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.47978303_47978311del | CA2573148633 | COL2A1 | c.2782_2790del (p.Leu928_Gly930del) c.2989_2997del (p.Leu997_Gly999del) n.2075_2083del c.3133_3141del (p.Leu1045_Gly1047del) c.3130_3138del (p.Leu1044_Gly1046del) c.2077_2085del (p.Leu693_Gly695del) c.2923_2931del (p.Leu975_Gly977del) c.2443_2451del (p.Leu815_Gly817del) | ClinVar dbSNP |
| 12 | g.47978306G>A | CA479696643 | COL2A1 | c.2781C>T (p.Gly927=) c.2988C>T (p.Gly996=) n.2074C>T c.3132C>T (p.Gly1044=) c.3129C>T (p.Gly1043=) c.2076C>T (p.Gly692=) c.2922C>T (p.Gly974=) c.2442C>T (p.Gly814=) | |
| 12 | g.47978306G>C | CA479696644 | COL2A1 | c.2781C>G (p.Gly927=) c.2988C>G (p.Gly996=) n.2074C>G c.3132C>G (p.Gly1044=) c.3129C>G (p.Gly1043=) c.2076C>G (p.Gly692=) c.2922C>G (p.Gly974=) c.2442C>G (p.Gly814=) | |
| 12 | g.47978306G>T | CA479696642 | COL2A1 | c.2781C>A (p.Gly927=) c.2988C>A (p.Gly996=) n.2074C>A c.3132C>A (p.Gly1044=) c.3129C>A (p.Gly1043=) c.2076C>A (p.Gly692=) c.2922C>A (p.Gly974=) c.2442C>A (p.Gly814=) | gnomAD v4 |
| 12 | g.47978307C>A | CA384541144 | COL2A1 | c.2780G>T (p.Gly927Val) c.2987G>T (p.Gly996Val) n.2073G>T c.3131G>T (p.Gly1044Val) c.3128G>T (p.Gly1043Val) c.2075G>T (p.Gly692Val) c.2921G>T (p.Gly974Val) c.2441G>T (p.Gly814Val) | |
| 12 | g.47978307C>G | CA384541148 | COL2A1 | c.2780G>C (p.Gly927Ala) c.2987G>C (p.Gly996Ala) n.2073G>C c.3131G>C (p.Gly1044Ala) c.3128G>C (p.Gly1043Ala) c.2075G>C (p.Gly692Ala) c.2921G>C (p.Gly974Ala) c.2441G>C (p.Gly814Ala) | |
| 12 | g.47978307C>T | CA384541146 | COL2A1 | c.2780G>A (p.Gly927Asp) c.2987G>A (p.Gly996Asp) n.2073G>A c.3131G>A (p.Gly1044Asp) c.3128G>A (p.Gly1043Asp) c.2075G>A (p.Gly692Asp) c.2921G>A (p.Gly974Asp) c.2441G>A (p.Gly814Asp) | |
| 12 | g.47978308C>A | CA384541151 | COL2A1 | c.2779G>T (p.Gly927Cys) c.2986G>T (p.Gly996Cys) n.2072G>T c.3130G>T (p.Gly1044Cys) c.3127G>T (p.Gly1043Cys) c.2074G>T (p.Gly692Cys) c.2920G>T (p.Gly974Cys) c.2440G>T (p.Gly814Cys) | |
| 12 | g.47978308C>G | CA384541153 | COL2A1 | c.2779G>C (p.Gly927Arg) c.2986G>C (p.Gly996Arg) n.2072G>C c.3130G>C (p.Gly1044Arg) c.3127G>C (p.Gly1043Arg) c.2074G>C (p.Gly692Arg) c.2920G>C (p.Gly974Arg) c.2440G>C (p.Gly814Arg) | |
| 12 | g.47978308C>T | CA384541154 | COL2A1 | c.2779G>A (p.Gly927Ser) c.2986G>A (p.Gly996Ser) n.2072G>A c.3130G>A (p.Gly1044Ser) c.3127G>A (p.Gly1043Ser) c.2074G>A (p.Gly692Ser) c.2920G>A (p.Gly974Ser) c.2440G>A (p.Gly814Ser) | |
