly1094AlafsTer?) c.2226del (p.Gly743AlafsTer?) c.3072del (p.Gly1025AlafsTer?) c.2592del (p.Gly865AlafsTer?) | ClinVar dbSNP |
| 12 | g.47977627A>C | CA479454301 | COL2A1 | c.2931T>G (p.Pro977=) c.3138T>G (p.Pro1046=) n.2224T>G c.3282T>G (p.Pro1094=) c.3279T>G (p.Pro1093=) c.2226T>G (p.Pro742=) c.3072T>G (p.Pro1024=) c.2592T>G (p.Pro864=) | |
| 12 | g.47977627A>G | CA479454298 | COL2A1 | c.2931T>C (p.Pro977=) c.3138T>C (p.Pro1046=) n.2224T>C c.3282T>C (p.Pro1094=) c.3279T>C (p.Pro1093=) c.2226T>C (p.Pro742=) c.3072T>C (p.Pro1024=) c.2592T>C (p.Pro864=) | |
| 12 | g.47977627A>T | CA479454299 | COL2A1 | c.2931T>A (p.Pro977=) c.3138T>A (p.Pro1046=) n.2224T>A c.3282T>A (p.Pro1094=) c.3279T>A (p.Pro1093=) c.2226T>A (p.Pro742=) c.3072T>A (p.Pro1024=) c.2592T>A (p.Pro864=) | |
| 12 | g.47977627_47977628delinsAG | CA2034476511 | COL2A1 | c.2930_2931delinsCT (p.Pro977=) c.3137_3138delinsCT (p.Pro1046=) n.2223_2224delinsCT c.3281_3282delinsCT (p.Pro1094=) c.3278_3279delinsCT (p.Pro1093=) c.2225_2226delinsCT (p.Pro742=) c.3071_3072delinsCT (p.Pro1024=) c.2591_2592delinsCT (p.Pro864=) | |
| 12 | g.47977628G>A | CA384540548 | COL2A1 | c.2930C>T (p.Pro977Leu) c.3137C>T (p.Pro1046Leu) n.2223C>T c.3281C>T (p.Pro1094Leu) c.3278C>T (p.Pro1093Leu) c.2225C>T (p.Pro742Leu) c.3071C>T (p.Pro1024Leu) c.2591C>T (p.Pro864Leu) | ClinVar |