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.47995889G>A | CA384523874 | COL2A1 | c.433C>T (p.Pro145Ser) c.640C>T (p.Pro214Ser) c.784C>T (p.Pro262Ser) c.781C>T (p.Pro261Ser) c.574C>T (p.Pro192Ser) c.94C>T (p.Pro32Ser) | |
| 12 | g.47995889G>C | CA384523875 | COL2A1 | c.433C>G (p.Pro145Ala) c.640C>G (p.Pro214Ala) c.784C>G (p.Pro262Ala) c.781C>G (p.Pro261Ala) c.574C>G (p.Pro192Ala) c.94C>G (p.Pro32Ala) | |
| 12 | g.47995889G>T | CA384523877 | COL2A1 | c.433C>A (p.Pro145Thr) c.640C>A (p.Pro214Thr) c.784C>A (p.Pro262Thr) c.781C>A (p.Pro261Thr) c.574C>A (p.Pro192Thr) c.94C>A (p.Pro32Thr) | |
| 12 | g.47995890G>A | CA236491739 | COL2A1 | c.432C>T (p.Gly144=) c.639C>T (p.Gly213=) c.783C>T (p.Gly261=) c.780C>T (p.Gly260=) c.573C>T (p.Gly191=) c.93C>T (p.Gly31=) | dbSNP gnomAD v4 |
| 12 | g.47995890G>C | CA479442085 | COL2A1 | c.432C>G (p.Gly144=) c.639C>G (p.Gly213=) c.783C>G (p.Gly261=) c.780C>G (p.Gly260=) c.573C>G (p.Gly191=) c.93C>G (p.Gly31=) | gnomAD v4 |
| 12 | g.47995890G= | CA2034479681 | COL2A1 | c.432C= (p.Gly144=) c.639C= (p.Gly213=) c.783C= (p.Gly261=) c.780C= (p.Gly260=) c.573C= (p.Gly191=) c.93C= (p.Gly31=) | |
| 12 | g.47995890G>T | CA479442086 | COL2A1 | c.432C>A (p.Gly144=) c.639C>A (p.Gly213=) c.783C>A (p.Gly261=) c.780C>A (p.Gly260=) c.573C>A (p.Gly191=) c.93C>A (p.Gly31=) | gnomAD v4 |
| 12 | g.47995891C>A | CA384523883 | COL2A1 | c.431G>T (p.Gly144Val) c.638G>T (p.Gly213Val) c.782G>T (p.Gly261Val) c.779G>T (p.Gly260Val) c.572G>T (p.Gly191Val) c.92G>T (p.Gly31Val) | |
| 12 | g.47995891C>G | CA384523880 | COL2A1 | c.431G>C (p.Gly144Ala) c.638G>C (p.Gly213Ala) c.782G>C (p.Gly261Ala) c.779G>C (p.Gly260Ala) c.572G>C (p.Gly191Ala) c.92G>C (p.Gly31Ala) | |
| 12 | g.47995891C>T | CA384523881 | COL2A1 | c.431G>A (p.Gly144Asp) c.638G>A (p.Gly213Asp) c.782G>A (p.Gly261Asp) c.779G>A (p.Gly260Asp) c.572G>A (p.Gly191Asp) c.92G>A (p.Gly31Asp) | ClinVar |
| 12 | g.47995892C>A | CA384523885 | COL2A1 | c.430G>T (p.Gly144Cys) c.637G>T (p.Gly213Cys) c.781G>T (p.Gly261Cys) c.778G>T (p.Gly260Cys) c.571G>T (p.Gly191Cys) c.91G>T (p.Gly31Cys) | |
| 12 | g.47995892C>G | CA384523886 | COL2A1 | c.430G>C (p.Gly144Arg) c.637G>C (p.Gly213Arg) c.781G>C (p.Gly261Arg) c.778G>C (p.Gly260Arg) c.571G>C (p.Gly191Arg) c.91G>C (p.Gly31Arg) | |