| 12 | g.47978309A>C | CA479696645 | COL2A1 | c.2778T>G (p.Pro926=) c.2985T>G (p.Pro995=) n.2071T>G c.3129T>G (p.Pro1043=) c.3126T>G (p.Pro1042=) c.2073T>G (p.Pro691=) c.2919T>G (p.Pro973=) c.2439T>G (p.Pro813=) | |
| 12 | g.47978309A>G | CA479696646 | COL2A1 | c.2778T>C (p.Pro926=) c.2985T>C (p.Pro995=) n.2071T>C c.3129T>C (p.Pro1043=) c.3126T>C (p.Pro1042=) c.2073T>C (p.Pro691=) c.2919T>C (p.Pro973=) c.2439T>C (p.Pro813=) | gnomAD v4 |
| 12 | g.47978309A>T | CA479696647 | COL2A1 | c.2778T>A (p.Pro926=) c.2985T>A (p.Pro995=) n.2071T>A c.3129T>A (p.Pro1043=) c.3126T>A (p.Pro1042=) c.2073T>A (p.Pro691=) c.2919T>A (p.Pro973=) c.2439T>A (p.Pro813=) | |
| 12 | g.47978310G>A | CA384541157 | COL2A1 | c.2777C>T (p.Pro926Leu) c.2984C>T (p.Pro995Leu) n.2070C>T c.3128C>T (p.Pro1043Leu) c.3125C>T (p.Pro1042Leu) c.2072C>T (p.Pro691Leu) c.2918C>T (p.Pro973Leu) c.2438C>T (p.Pro813Leu) | |
| 12 | g.47978310G>C | CA384541158 | COL2A1 | c.2777C>G (p.Pro926Arg) c.2984C>G (p.Pro995Arg) n.2070C>G c.3128C>G (p.Pro1043Arg) c.3125C>G (p.Pro1042Arg) c.2072C>G (p.Pro691Arg) c.2918C>G (p.Pro973Arg) c.2438C>G (p.Pro813Arg) | |
| 12 | g.47978310G>T | CA384541161 | COL2A1 | c.2777C>A (p.Pro926His) c.2984C>A (p.Pro995His) n.2070C>A c.3128C>A (p.Pro1043His) c.3125C>A (p.Pro1042His) c.2072C>A (p.Pro691His) c.2918C>A (p.Pro973His) c.2438C>A (p.Pro813His) | |
| 12 | g.47978311G>A | CA384541163 | COL2A1 | c.2776C>T (p.Pro926Ser) c.2983C>T (p.Pro995Ser) n.2069C>T c.3127C>T (p.Pro1043Ser) c.3124C>T (p.Pro1042Ser) c.2071C>T (p.Pro691Ser) c.2917C>T (p.Pro973Ser) c.2437C>T (p.Pro813Ser) | |
| 12 | g.47978311G>C | CA384541164 | COL2A1 | c.2776C>G (p.Pro926Ala) c.2983C>G (p.Pro995Ala) n.2069C>G c.3127C>G (p.Pro1043Ala) c.3124C>G (p.Pro1042Ala) c.2071C>G (p.Pro691Ala) c.2917C>G (p.Pro973Ala) c.2437C>G (p.Pro813Ala) | |
| 12 | g.47978311G>T | CA384541166 | COL2A1 | c.2776C>A (p.Pro926Thr) c.2983C>A (p.Pro995Thr) n.2069C>A c.3127C>A (p.Pro1043Thr) c.3124C>A (p.Pro1042Thr) c.2071C>A (p.Pro691Thr) c.2917C>A (p.Pro973Thr) c.2437C>A (p.Pro813Thr) | |
