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.47978003T>G | CA2618499347 | COL2A1 | c.2904+7A>C (n.2904+7A>C) c.3111+7A>C (n.3111+7A>C) n.2197+7A>C c.3255+7A>C (n.3255+7A>C) c.3252+7A>C (n.3252+7A>C) c.2199+7A>C (n.2199+7A>C) c.3045+7A>C (n.3045+7A>C) c.2565+7A>C (n.2565+7A>C) | gnomAD v4 |
| 12 | g.47978004G= | CA2034476683 | COL2A1 | c.2904+6C= (n.2904+6C=) c.3111+6C= (n.3111+6C=) n.2197+6C= c.3255+6C= (n.3255+6C=) c.3252+6C= (n.3252+6C=) c.2199+6C= (n.2199+6C=) c.3045+6C= (n.3045+6C=) c.2565+6C= (n.2565+6C=) | |
| 12 | g.47978004G>T | CA689437086 | COL2A1 | c.2904+6C>A (n.2904+6C>A) c.3111+6C>A (n.3111+6C>A) n.2197+6C>A c.3255+6C>A (n.3255+6C>A) c.3252+6C>A (n.3252+6C>A) c.2199+6C>A (n.2199+6C>A) c.3045+6C>A (n.3045+6C>A) c.2565+6C>A (n.2565+6C>A) | dbSNP gnomAD v4 |
| 12 | g.47978005C= | CA2034476684 | COL2A1 | c.2904+5G= (n.2904+5G=) c.3111+5G= (n.3111+5G=) n.2197+5G= c.3255+5G= (n.3255+5G=) c.3252+5G= (n.3252+5G=) c.2199+5G= (n.2199+5G=) c.3045+5G= (n.3045+5G=) c.2565+5G= (n.2565+5G=) | |
| 12 | g.47978005C>G | CA604848821 | COL2A1 | c.2904+5G>C (n.2904+5G>C) c.3111+5G>C (n.3111+5G>C) n.2197+5G>C c.3255+5G>C (n.3255+5G>C) c.3252+5G>C (n.3252+5G>C) c.2199+5G>C (n.2199+5G>C) c.3045+5G>C (n.3045+5G>C) c.2565+5G>C (n.2565+5G>C) | dbSNP gnomAD v2 |
| 12 | g.47978005C>T | CA604848823 | COL2A1 | c.2904+5G>A (n.2904+5G>A) c.3111+5G>A (n.3111+5G>A) n.2197+5G>A c.3255+5G>A (n.3255+5G>A) c.3252+5G>A (n.3252+5G>A) c.2199+5G>A (n.2199+5G>A) c.3045+5G>A (n.3045+5G>A) c.2565+5G>A (n.2565+5G>A) | ClinVar dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978008A= | CA2034476685 | COL2A1 | c.2904+2T= (n.2904+2T=) c.3111+2T= (n.3111+2T=) n.2197+2T= c.3255+2T= (n.3255+2T=) c.3252+2T= (n.3252+2T=) c.2199+2T= (n.2199+2T=) c.3045+2T= (n.3045+2T=) c.2565+2T= (n.2565+2T=) | |
| 12 | g.47978008A>C | CA384540604 | COL2A1 | c.2904+2T>G (n.2904+2T>G) c.3111+2T>G (n.3111+2T>G) n.2197+2T>G c.3255+2T>G (n.3255+2T>G) c.3252+2T>G (n.3252+2T>G) c.2199+2T>G (n.2199+2T>G) c.3045+2T>G (n.3045+2T>G) c.2565+2T>G (n.2565+2T>G) | |
| 12 | g.47978008A>G | CA384540605 | COL2A1 | c.2904+2T>C (n.2904+2T>C) c.3111+2T>C (n.3111+2T>C) n.2197+2T>C c.3255+2T>C (n.3255+2T>C) c.3252+2T>C (n.3252+2T>C) c.2199+2T>C (n.2199+2T>C) c.3045+2T>C (n.3045+2T>C) c.2565+2T>C (n.2565+2T>C) | ClinVar dbSNP |