| 12 | g.47995892C>T | CA384523888 | COL2A1 | c.430G>A (p.Gly144Ser) c.637G>A (p.Gly213Ser) c.781G>A (p.Gly261Ser) c.778G>A (p.Gly260Ser) c.571G>A (p.Gly191Ser) c.91G>A (p.Gly31Ser) | |
| 12 | g.47995893T>A | CA479442087 | COL2A1 | c.429A>T (p.Pro143=) c.636A>T (p.Pro212=) c.780A>T (p.Pro260=) c.777A>T (p.Pro259=) c.570A>T (p.Pro190=) c.90A>T (p.Pro30=) | |
| 12 | g.47995893T>C | CA479442088 | COL2A1 | c.429A>G (p.Pro143=) c.636A>G (p.Pro212=) c.780A>G (p.Pro260=) c.777A>G (p.Pro259=) c.570A>G (p.Pro190=) c.90A>G (p.Pro30=) | |
| 12 | g.47995893T>G | CA479442089 | COL2A1 | c.429A>C (p.Pro143=) c.636A>C (p.Pro212=) c.780A>C (p.Pro260=) c.777A>C (p.Pro259=) c.570A>C (p.Pro190=) c.90A>C (p.Pro30=) | |
| 12 | g.47995893T= | CA2034479685 | COL2A1 | c.429A= (p.Pro143=) c.636A= (p.Pro212=) c.780A= (p.Pro260=) c.777A= (p.Pro259=) c.570A= (p.Pro190=) c.90A= (p.Pro30=) | |
| 12 | g.47995894G>A | CA384523891 | COL2A1 | c.428C>T (p.Pro143Leu) c.635C>T (p.Pro212Leu) c.779C>T (p.Pro260Leu) c.776C>T (p.Pro259Leu) c.569C>T (p.Pro190Leu) c.89C>T (p.Pro30Leu) | gnomAD v4 |
| 12 | g.47995894G>C | CA384523892 | COL2A1 | c.428C>G (p.Pro143Arg) c.635C>G (p.Pro212Arg) c.779C>G (p.Pro260Arg) c.776C>G (p.Pro259Arg) c.569C>G (p.Pro190Arg) c.89C>G (p.Pro30Arg) | gnomAD v4 |
| 12 | g.47995894G>T | CA384523894 | COL2A1 | c.428C>A (p.Pro143Gln) c.635C>A (p.Pro212Gln) c.779C>A (p.Pro260Gln) c.776C>A (p.Pro259Gln) c.569C>A (p.Pro190Gln) c.89C>A (p.Pro30Gln) | |
| 12 | g.47995895dup | CA1139662598 | COL2A1 | c.428dup (p.Gly144ArgfsTer17) c.635dup (p.Gly213ArgfsTer17) c.779dup (p.Gly261ArgfsTer17) c.776dup (p.Gly260ArgfsTer17) c.569dup (p.Gly191ArgfsTer17) c.89dup (p.Gly31ArgfsTer17) | ClinVar dbSNP |
| 12 | g.47995895G>A | CA384523896 | COL2A1 | c.427C>T (p.Pro143Ser) c.634C>T (p.Pro212Ser) c.778C>T (p.Pro260Ser) c.775C>T (p.Pro259Ser) c.568C>T (p.Pro190Ser) c.88C>T (p.Pro30Ser) | |
| 12 | g.47995895G>C | CA384523898 | COL2A1 | c.427C>G (p.Pro143Ala) c.634C>G (p.Pro212Ala) c.778C>G (p.Pro260Ala) c.775C>G (p.Pro259Ala) c.568C>G (p.Pro190Ala) c.88C>G (p.Pro30Ala) | gnomAD v4 |
| 12 | g.47995895G>T | CA384523900 | COL2A1 | c.427C>A (p.Pro143Thr) c.634C>A (p.Pro212Thr) c.778C>A (p.Pro260Thr) c.775C>A (p.Pro259Thr) c.568C>A (p.Pro190Thr) c.88C>A (p.Pro30Thr) | |
| 12 | g.47995902_47995910del | CA2618516297 | COL2A1 | c.419_427del (p.Arg140_Pro142del) c.626_634del (p.Arg209_Pro211del) c.770_778del (p.Arg257_Pro259del) c.767_775del (p.Arg256_Pro258del) c.560_568del (p.Arg187_Pro189del) c.80_88del (p.Arg27_Pro29del) | gnomAD v4 |