| 12 | g.47978312G>A | CA6534939 | COL2A1 | c.2775C>T (p.Phe925=) c.2982C>T (p.Phe994=) n.2068C>T c.3126C>T (p.Phe1042=) c.3123C>T (p.Phe1041=) c.2070C>T (p.Phe690=) c.2916C>T (p.Phe972=) c.2436C>T (p.Phe812=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978312G>C | CA384541170 | COL2A1 | c.2775C>G (p.Phe925Leu) c.2982C>G (p.Phe994Leu) n.2068C>G c.3126C>G (p.Phe1042Leu) c.3123C>G (p.Phe1041Leu) c.2070C>G (p.Phe690Leu) c.2916C>G (p.Phe972Leu) c.2436C>G (p.Phe812Leu) | |
| 12 | g.47978312G= | CA2034476821 | COL2A1 | c.2775C= (p.Phe925=) c.2982C= (p.Phe994=) n.2068C= c.3126C= (p.Phe1042=) c.3123C= (p.Phe1041=) c.2070C= (p.Phe690=) c.2916C= (p.Phe972=) c.2436C= (p.Phe812=) | |
| 12 | g.47978312G>T | CA384541172 | COL2A1 | c.2775C>A (p.Phe925Leu) c.2982C>A (p.Phe994Leu) n.2068C>A c.3126C>A (p.Phe1042Leu) c.3123C>A (p.Phe1041Leu) c.2070C>A (p.Phe690Leu) c.2916C>A (p.Phe972Leu) c.2436C>A (p.Phe812Leu) | |
| 12 | g.47978313A= | CA2034476822 | COL2A1 | c.2774T= (p.Phe925=) c.2981T= (p.Phe994=) n.2067T= c.3125T= (p.Phe1042=) c.3122T= (p.Phe1041=) c.2069T= (p.Phe690=) c.2915T= (p.Phe972=) c.2435T= (p.Phe812=) | |
| 12 | g.47978313A>C | CA384541175 | COL2A1 | c.2774T>G (p.Phe925Cys) c.2981T>G (p.Phe994Cys) n.2067T>G c.3125T>G (p.Phe1042Cys) c.3122T>G (p.Phe1041Cys) c.2069T>G (p.Phe690Cys) c.2915T>G (p.Phe972Cys) c.2435T>G (p.Phe812Cys) | |
| 12 | g.47978313A>G | CA384541179 | COL2A1 | c.2774T>C (p.Phe925Ser) c.2981T>C (p.Phe994Ser) n.2067T>C c.3125T>C (p.Phe1042Ser) c.3122T>C (p.Phe1041Ser) c.2069T>C (p.Phe690Ser) c.2915T>C (p.Phe972Ser) c.2435T>C (p.Phe812Ser) | |
| 12 | g.47978313A>T | CA384541177 | COL2A1 | c.2774T>A (p.Phe925Tyr) c.2981T>A (p.Phe994Tyr) n.2067T>A c.3125T>A (p.Phe1042Tyr) c.3122T>A (p.Phe1041Tyr) c.2069T>A (p.Phe690Tyr) c.2915T>A (p.Phe972Tyr) c.2435T>A (p.Phe812Tyr) | dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978314A= | CA2034476823 | COL2A1 | c.2773T= (p.Phe925=) c.2980T= (p.Phe994=) n.2066T= c.3124T= (p.Phe1042=) c.3121T= (p.Phe1041=) c.2068T= (p.Phe690=) c.2914T= (p.Phe972=) c.2434T= (p.Phe812=) | |
| 12 | g.47978314A>C | CA384541181 | COL2A1 | c.2773T>G (p.Phe925Val) c.2980T>G (p.Phe994Val) n.2066T>G c.3124T>G (p.Phe1042Val) c.3121T>G (p.Phe1041Val) c.2068T>G (p.Phe690Val) c.2914T>G (p.Phe972Val) c.2434T>G (p.Phe812Val) | |
| 12 | g.47978314A>G | CA236521734 | COL2A1 | c.2773T>C (p.Phe925Leu) c.2980T>C (p.Phe994Leu) n.2066T>C c.3124T>C (p.Phe1042Leu) c.3121T>C (p.Phe1041Leu) c.2068T>C (p.Phe690Leu) c.2914T>C (p.Phe972Leu) c.2434T>C (p.Phe812Leu) | ClinVar dbSNP gnomAD v3 gnomAD v4 |
