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.47995714_47995723delinsACACCAGGTT | CA2034479488 | COL2A1 | c.488_497delinsAACCTGGTGT (p.Glu163=) c.695_704delinsAACCTGGTGT (p.Glu232=) c.839_848delinsAACCTGGTGT (p.Glu280=) c.836_845delinsAACCTGGTGT (p.Glu279=) c.629_638delinsAACCTGGTGT (p.Glu210=) c.149_158delinsAACCTGGTGT (p.Glu50=) | |
| 12 | g.47995731_47995739dup | CA2618516022 | COL2A1 | c.488_496dup (p.Gly165_Val166insGluProGly) c.695_703dup (p.Gly234_Val235insGluProGly) c.839_847dup (p.Gly282_Val283insGluProGly) c.836_844dup (p.Gly281_Val282insGluProGly) c.629_637dup (p.Gly212_Val213insGluProGly) c.149_157dup (p.Gly52_Val53insGluProGly) | ClinVar gnomAD v4 |
| 12 | g.47995731_47995739del | CA6535840 | COL2A1 | c.488_496del (p.Glu163_Gly165del) c.695_703del (p.Glu232_Gly234del) c.839_847del (p.Glu280_Gly282del) c.836_844del (p.Glu279_Gly281del) c.629_637del (p.Glu210_Gly212del) c.149_157del (p.Glu50_Gly52del) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 12 | g.47995720G>A | CA384523636 | COL2A1 | c.491C>T (p.Pro164Leu) c.698C>T (p.Pro233Leu) c.842C>T (p.Pro281Leu) c.839C>T (p.Pro280Leu) c.632C>T (p.Pro211Leu) c.152C>T (p.Pro51Leu) | |
| 12 | g.47995720G>C | CA384523638 | COL2A1 | c.491C>G (p.Pro164Arg) c.698C>G (p.Pro233Arg) c.842C>G (p.Pro281Arg) c.839C>G (p.Pro280Arg) c.632C>G (p.Pro211Arg) c.152C>G (p.Pro51Arg) | |
| 12 | g.47995720G>T | CA384523639 | COL2A1 | c.491C>A (p.Pro164His) c.698C>A (p.Pro233His) c.842C>A (p.Pro281His) c.839C>A (p.Pro280His) c.632C>A (p.Pro211His) c.152C>A (p.Pro51His) | |
| 12 | g.47995721G>A | CA384523641 | COL2A1 | c.490C>T (p.Pro164Ser) c.697C>T (p.Pro233Ser) c.841C>T (p.Pro281Ser) c.838C>T (p.Pro280Ser) c.631C>T (p.Pro211Ser) c.151C>T (p.Pro51Ser) | gnomAD v4 |
| 12 | g.47995721G>C | CA384523643 | COL2A1 | c.490C>G (p.Pro164Ala) c.697C>G (p.Pro233Ala) c.841C>G (p.Pro281Ala) c.838C>G (p.Pro280Ala) c.631C>G (p.Pro211Ala) c.151C>G (p.Pro51Ala) | |
| 12 | g.47995721G>T | CA384523645 | COL2A1 | c.490C>A (p.Pro164Thr) c.697C>A (p.Pro233Thr) c.841C>A (p.Pro281Thr) c.838C>A (p.Pro280Thr) c.631C>A (p.Pro211Thr) c.151C>A (p.Pro51Thr) | |
| 12 | g.47995722T>A | CA384523646 | COL2A1 | c.489A>T (p.Glu163Asp) c.696A>T (p.Glu232Asp) c.840A>T (p.Glu280Asp) c.837A>T (p.Glu279Asp) c.630A>T (p.Glu210Asp) c.150A>T (p.Glu50Asp) | |
| 12 | g.47995722T>C | CA479441996 | COL2A1 | c.489A>G (p.Glu163=) c.696A>G (p.Glu232=) c.840A>G (p.Glu280=) c.837A>G (p.Glu279=) c.630A>G (p.Glu210=) c.150A>G (p.Glu50=) | |
| 12 | g.47995722T>G | CA384523647 | COL2A1 | c.489A>C (p.Glu163Asp) c.696A>C (p.Glu232Asp) c.840A>C (p.Glu280Asp) c.837A>C (p.Glu279Asp) c.630A>C (p.Glu210Asp) c.150A>C (p.Glu50Asp) | |
| 12 | g.47995723del | CA2740097989 | COL2A1 | c.489del (p.Glu163AspfsTer?) c.696del (p.Glu232AspfsTer?) c.840del (p.Glu280AspfsTer?) c.837del (p.Glu279AspfsTer?) c.630del (p.Glu210AspfsTer?) c.150del (p.Glu50AspfsTer?) | |
| 12 | g.47995723T>A | CA384523653 | COL2A1 | c.488A>T (p.Glu163Val) c.695A>T (p.Glu232Val) c.839A>T (p.Glu280Val) c.836A>T (p.Glu279Val) c.629A>T (p.Glu210Val) c.149A>T (p.Glu50Val) | |
