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.47978104T>A | CA384540957 | COL2A1 | c.2810A>T (p.Lys937Met) c.3017A>T (p.Lys1006Met) n.2103A>T c.3161A>T (p.Lys1054Met) c.3158A>T (p.Lys1053Met) c.2105A>T (p.Lys702Met) c.2951A>T (p.Lys984Met) c.2471A>T (p.Lys824Met) | |
| 12 | g.47978104T>C | CA384540958 | COL2A1 | c.2810A>G (p.Lys937Arg) c.3017A>G (p.Lys1006Arg) n.2103A>G c.3161A>G (p.Lys1054Arg) c.3158A>G (p.Lys1053Arg) c.2105A>G (p.Lys702Arg) c.2951A>G (p.Lys984Arg) c.2471A>G (p.Lys824Arg) | |
| 12 | g.47978104T>G | CA384540960 | COL2A1 | c.2810A>C (p.Lys937Thr) c.3017A>C (p.Lys1006Thr) n.2103A>C c.3161A>C (p.Lys1054Thr) c.3158A>C (p.Lys1053Thr) c.2105A>C (p.Lys702Thr) c.2951A>C (p.Lys984Thr) c.2471A>C (p.Lys824Thr) | |
| 12 | g.47978105T>A | CA384540963 | COL2A1 | c.2809A>T (p.Lys937Ter) c.3016A>T (p.Lys1006Ter) n.2102A>T c.3160A>T (p.Lys1054Ter) c.3157A>T (p.Lys1053Ter) c.2104A>T (p.Lys702Ter) c.2950A>T (p.Lys984Ter) c.2470A>T (p.Lys824Ter) | |
| 12 | g.47978105T>C | CA384540968 | COL2A1 | c.2809A>G (p.Lys937Glu) c.3016A>G (p.Lys1006Glu) n.2102A>G c.3160A>G (p.Lys1054Glu) c.3157A>G (p.Lys1053Glu) c.2104A>G (p.Lys702Glu) c.2950A>G (p.Lys984Glu) c.2470A>G (p.Lys824Glu) | |
| 12 | g.47978105T>G | CA384540966 | COL2A1 | c.2809A>C (p.Lys937Gln) c.3016A>C (p.Lys1006Gln) n.2102A>C c.3160A>C (p.Lys1054Gln) c.3157A>C (p.Lys1053Gln) c.2104A>C (p.Lys702Gln) c.2950A>C (p.Lys984Gln) c.2470A>C (p.Lys824Gln) | |
| 12 | g.47978106G>A | CA479455536 | COL2A1 | c.2808C>T (p.Gly936=) c.3015C>T (p.Gly1005=) n.2101C>T c.3159C>T (p.Gly1053=) c.3156C>T (p.Gly1052=) c.2103C>T (p.Gly701=) c.2949C>T (p.Gly983=) c.2469C>T (p.Gly823=) | |
| 12 | g.47978106G>C | CA479455533 | COL2A1 | c.2808C>G (p.Gly936=) c.3015C>G (p.Gly1005=) n.2101C>G c.3159C>G (p.Gly1053=) c.3156C>G (p.Gly1052=) c.2103C>G (p.Gly701=) c.2949C>G (p.Gly983=) c.2469C>G (p.Gly823=) | |
| 12 | g.47978106G= | CA2034476717 | COL2A1 | c.2808C= (p.Gly936=) c.3015C= (p.Gly1005=) n.2101C= c.3159C= (p.Gly1053=) c.3156C= (p.Gly1052=) c.2103C= (p.Gly701=) c.2949C= (p.Gly983=) c.2469C= (p.Gly823=) | |
| 12 | g.47978106G>T | CA479455529 | COL2A1 | c.2808C>A (p.Gly936=) c.3015C>A (p.Gly1005=) n.2101C>A c.3159C>A (p.Gly1053=) c.3156C>A (p.Gly1052=) c.2103C>A (p.Gly701=) c.2949C>A (p.Gly983=) c.2469C>A (p.Gly823=) | dbSNP gnomAD v2 |