| 12 | g.47978008A>T | CA384540606 | COL2A1 | c.2904+2T>A (n.2904+2T>A) c.3111+2T>A (n.3111+2T>A) n.2197+2T>A c.3255+2T>A (n.3255+2T>A) c.3252+2T>A (n.3252+2T>A) c.2199+2T>A (n.2199+2T>A) c.3045+2T>A (n.3045+2T>A) c.2565+2T>A (n.2565+2T>A) | ClinVar |
| 12 | g.47978009C>A | CA384540609 | COL2A1 | c.2904+1G>T (n.2904+1G>T) c.3111+1G>T (n.3111+1G>T) n.2197+1G>T c.3255+1G>T (n.3255+1G>T) c.3252+1G>T (n.3252+1G>T) c.2199+1G>T (n.2199+1G>T) c.3045+1G>T (n.3045+1G>T) c.2565+1G>T (n.2565+1G>T) | ClinVar |
| 12 | g.47978009C>G | CA384540608 | COL2A1 | c.2904+1G>C (n.2904+1G>C) c.3111+1G>C (n.3111+1G>C) n.2197+1G>C c.3255+1G>C (n.3255+1G>C) c.3252+1G>C (n.3252+1G>C) c.2199+1G>C (n.2199+1G>C) c.3045+1G>C (n.3045+1G>C) c.2565+1G>C (n.2565+1G>C) | |
| 12 | g.47978009C>T | CA384540607 | COL2A1 | c.2904+1G>A (n.2904+1G>A) c.3111+1G>A (n.3111+1G>A) n.2197+1G>A c.3255+1G>A (n.3255+1G>A) c.3252+1G>A (n.3252+1G>A) c.2199+1G>A (n.2199+1G>A) c.3045+1G>A (n.3045+1G>A) c.2565+1G>A (n.2565+1G>A) | |
| 12 | g.47978010C>A | CA384540610 | COL2A1 | c.2904G>T (p.Glu968Asp) c.3111G>T (p.Glu1037Asp) n.2197G>T c.3255G>T (p.Glu1085Asp) c.3252G>T (p.Glu1084Asp) c.2199G>T (p.Glu733Asp) c.3045G>T (p.Glu1015Asp) c.2565G>T (p.Glu855Asp) | |
| 12 | g.47978010C= | CA2034476686 | COL2A1 | c.2904G= (p.Glu968=) c.3111G= (p.Glu1037=) n.2197G= c.3255G= (p.Glu1085=) c.3252G= (p.Glu1084=) c.2199G= (p.Glu733=) c.3045G= (p.Glu1015=) c.2565G= (p.Glu855=) | |
| 12 | g.47978010C>G | CA384540611 | COL2A1 | c.2904G>C (p.Glu968Asp) c.3111G>C (p.Glu1037Asp) n.2197G>C c.3255G>C (p.Glu1085Asp) c.3252G>C (p.Glu1084Asp) c.2199G>C (p.Glu733Asp) c.3045G>C (p.Glu1015Asp) c.2565G>C (p.Glu855Asp) | |
| 12 | g.47978010C>T | CA479454930 | COL2A1 | c.2904G>A (p.Glu968=) c.3111G>A (p.Glu1037=) n.2197G>A c.3255G>A (p.Glu1085=) c.3252G>A (p.Glu1084=) c.2199G>A (p.Glu733=) c.3045G>A (p.Glu1015=) c.2565G>A (p.Glu855=) | dbSNP gnomAD v4 |
| 12 | g.47978011T>A | CA384540612 | COL2A1 | c.2903A>T (p.Glu968Val) c.3110A>T (p.Glu1037Val) n.2196A>T c.3254A>T (p.Glu1085Val) c.3251A>T (p.Glu1084Val) c.2198A>T (p.Glu733Val) c.3044A>T (p.Glu1015Val) c.2564A>T (p.Glu855Val) | |
| 12 | g.47978011T>C | CA384540613 | COL2A1 | c.2903A>G (p.Glu968Gly) c.3110A>G (p.Glu1037Gly) n.2196A>G c.3254A>G (p.Glu1085Gly) c.3251A>G (p.Glu1084Gly) c.2198A>G (p.Glu733Gly) c.3044A>G (p.Glu1015Gly) c.2564A>G (p.Glu855Gly) | |