| 12 | g.47995896A>C | CA479442090 | COL2A1 | c.426T>G (p.Pro142=) c.633T>G (p.Pro211=) c.777T>G (p.Pro259=) c.774T>G (p.Pro258=) c.567T>G (p.Pro189=) c.87T>G (p.Pro29=) | |
| 12 | g.47995896A>G | CA479442091 | COL2A1 | c.426T>C (p.Pro142=) c.633T>C (p.Pro211=) c.777T>C (p.Pro259=) c.774T>C (p.Pro258=) c.567T>C (p.Pro189=) c.87T>C (p.Pro29=) | |
| 12 | g.47995896A>T | CA479442092 | COL2A1 | c.426T>A (p.Pro142=) c.633T>A (p.Pro211=) c.777T>A (p.Pro259=) c.774T>A (p.Pro258=) c.567T>A (p.Pro189=) c.87T>A (p.Pro29=) | |
| 12 | g.47995897G>A | CA384523902 | COL2A1 | c.425C>T (p.Pro142Leu) c.632C>T (p.Pro211Leu) c.776C>T (p.Pro259Leu) c.773C>T (p.Pro258Leu) c.566C>T (p.Pro189Leu) c.86C>T (p.Pro29Leu) | |
| 12 | g.47995897G>C | CA384523903 | COL2A1 | c.425C>G (p.Pro142Arg) c.632C>G (p.Pro211Arg) c.776C>G (p.Pro259Arg) c.773C>G (p.Pro258Arg) c.566C>G (p.Pro189Arg) c.86C>G (p.Pro29Arg) | |
| 12 | g.47995897G>T | CA384523905 | COL2A1 | c.425C>A (p.Pro142His) c.632C>A (p.Pro211His) c.776C>A (p.Pro259His) c.773C>A (p.Pro258His) c.566C>A (p.Pro189His) c.86C>A (p.Pro29His) | |
| 12 | g.47995898G>A | CA384523909 | COL2A1 | c.424C>T (p.Pro142Ser) c.631C>T (p.Pro211Ser) c.775C>T (p.Pro259Ser) c.772C>T (p.Pro258Ser) c.565C>T (p.Pro189Ser) c.85C>T (p.Pro29Ser) | ClinVar dbSNP gnomAD v4 |
| 12 | g.47995898G>C | CA384523911 | COL2A1 | c.424C>G (p.Pro142Ala) c.631C>G (p.Pro211Ala) c.775C>G (p.Pro259Ala) c.772C>G (p.Pro258Ala) c.565C>G (p.Pro189Ala) c.85C>G (p.Pro29Ala) | |
| 12 | g.47995898G= | CA2034479693 | COL2A1 | c.424C= (p.Pro142=) c.631C= (p.Pro211=) c.775C= (p.Pro259=) c.772C= (p.Pro258=) c.565C= (p.Pro189=) c.85C= (p.Pro29=) | |
| 12 | g.47995898G>T | CA384523908 | COL2A1 | c.424C>A (p.Pro142Thr) c.631C>A (p.Pro211Thr) c.775C>A (p.Pro259Thr) c.772C>A (p.Pro258Thr) c.565C>A (p.Pro189Thr) c.85C>A (p.Pro29Thr) | |
| 12 | g.47995899T>A | CA479442093 | COL2A1 | c.423A>T (p.Gly141=) c.630A>T (p.Gly210=) c.774A>T (p.Gly258=) c.771A>T (p.Gly257=) c.564A>T (p.Gly188=) c.84A>T (p.Gly28=) | |
| 12 | g.47995899T>C | CA479442094 | COL2A1 | c.423A>G (p.Gly141=) c.630A>G (p.Gly210=) c.774A>G (p.Gly258=) c.771A>G (p.Gly257=) c.564A>G (p.Gly188=) c.84A>G (p.Gly28=) | |