| 12 | g.47978107C>A | CA384540971 | COL2A1 | c.2807G>T (p.Gly936Val) c.3014G>T (p.Gly1005Val) n.2100G>T c.3158G>T (p.Gly1053Val) c.3155G>T (p.Gly1052Val) c.2102G>T (p.Gly701Val) c.2948G>T (p.Gly983Val) c.2468G>T (p.Gly823Val) | |
| 12 | g.47978107C>G | CA384540973 | COL2A1 | c.2807G>C (p.Gly936Ala) c.3014G>C (p.Gly1005Ala) n.2100G>C c.3158G>C (p.Gly1053Ala) c.3155G>C (p.Gly1052Ala) c.2102G>C (p.Gly701Ala) c.2948G>C (p.Gly983Ala) c.2468G>C (p.Gly823Ala) | |
| 12 | g.47978107C>T | CA384540975 | COL2A1 | c.2807G>A (p.Gly936Asp) c.3014G>A (p.Gly1005Asp) n.2100G>A c.3158G>A (p.Gly1053Asp) c.3155G>A (p.Gly1052Asp) c.2102G>A (p.Gly701Asp) c.2948G>A (p.Gly983Asp) c.2468G>A (p.Gly823Asp) | gnomAD v4 |
| 12 | g.47978108C>A | CA384540978 | COL2A1 | c.2806G>T (p.Gly936Cys) c.3013G>T (p.Gly1005Cys) n.2099G>T c.3157G>T (p.Gly1053Cys) c.3154G>T (p.Gly1052Cys) c.2101G>T (p.Gly701Cys) c.2947G>T (p.Gly983Cys) c.2467G>T (p.Gly823Cys) | |
| 12 | g.47978108C= | CA2034476718 | COL2A1 | c.2806G= (p.Gly936=) c.3013G= (p.Gly1005=) n.2099G= c.3157G= (p.Gly1053=) c.3154G= (p.Gly1052=) c.2101G= (p.Gly701=) c.2947G= (p.Gly983=) c.2467G= (p.Gly823=) | |
| 12 | g.47978108C>G | CA384540980 | COL2A1 | c.2806G>C (p.Gly936Arg) c.3013G>C (p.Gly1005Arg) n.2099G>C c.3157G>C (p.Gly1053Arg) c.3154G>C (p.Gly1052Arg) c.2101G>C (p.Gly701Arg) c.2947G>C (p.Gly983Arg) c.2467G>C (p.Gly823Arg) | |
| 12 | g.47978108C>T | CA6534912 | COL2A1 | c.2806G>A (p.Gly936Ser) c.3013G>A (p.Gly1005Ser) n.2099G>A c.3157G>A (p.Gly1053Ser) c.3154G>A (p.Gly1052Ser) c.2101G>A (p.Gly701Ser) c.2947G>A (p.Gly983Ser) c.2467G>A (p.Gly823Ser) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47978109G>A | CA6534913 | COL2A1 | c.2805C>T (p.Pro935=) c.3012C>T (p.Pro1004=) n.2098C>T c.3156C>T (p.Pro1052=) c.3153C>T (p.Pro1051=) c.2100C>T (p.Pro700=) c.2946C>T (p.Pro982=) c.2466C>T (p.Pro822=) | dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978109G>C | CA479455554 | COL2A1 | c.2805C>G (p.Pro935=) c.3012C>G (p.Pro1004=) n.2098C>G c.3156C>G (p.Pro1052=) c.3153C>G (p.Pro1051=) c.2100C>G (p.Pro700=) c.2946C>G (p.Pro982=) c.2466C>G (p.Pro822=) | |
| 12 | g.47978109G= | CA2034476719 | COL2A1 | c.2805C= (p.Pro935=) c.3012C= (p.Pro1004=) n.2098C= c.3156C= (p.Pro1052=) c.3153C= (p.Pro1051=) c.2100C= (p.Pro700=) c.2946C= (p.Pro982=) c.2466C= (p.Pro822=) | |