| 12 | g.47978314A>T | CA384541182 | COL2A1 | c.2773T>A (p.Phe925Ile) c.2980T>A (p.Phe994Ile) n.2066T>A c.3124T>A (p.Phe1042Ile) c.3121T>A (p.Phe1041Ile) c.2068T>A (p.Phe690Ile) c.2914T>A (p.Phe972Ile) c.2434T>A (p.Phe812Ile) | |
| 12 | g.47978315T>A | CA479696648 | COL2A1 | c.2772A>T (p.Gly924=) c.2979A>T (p.Gly993=) n.2065A>T c.3123A>T (p.Gly1041=) c.3120A>T (p.Gly1040=) c.2067A>T (p.Gly689=) c.2913A>T (p.Gly971=) c.2433A>T (p.Gly811=) | COSMIC COSMIC |
| 12 | g.47978315T>C | CA479696649 | COL2A1 | c.2772A>G (p.Gly924=) c.2979A>G (p.Gly993=) n.2065A>G c.3123A>G (p.Gly1041=) c.3120A>G (p.Gly1040=) c.2067A>G (p.Gly689=) c.2913A>G (p.Gly971=) c.2433A>G (p.Gly811=) | |
| 12 | g.47978315T>G | CA479696650 | COL2A1 | c.2772A>C (p.Gly924=) c.2979A>C (p.Gly993=) n.2065A>C c.3123A>C (p.Gly1041=) c.3120A>C (p.Gly1040=) c.2067A>C (p.Gly689=) c.2913A>C (p.Gly971=) c.2433A>C (p.Gly811=) | |
| 12 | g.47978316C>A | CA384541185 | COL2A1 | c.2771G>T (p.Gly924Val) c.2978G>T (p.Gly993Val) n.2064G>T c.3122G>T (p.Gly1041Val) c.3119G>T (p.Gly1040Val) c.2066G>T (p.Gly689Val) c.2912G>T (p.Gly971Val) c.2432G>T (p.Gly811Val) | |
| 12 | g.47978316C>G | CA384541187 | COL2A1 | c.2771G>C (p.Gly924Ala) c.2978G>C (p.Gly993Ala) n.2064G>C c.3122G>C (p.Gly1041Ala) c.3119G>C (p.Gly1040Ala) c.2066G>C (p.Gly689Ala) c.2912G>C (p.Gly971Ala) c.2432G>C (p.Gly811Ala) | |
| 12 | g.47978316C>T | CA384541189 | COL2A1 | c.2771G>A (p.Gly924Glu) c.2978G>A (p.Gly993Glu) n.2064G>A c.3122G>A (p.Gly1041Glu) c.3119G>A (p.Gly1040Glu) c.2066G>A (p.Gly689Glu) c.2912G>A (p.Gly971Glu) c.2432G>A (p.Gly811Glu) | |
| 12 | g.47978317C>A | CA384541192 | COL2A1 | c.2770G>T (p.Gly924Ter) c.2977G>T (p.Gly993Ter) n.2063G>T c.3121G>T (p.Gly1041Ter) c.3118G>T (p.Gly1040Ter) c.2065G>T (p.Gly689Ter) c.2911G>T (p.Gly971Ter) c.2431G>T (p.Gly811Ter) | COSMIC COSMIC |
| 12 | g.47978317C>G | CA384541194 | COL2A1 | c.2770G>C (p.Gly924Arg) c.2977G>C (p.Gly993Arg) n.2063G>C c.3121G>C (p.Gly1041Arg) c.3118G>C (p.Gly1040Arg) c.2065G>C (p.Gly689Arg) c.2911G>C (p.Gly971Arg) c.2431G>C (p.Gly811Arg) | |
| 12 | g.47978317C>T | CA384541196 | COL2A1 | c.2770G>A (p.Gly924Arg) c.2977G>A (p.Gly993Arg) n.2063G>A c.3121G>A (p.Gly1041Arg) c.3118G>A (p.Gly1040Arg) c.2065G>A (p.Gly689Arg) c.2911G>A (p.Gly971Arg) c.2431G>A (p.Gly811Arg) | |