| 12 | g.47978011T>G | CA384540614 | COL2A1 | c.2903A>C (p.Glu968Ala) c.3110A>C (p.Glu1037Ala) n.2196A>C c.3254A>C (p.Glu1085Ala) c.3251A>C (p.Glu1084Ala) c.2198A>C (p.Glu733Ala) c.3044A>C (p.Glu1015Ala) c.2564A>C (p.Glu855Ala) | |
| 12 | g.47978012C>A | CA384540615 | COL2A1 | c.2902G>T (p.Glu968Ter) c.3109G>T (p.Glu1037Ter) n.2195G>T c.3253G>T (p.Glu1085Ter) c.3250G>T (p.Glu1084Ter) c.2197G>T (p.Glu733Ter) c.3043G>T (p.Glu1015Ter) c.2563G>T (p.Glu855Ter) | |
| 12 | g.47978012C>G | CA384540616 | COL2A1 | c.2902G>C (p.Glu968Gln) c.3109G>C (p.Glu1037Gln) n.2195G>C c.3253G>C (p.Glu1085Gln) c.3250G>C (p.Glu1084Gln) c.2197G>C (p.Glu733Gln) c.3043G>C (p.Glu1015Gln) c.2563G>C (p.Glu855Gln) | |
| 12 | g.47978012C>T | CA384540617 | COL2A1 | c.2902G>A (p.Glu968Lys) c.3109G>A (p.Glu1037Lys) n.2195G>A c.3253G>A (p.Glu1085Lys) c.3250G>A (p.Glu1084Lys) c.2197G>A (p.Glu733Lys) c.3043G>A (p.Glu1015Lys) c.2563G>A (p.Glu855Lys) | |
| 12 | g.47978013T>A | CA479454938 | COL2A1 | c.2901A>T (p.Arg967=) c.3108A>T (p.Arg1036=) n.2194A>T c.3252A>T (p.Arg1084=) c.3249A>T (p.Arg1083=) c.2196A>T (p.Arg732=) c.3042A>T (p.Arg1014=) c.2562A>T (p.Arg854=) | |
| 12 | g.47978013T>C | CA479454940 | COL2A1 | c.2901A>G (p.Arg967=) c.3108A>G (p.Arg1036=) n.2194A>G c.3252A>G (p.Arg1084=) c.3249A>G (p.Arg1083=) c.2196A>G (p.Arg732=) c.3042A>G (p.Arg1014=) c.2562A>G (p.Arg854=) | |
| 12 | g.47978013T>G | CA479454942 | COL2A1 | c.2901A>C (p.Arg967=) c.3108A>C (p.Arg1036=) n.2194A>C c.3252A>C (p.Arg1084=) c.3249A>C (p.Arg1083=) c.2196A>C (p.Arg732=) c.3042A>C (p.Arg1014=) c.2562A>C (p.Arg854=) | |
| 12 | g.47978014C>A | CA384540618 | COL2A1 | c.2900G>T (p.Arg967Leu) c.3107G>T (p.Arg1036Leu) n.2193G>T c.3251G>T (p.Arg1084Leu) c.3248G>T (p.Arg1083Leu) c.2195G>T (p.Arg732Leu) c.3041G>T (p.Arg1014Leu) c.2561G>T (p.Arg854Leu) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47978014C= | CA2034476687 | COL2A1 | c.2900G= (p.Arg967=) c.3107G= (p.Arg1036=) n.2193G= c.3251G= (p.Arg1084=) c.3248G= (p.Arg1083=) c.2195G= (p.Arg732=) c.3041G= (p.Arg1014=) c.2561G= (p.Arg854=) | |
| 12 | g.47978014C>G | CA384540619 | COL2A1 | c.2900G>C (p.Arg967Pro) c.3107G>C (p.Arg1036Pro) n.2193G>C c.3251G>C (p.Arg1084Pro) c.3248G>C (p.Arg1083Pro) c.2195G>C (p.Arg732Pro) c.3041G>C (p.Arg1014Pro) c.2561G>C (p.Arg854Pro) | |