| 12 | g.47978109G>T | CA479455557 | COL2A1 | c.2805C>A (p.Pro935=) c.3012C>A (p.Pro1004=) n.2098C>A c.3156C>A (p.Pro1052=) c.3153C>A (p.Pro1051=) c.2100C>A (p.Pro700=) c.2946C>A (p.Pro982=) c.2466C>A (p.Pro822=) | gnomAD v4 |
| 12 | g.47978111del | CA2695216646 | COL2A1 | c.2805del (p.Gly936AlafsTer23) c.3012del (p.Gly1005AlafsTer23) n.2098del c.3156del (p.Gly1053AlafsTer23) c.3153del (p.Gly1052AlafsTer23) c.2100del (p.Gly701AlafsTer23) c.2946del (p.Gly983AlafsTer23) c.2466del (p.Gly823AlafsTer23) | |
| 12 | g.47978110G>A | CA384540986 | COL2A1 | c.2804C>T (p.Pro935Leu) c.3011C>T (p.Pro1004Leu) n.2097C>T c.3155C>T (p.Pro1052Leu) c.3152C>T (p.Pro1051Leu) c.2099C>T (p.Pro700Leu) c.2945C>T (p.Pro982Leu) c.2465C>T (p.Pro822Leu) | |
| 12 | g.47978110G>C | CA384540988 | COL2A1 | c.2804C>G (p.Pro935Arg) c.3011C>G (p.Pro1004Arg) n.2097C>G c.3155C>G (p.Pro1052Arg) c.3152C>G (p.Pro1051Arg) c.2099C>G (p.Pro700Arg) c.2945C>G (p.Pro982Arg) c.2465C>G (p.Pro822Arg) | |
| 12 | g.47978110G>T | CA384540989 | COL2A1 | c.2804C>A (p.Pro935His) c.3011C>A (p.Pro1004His) n.2097C>A c.3155C>A (p.Pro1052His) c.3152C>A (p.Pro1051His) c.2099C>A (p.Pro700His) c.2945C>A (p.Pro982His) c.2465C>A (p.Pro822His) | |
| 12 | g.47978111G>A | CA384540995 | COL2A1 | c.2803C>T (p.Pro935Ser) c.3010C>T (p.Pro1004Ser) n.2096C>T c.3154C>T (p.Pro1052Ser) c.3151C>T (p.Pro1051Ser) c.2098C>T (p.Pro700Ser) c.2944C>T (p.Pro982Ser) c.2464C>T (p.Pro822Ser) | COSMIC COSMIC |
| 12 | g.47978111G>C | CA384540997 | COL2A1 | c.2803C>G (p.Pro935Ala) c.3010C>G (p.Pro1004Ala) n.2096C>G c.3154C>G (p.Pro1052Ala) c.3151C>G (p.Pro1051Ala) c.2098C>G (p.Pro700Ala) c.2944C>G (p.Pro982Ala) c.2464C>G (p.Pro822Ala) | |
| 12 | g.47978111G>T | CA384540992 | COL2A1 | c.2803C>A (p.Pro935Thr) c.3010C>A (p.Pro1004Thr) n.2096C>A c.3154C>A (p.Pro1052Thr) c.3151C>A (p.Pro1051Thr) c.2098C>A (p.Pro700Thr) c.2944C>A (p.Pro982Thr) c.2464C>A (p.Pro822Thr) | |
| 12 | g.47978112del | CA2739271945 | COL2A1 | c.2802del (p.Glu934AspfsTer25) c.3009del (p.Glu1003AspfsTer25) n.2095del c.3153del (p.Glu1051AspfsTer25) c.3150del (p.Glu1050AspfsTer25) c.2097del (p.Glu699AspfsTer25) c.2943del (p.Glu981AspfsTer25) c.2463del (p.Glu821AspfsTer25) | ClinVar |
| 12 | g.47978112C>A | CA384541002 | COL2A1 | c.2802G>T (p.Glu934Asp) c.3009G>T (p.Glu1003Asp) n.2095G>T c.3153G>T (p.Glu1051Asp) c.3150G>T (p.Glu1050Asp) c.2097G>T (p.Glu699Asp) c.2943G>T (p.Glu981Asp) c.2463G>T (p.Glu821Asp) | |