| 12 | g.47978322_47978323del | CA2580615171 | COL2A1 | c.2769_2770del (p.Gly924IlefsTer10) c.2976_2977del (p.Gly993IlefsTer10) n.2062_2063del c.3120_3121del (p.Gly1041IlefsTer10) c.3117_3118del (p.Gly1040IlefsTer10) c.2064_2065del (p.Gly689IlefsTer10) c.2910_2911del (p.Gly971IlefsTer10) c.2430_2431del (p.Gly811IlefsTer10) | ClinVar |
| 12 | g.47978318T>A | CA384541198 | COL2A1 | c.2769A>T (p.Arg923Ser) c.2976A>T (p.Arg992Ser) n.2062A>T c.3120A>T (p.Arg1040Ser) c.3117A>T (p.Arg1039Ser) c.2064A>T (p.Arg688Ser) c.2910A>T (p.Arg970Ser) c.2430A>T (p.Arg810Ser) | |
| 12 | g.47978318T>C | CA479696651 | COL2A1 | c.2769A>G (p.Arg923=) c.2976A>G (p.Arg992=) n.2062A>G c.3120A>G (p.Arg1040=) c.3117A>G (p.Arg1039=) c.2064A>G (p.Arg688=) c.2910A>G (p.Arg970=) c.2430A>G (p.Arg810=) | |
| 12 | g.47978318T>G | CA384541199 | COL2A1 | c.2769A>C (p.Arg923Ser) c.2976A>C (p.Arg992Ser) n.2062A>C c.3120A>C (p.Arg1040Ser) c.3117A>C (p.Arg1039Ser) c.2064A>C (p.Arg688Ser) c.2910A>C (p.Arg970Ser) c.2430A>C (p.Arg810Ser) | |
| 12 | g.47978319C>A | CA384541202 | COL2A1 | c.2768G>T (p.Arg923Ile) c.2975G>T (p.Arg992Ile) n.2061G>T c.3119G>T (p.Arg1040Ile) c.3116G>T (p.Arg1039Ile) c.2063G>T (p.Arg688Ile) c.2909G>T (p.Arg970Ile) c.2429G>T (p.Arg810Ile) | |
| 12 | g.47978319C= | CA2034476824 | COL2A1 | c.2768G= (p.Arg923=) c.2975G= (p.Arg992=) n.2061G= c.3119G= (p.Arg1040=) c.3116G= (p.Arg1039=) c.2063G= (p.Arg688=) c.2909G= (p.Arg970=) c.2429G= (p.Arg810=) | |
| 12 | g.47978319C>G | CA384541204 | COL2A1 | c.2768G>C (p.Arg923Thr) c.2975G>C (p.Arg992Thr) n.2061G>C c.3119G>C (p.Arg1040Thr) c.3116G>C (p.Arg1039Thr) c.2063G>C (p.Arg688Thr) c.2909G>C (p.Arg970Thr) c.2429G>C (p.Arg810Thr) | |
| 12 | g.47978319C>T | CA384541205 | COL2A1 | c.2768G>A (p.Arg923Lys) c.2975G>A (p.Arg992Lys) n.2061G>A c.3119G>A (p.Arg1040Lys) c.3116G>A (p.Arg1039Lys) c.2063G>A (p.Arg688Lys) c.2909G>A (p.Arg970Lys) c.2429G>A (p.Arg810Lys) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978320T>A | CA384541207 | COL2A1 | c.2767A>T (p.Arg923Ter) c.2974A>T (p.Arg992Ter) n.2060A>T c.3118A>T (p.Arg1040Ter) c.3115A>T (p.Arg1039Ter) c.2062A>T (p.Arg688Ter) c.2908A>T (p.Arg970Ter) c.2428A>T (p.Arg810Ter) | |
| 12 | g.47978320T>C | CA250688 | COL2A1 | c.2767A>G (p.Arg923Gly) c.2974A>G (p.Arg992Gly) n.2060A>G c.3118A>G (p.Arg1040Gly) c.3115A>G (p.Arg1039Gly) c.2062A>G (p.Arg688Gly) c.2908A>G (p.Arg970Gly) c.2428A>G (p.Arg810Gly) | ClinVar dbSNP |