| 12 | g.47978014C>T | CA6534898 | COL2A1 | c.2900G>A (p.Arg967Gln) c.3107G>A (p.Arg1036Gln) n.2193G>A c.3251G>A (p.Arg1084Gln) c.3248G>A (p.Arg1083Gln) c.2195G>A (p.Arg732Gln) c.3041G>A (p.Arg1014Gln) c.2561G>A (p.Arg854Gln) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978015G>A | CA303000 | COL2A1 | c.2899C>T (p.Arg967Ter) c.3106C>T (p.Arg1036Ter) n.2192C>T c.3250C>T (p.Arg1084Ter) c.3247C>T (p.Arg1083Ter) c.2194C>T (p.Arg732Ter) c.3040C>T (p.Arg1014Ter) c.2560C>T (p.Arg854Ter) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 COSMIC COSMIC |
| 12 | g.47978015G>C | CA6534899 | COL2A1 | c.2899C>G (p.Arg967Gly) c.3106C>G (p.Arg1036Gly) n.2192C>G c.3250C>G (p.Arg1084Gly) c.3247C>G (p.Arg1083Gly) c.2194C>G (p.Arg732Gly) c.3040C>G (p.Arg1014Gly) c.2560C>G (p.Arg854Gly) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978015G= | CA2034476688 | COL2A1 | c.2899C= (p.Arg967=) c.3106C= (p.Arg1036=) n.2192C= c.3250C= (p.Arg1084=) c.3247C= (p.Arg1083=) c.2194C= (p.Arg732=) c.3040C= (p.Arg1014=) c.2560C= (p.Arg854=) | |
| 12 | g.47978015G>T | CA479454950 | COL2A1 | c.2899C>A (p.Arg967=) c.3106C>A (p.Arg1036=) n.2192C>A c.3250C>A (p.Arg1084=) c.3247C>A (p.Arg1083=) c.2194C>A (p.Arg732=) c.3040C>A (p.Arg1014=) c.2560C>A (p.Arg854=) | |
| 12 | g.47978016T>A | CA479454952 | COL2A1 | c.2898A>T (p.Gly966=) c.3105A>T (p.Gly1035=) n.2191A>T c.3249A>T (p.Gly1083=) c.3246A>T (p.Gly1082=) c.2193A>T (p.Gly731=) c.3039A>T (p.Gly1013=) c.2559A>T (p.Gly853=) | |
| 12 | g.47978016T>C | CA479454954 | COL2A1 | c.2898A>G (p.Gly966=) c.3105A>G (p.Gly1035=) n.2191A>G c.3249A>G (p.Gly1083=) c.3246A>G (p.Gly1082=) c.2193A>G (p.Gly731=) c.3039A>G (p.Gly1013=) c.2559A>G (p.Gly853=) | gnomAD v4 |
| 12 | g.47978016T>G | CA479454956 | COL2A1 | c.2898A>C (p.Gly966=) c.3105A>C (p.Gly1035=) n.2191A>C c.3249A>C (p.Gly1083=) c.3246A>C (p.Gly1082=) c.2193A>C (p.Gly731=) c.3039A>C (p.Gly1013=) c.2559A>C (p.Gly853=) | |
| 12 | g.47978017C>A | CA384540622 | COL2A1 | c.2897G>T (p.Gly966Val) c.3104G>T (p.Gly1035Val) n.2190G>T c.3248G>T (p.Gly1083Val) c.3245G>T (p.Gly1082Val) c.2192G>T (p.Gly731Val) c.3038G>T (p.Gly1013Val) c.2558G>T (p.Gly853Val) | |
| 12 | g.47978017C>G | CA384540620 | COL2A1 | c.2897G>C (p.Gly966Ala) c.3104G>C (p.Gly1035Ala) n.2190G>C c.3248G>C (p.Gly1083Ala) c.3245G>C (p.Gly1082Ala) c.2192G>C (p.Gly731Ala) c.3038G>C (p.Gly1013Ala) c.2558G>C (p.Gly853Ala) | |
| 12 | g.47978017C>T | CA384540621 | COL2A1 | c.2897G>A (p.Gly966Glu) c.3104G>A (p.Gly1035Glu) n.2190G>A c.3248G>A (p.Gly1083Glu) c.3245G>A (p.Gly1082Glu) c.2192G>A (p.Gly731Glu) c.3038G>A (p.Gly1013Glu) c.2558G>A (p.Gly853Glu) | |