| 12 | g.47978112C>G | CA384541000 | COL2A1 | c.2802G>C (p.Glu934Asp) c.3009G>C (p.Glu1003Asp) n.2095G>C c.3153G>C (p.Glu1051Asp) c.3150G>C (p.Glu1050Asp) c.2097G>C (p.Glu699Asp) c.2943G>C (p.Glu981Asp) c.2463G>C (p.Glu821Asp) | |
| 12 | g.47978112C>T | CA479455584 | COL2A1 | c.2802G>A (p.Glu934=) c.3009G>A (p.Glu1003=) n.2095G>A c.3153G>A (p.Glu1051=) c.3150G>A (p.Glu1050=) c.2097G>A (p.Glu699=) c.2943G>A (p.Glu981=) c.2463G>A (p.Glu821=) | ClinVar |
| 12 | g.47978113T>A | CA384541004 | COL2A1 | c.2801A>T (p.Glu934Val) c.3008A>T (p.Glu1003Val) n.2094A>T c.3152A>T (p.Glu1051Val) c.3149A>T (p.Glu1050Val) c.2096A>T (p.Glu699Val) c.2942A>T (p.Glu981Val) c.2462A>T (p.Glu821Val) | |
| 12 | g.47978113T>C | CA6534914 | COL2A1 | c.2801A>G (p.Glu934Gly) c.3008A>G (p.Glu1003Gly) n.2094A>G c.3152A>G (p.Glu1051Gly) c.3149A>G (p.Glu1050Gly) c.2096A>G (p.Glu699Gly) c.2942A>G (p.Glu981Gly) c.2462A>G (p.Glu821Gly) | dbSNP ExAC gnomAD v2 gnomAD v4 |
| 12 | g.47978113T>G | CA384541007 | COL2A1 | c.2801A>C (p.Glu934Ala) c.3008A>C (p.Glu1003Ala) n.2094A>C c.3152A>C (p.Glu1051Ala) c.3149A>C (p.Glu1050Ala) c.2096A>C (p.Glu699Ala) c.2942A>C (p.Glu981Ala) c.2462A>C (p.Glu821Ala) | |
| 12 | g.47978113T= | CA2034476720 | COL2A1 | c.2801A= (p.Glu934=) c.3008A= (p.Glu1003=) n.2094A= c.3152A= (p.Glu1051=) c.3149A= (p.Glu1050=) c.2096A= (p.Glu699=) c.2942A= (p.Glu981=) c.2462A= (p.Glu821=) | |
| 12 | g.47978113_47978114insAGCCC | CA645570664 | COL2A1 | c.2800_2801insGGGCT (p.Glu934GlyfsTer27) c.3007_3008insGGGCT (p.Glu1003GlyfsTer27) n.2093_2094insGGGCT c.3151_3152insGGGCT (p.Glu1051GlyfsTer27) c.3148_3149insGGGCT (p.Glu1050GlyfsTer27) c.2095_2096insGGGCT (p.Glu699GlyfsTer27) c.2941_2942insGGGCT (p.Glu981GlyfsTer27) c.2461_2462insGGGCT (p.Glu821GlyfsTer27) | COSMIC COSMIC |
| 12 | g.47978114C>A | CA384541010 | COL2A1 | c.2800G>T (p.Glu934Ter) c.3007G>T (p.Glu1003Ter) n.2093G>T c.3151G>T (p.Glu1051Ter) c.3148G>T (p.Glu1050Ter) c.2095G>T (p.Glu699Ter) c.2941G>T (p.Glu981Ter) c.2461G>T (p.Glu821Ter) | |
| 12 | g.47978114C= | CA2034476721 | COL2A1 | c.2800G= (p.Glu934=) c.3007G= (p.Glu1003=) n.2093G= c.3151G= (p.Glu1051=) c.3148G= (p.Glu1050=) c.2095G= (p.Glu699=) c.2941G= (p.Glu981=) c.2461G= (p.Glu821=) | |
| 12 | g.47978114C>G | CA384541012 | COL2A1 | c.2800G>C (p.Glu934Gln) c.3007G>C (p.Glu1003Gln) n.2093G>C c.3151G>C (p.Glu1051Gln) c.3148G>C (p.Glu1050Gln) c.2095G>C (p.Glu699Gln) c.2941G>C (p.Glu981Gln) c.2461G>C (p.Glu821Gln) | |