| 12 | g.47995899T>G | CA479442095 | COL2A1 | c.423A>C (p.Gly141=) c.630A>C (p.Gly210=) c.774A>C (p.Gly258=) c.771A>C (p.Gly257=) c.564A>C (p.Gly188=) c.84A>C (p.Gly28=) | |
| 12 | g.47995900C>A | CA384523915 | COL2A1 | c.422G>T (p.Gly141Val) c.629G>T (p.Gly210Val) c.773G>T (p.Gly258Val) c.770G>T (p.Gly257Val) c.563G>T (p.Gly188Val) c.83G>T (p.Gly28Val) | |
| 12 | g.47995900C>G | CA384523913 | COL2A1 | c.422G>C (p.Gly141Ala) c.629G>C (p.Gly210Ala) c.773G>C (p.Gly258Ala) c.770G>C (p.Gly257Ala) c.563G>C (p.Gly188Ala) c.83G>C (p.Gly28Ala) | |
| 12 | g.47995900C>T | CA384523917 | COL2A1 | c.422G>A (p.Gly141Glu) c.629G>A (p.Gly210Glu) c.773G>A (p.Gly258Glu) c.770G>A (p.Gly257Glu) c.563G>A (p.Gly188Glu) c.83G>A (p.Gly28Glu) | |
| 12 | g.47995901C>A | CA384523919 | COL2A1 | c.421G>T (p.Gly141Ter) c.628G>T (p.Gly210Ter) c.772G>T (p.Gly258Ter) c.769G>T (p.Gly257Ter) c.562G>T (p.Gly188Ter) c.82G>T (p.Gly28Ter) | |
| 12 | g.47995901C>G | CA384523923 | COL2A1 | c.421G>C (p.Gly141Arg) c.628G>C (p.Gly210Arg) c.772G>C (p.Gly258Arg) c.769G>C (p.Gly257Arg) c.562G>C (p.Gly188Arg) c.82G>C (p.Gly28Arg) | |
| 12 | g.47995901C>T | CA384523921 | COL2A1 | c.421G>A (p.Gly141Arg) c.628G>A (p.Gly210Arg) c.772G>A (p.Gly258Arg) c.769G>A (p.Gly257Arg) c.562G>A (p.Gly188Arg) c.82G>A (p.Gly28Arg) | ClinVar |
| 12 | g.47995902T>A | CA479442096 | COL2A1 | c.420A>T (p.Arg140=) c.627A>T (p.Arg209=) c.771A>T (p.Arg257=) c.768A>T (p.Arg256=) c.561A>T (p.Arg187=) c.81A>T (p.Arg27=) | |
| 12 | g.47995902T>C | CA479442098 | COL2A1 | c.420A>G (p.Arg140=) c.627A>G (p.Arg209=) c.771A>G (p.Arg257=) c.768A>G (p.Arg256=) c.561A>G (p.Arg187=) c.81A>G (p.Arg27=) | ClinVar |
| 12 | g.47995902T>G | CA479442097 | COL2A1 | c.420A>C (p.Arg140=) c.627A>C (p.Arg209=) c.771A>C (p.Arg257=) c.768A>C (p.Arg256=) c.561A>C (p.Arg187=) c.81A>C (p.Arg27=) | |
| 12 | g.47995903C>A | CA384523925 | COL2A1 | c.419G>T (p.Arg140Leu) c.626G>T (p.Arg209Leu) c.770G>T (p.Arg257Leu) c.767G>T (p.Arg256Leu) c.560G>T (p.Arg187Leu) c.80G>T (p.Arg27Leu) | |
| 12 | g.47995903C>G | CA384523927 | COL2A1 | c.419G>C (p.Arg140Pro) c.626G>C (p.Arg209Pro) c.770G>C (p.Arg257Pro) c.767G>C (p.Arg256Pro) c.560G>C (p.Arg187Pro) c.80G>C (p.Arg27Pro) | |
| 12 | g.47995903C>T | CA384523929 | COL2A1 | c.419G>A (p.Arg140Gln) c.626G>A (p.Arg209Gln) c.770G>A (p.Arg257Gln) c.767G>A (p.Arg256Gln) c.560G>A (p.Arg187Gln) c.80G>A (p.Arg27Gln) | ClinVar dbSNP gnomAD v4 |