| 12 | g.47978018C>A | CA384540623 | COL2A1 | c.2896G>T (p.Gly966Ter) c.3103G>T (p.Gly1035Ter) n.2189G>T c.3247G>T (p.Gly1083Ter) c.3244G>T (p.Gly1082Ter) c.2191G>T (p.Gly731Ter) c.3037G>T (p.Gly1013Ter) c.2557G>T (p.Gly853Ter) | |
| 12 | g.47978018C>G | CA384540624 | COL2A1 | c.2896G>C (p.Gly966Arg) c.3103G>C (p.Gly1035Arg) n.2189G>C c.3247G>C (p.Gly1083Arg) c.3244G>C (p.Gly1082Arg) c.2191G>C (p.Gly731Arg) c.3037G>C (p.Gly1013Arg) c.2557G>C (p.Gly853Arg) | |
| 12 | g.47978018C>T | CA384540625 | COL2A1 | c.2896G>A (p.Gly966Arg) c.3103G>A (p.Gly1035Arg) n.2189G>A c.3247G>A (p.Gly1083Arg) c.3244G>A (p.Gly1082Arg) c.2191G>A (p.Gly731Arg) c.3037G>A (p.Gly1013Arg) c.2557G>A (p.Gly853Arg) | |
| 12 | g.47978019A= | CA2034476689 | COL2A1 | c.2895T= (p.Pro965=) c.3102T= (p.Pro1034=) n.2188T= c.3246T= (p.Pro1082=) c.3243T= (p.Pro1081=) c.2190T= (p.Pro730=) c.3036T= (p.Pro1012=) c.2556T= (p.Pro852=) | |
| 12 | g.47978019A>C | CA479454965 | COL2A1 | c.2895T>G (p.Pro965=) c.3102T>G (p.Pro1034=) n.2188T>G c.3246T>G (p.Pro1082=) c.3243T>G (p.Pro1081=) c.2190T>G (p.Pro730=) c.3036T>G (p.Pro1012=) c.2556T>G (p.Pro852=) | |
| 12 | g.47978019A>G | CA6534900 | COL2A1 | c.2895T>C (p.Pro965=) c.3102T>C (p.Pro1034=) n.2188T>C c.3246T>C (p.Pro1082=) c.3243T>C (p.Pro1081=) c.2190T>C (p.Pro730=) c.3036T>C (p.Pro1012=) c.2556T>C (p.Pro852=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47978019A>T | CA479454968 | COL2A1 | c.2895T>A (p.Pro965=) c.3102T>A (p.Pro1034=) n.2188T>A c.3246T>A (p.Pro1082=) c.3243T>A (p.Pro1081=) c.2190T>A (p.Pro730=) c.3036T>A (p.Pro1012=) c.2556T>A (p.Pro852=) | |
| 12 | g.47978020G>A | CA384540626 | COL2A1 | c.2894C>T (p.Pro965Leu) c.3101C>T (p.Pro1034Leu) n.2187C>T c.3245C>T (p.Pro1082Leu) c.3242C>T (p.Pro1081Leu) c.2189C>T (p.Pro730Leu) c.3035C>T (p.Pro1012Leu) c.2555C>T (p.Pro852Leu) | |
| 12 | g.47978020G>C | CA384540627 | COL2A1 | c.2894C>G (p.Pro965Arg) c.3101C>G (p.Pro1034Arg) n.2187C>G c.3245C>G (p.Pro1082Arg) c.3242C>G (p.Pro1081Arg) c.2189C>G (p.Pro730Arg) c.3035C>G (p.Pro1012Arg) c.2555C>G (p.Pro852Arg) | |
| 12 | g.47978020G>T | CA384540628 | COL2A1 | c.2894C>A (p.Pro965His) c.3101C>A (p.Pro1034His) n.2187C>A c.3245C>A (p.Pro1082His) c.3242C>A (p.Pro1081His) c.2189C>A (p.Pro730His) c.3035C>A (p.Pro1012His) c.2555C>A (p.Pro852His) |