| 12 | g.47978114C>T | CA6534915 | COL2A1 | c.2800G>A (p.Glu934Lys) c.3007G>A (p.Glu1003Lys) n.2093G>A c.3151G>A (p.Glu1051Lys) c.3148G>A (p.Glu1050Lys) c.2095G>A (p.Glu699Lys) c.2941G>A (p.Glu981Lys) c.2461G>A (p.Glu821Lys) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978115A>C | CA479455606 | COL2A1 | c.2799T>G (p.Gly933=) c.3006T>G (p.Gly1002=) n.2092T>G c.3150T>G (p.Gly1050=) c.3147T>G (p.Gly1049=) c.2094T>G (p.Gly698=) c.2940T>G (p.Gly980=) c.2460T>G (p.Gly820=) | |
| 12 | g.47978115A>G | CA479455609 | COL2A1 | c.2799T>C (p.Gly933=) c.3006T>C (p.Gly1002=) n.2092T>C c.3150T>C (p.Gly1050=) c.3147T>C (p.Gly1049=) c.2094T>C (p.Gly698=) c.2940T>C (p.Gly980=) c.2460T>C (p.Gly820=) | gnomAD v4 |
| 12 | g.47978115A>T | CA479455613 | COL2A1 | c.2799T>A (p.Gly933=) c.3006T>A (p.Gly1002=) n.2092T>A c.3150T>A (p.Gly1050=) c.3147T>A (p.Gly1049=) c.2094T>A (p.Gly698=) c.2940T>A (p.Gly980=) c.2460T>A (p.Gly820=) | |
| 12 | g.47978116C>A | CA384541015 | COL2A1 | c.2798G>T (p.Gly933Val) c.3005G>T (p.Gly1002Val) n.2091G>T c.3149G>T (p.Gly1050Val) c.3146G>T (p.Gly1049Val) c.2093G>T (p.Gly698Val) c.2939G>T (p.Gly980Val) c.2459G>T (p.Gly820Val) | |
| 12 | g.47978116C>G | CA384541017 | COL2A1 | c.2798G>C (p.Gly933Ala) c.3005G>C (p.Gly1002Ala) n.2091G>C c.3149G>C (p.Gly1050Ala) c.3146G>C (p.Gly1049Ala) c.2093G>C (p.Gly698Ala) c.2939G>C (p.Gly980Ala) c.2459G>C (p.Gly820Ala) | |
| 12 | g.47978116C>T | CA384541019 | COL2A1 | c.2798G>A (p.Gly933Asp) c.3005G>A (p.Gly1002Asp) n.2091G>A c.3149G>A (p.Gly1050Asp) c.3146G>A (p.Gly1049Asp) c.2093G>A (p.Gly698Asp) c.2939G>A (p.Gly980Asp) c.2459G>A (p.Gly820Asp) | |
| 12 | g.47978117C>A | CA384541022 | COL2A1 | c.2797G>T (p.Gly933Cys) c.3004G>T (p.Gly1002Cys) n.2090G>T c.3148G>T (p.Gly1050Cys) c.3145G>T (p.Gly1049Cys) c.2092G>T (p.Gly698Cys) c.2938G>T (p.Gly980Cys) c.2458G>T (p.Gly820Cys) | |
| 12 | g.47978117C= | CA2034476722 | COL2A1 | c.2797G= (p.Gly933=) c.3004G= (p.Gly1002=) n.2090G= c.3148G= (p.Gly1050=) c.3145G= (p.Gly1049=) c.2092G= (p.Gly698=) c.2938G= (p.Gly980=) c.2458G= (p.Gly820=) | |
| 12 | g.47978117C>G | CA384541024 | COL2A1 | c.2797G>C (p.Gly933Arg) c.3004G>C (p.Gly1002Arg) n.2090G>C c.3148G>C (p.Gly1050Arg) c.3145G>C (p.Gly1049Arg) c.2092G>C (p.Gly698Arg) c.2938G>C (p.Gly980Arg) c.2458G>C (p.Gly820Arg) |