| 12 | g.47995723T>C | CA384523652 | COL2A1 | c.488A>G (p.Glu163Gly) c.695A>G (p.Glu232Gly) c.839A>G (p.Glu280Gly) c.836A>G (p.Glu279Gly) c.629A>G (p.Glu210Gly) c.149A>G (p.Glu50Gly) | gnomAD v4 |
| 12 | g.47995723T>G | CA384523650 | COL2A1 | c.488A>C (p.Glu163Ala) c.695A>C (p.Glu232Ala) c.839A>C (p.Glu280Ala) c.836A>C (p.Glu279Ala) c.629A>C (p.Glu210Ala) c.149A>C (p.Glu50Ala) | |
| 12 | g.47995724C>A | CA384523655 | COL2A1 | c.487G>T (p.Glu163Ter) c.694G>T (p.Glu232Ter) c.838G>T (p.Glu280Ter) c.835G>T (p.Glu279Ter) c.628G>T (p.Glu210Ter) c.148G>T (p.Glu50Ter) | |
| 12 | g.47995724C>G | CA384523657 | COL2A1 | c.487G>C (p.Glu163Gln) c.694G>C (p.Glu232Gln) c.838G>C (p.Glu280Gln) c.835G>C (p.Glu279Gln) c.628G>C (p.Glu210Gln) c.148G>C (p.Glu50Gln) | |
| 12 | g.47995724C>T | CA384523659 | COL2A1 | c.487G>A (p.Glu163Lys) c.694G>A (p.Glu232Lys) c.838G>A (p.Glu280Lys) c.835G>A (p.Glu279Lys) c.628G>A (p.Glu210Lys) c.148G>A (p.Glu50Lys) | |
| 12 | g.47995725A>C | CA479441998 | COL2A1 | c.486T>G (p.Gly162=) c.693T>G (p.Gly231=) c.837T>G (p.Gly279=) c.834T>G (p.Gly278=) c.627T>G (p.Gly209=) c.147T>G (p.Gly49=) | |
| 12 | g.47995725A>G | CA479441999 | COL2A1 | c.486T>C (p.Gly162=) c.693T>C (p.Gly231=) c.837T>C (p.Gly279=) c.834T>C (p.Gly278=) c.627T>C (p.Gly209=) c.147T>C (p.Gly49=) | |
| 12 | g.47995725A>T | CA479442001 | COL2A1 | c.486T>A (p.Gly162=) c.693T>A (p.Gly231=) c.837T>A (p.Gly279=) c.834T>A (p.Gly278=) c.627T>A (p.Gly209=) c.147T>A (p.Gly49=) | |
| 12 | g.47995726C>A | CA384523660 | COL2A1 | c.485G>T (p.Gly162Val) c.692G>T (p.Gly231Val) c.836G>T (p.Gly279Val) c.833G>T (p.Gly278Val) c.626G>T (p.Gly209Val) c.146G>T (p.Gly49Val) | |
| 12 | g.47995726C>G | CA384523661 | COL2A1 | c.485G>C (p.Gly162Ala) c.692G>C (p.Gly231Ala) c.836G>C (p.Gly279Ala) c.833G>C (p.Gly278Ala) c.626G>C (p.Gly209Ala) c.146G>C (p.Gly49Ala) | |
| 12 | g.47995726C>T | CA384523664 | COL2A1 | c.485G>A (p.Gly162Asp) c.692G>A (p.Gly231Asp) c.836G>A (p.Gly279Asp) c.833G>A (p.Gly278Asp) c.626G>A (p.Gly209Asp) c.146G>A (p.Gly49Asp) | |
| 12 | g.47995727C>A | CA384523666 | COL2A1 | c.484G>T (p.Gly162Cys) c.691G>T (p.Gly231Cys) c.835G>T (p.Gly279Cys) c.832G>T (p.Gly278Cys) c.625G>T (p.Gly209Cys) c.145G>T (p.Gly49Cys) | |
| 12 | g.47995727C>G | CA384523667 | COL2A1 | c.484G>C (p.Gly162Arg) c.691G>C (p.Gly231Arg) c.835G>C (p.Gly279Arg) c.832G>C (p.Gly278Arg) c.625G>C (p.Gly209Arg) c.145G>C (p.Gly49Arg) | |
| 12 | g.47995727C>T | CA384523669 | COL2A1 | c.484G>A (p.Gly162Ser) c.691G>A (p.Gly231Ser) c.835G>A (p.Gly279Ser) c.832G>A (p.Gly278Ser) c.625G>A (p.Gly209Ser) c.145G>A (p.Gly49Ser) | |
| 12 | g.47995728A>C | CA479442004 | COL2A1 | c.483T>G (p.Pro161=) c.690T>G (p.Pro230=) c.834T>G (p.Pro278=) c.831T>G (p.Pro277=) c.624T>G (p.Pro208=) c.144T>G (p.Pro48=) | |
| 12 | g.47995728A>G | CA479442005 | COL2A1 | c.483T>C (p.Pro161=) c.690T>C (p.Pro230=) c.834T>C (p.Pro278=) c.831T>C (p.Pro277=) c.624T>C (p.Pro208=) c.144T>C (p.Pro48=) | |
| 12 | g.47995728A>T | CA479442006 | COL2A1 | c.483T>A (p.Pro161=) c.690T>A (p.Pro230=) c.834T>A (p.Pro278=) c.831T>A (p.Pro277=) c.624T>A (p.Pro208=) c.144T>A (p.Pro48=) | |
| 12 | g.47995729G>A | CA384523671 | COL2A1 | c.482C>T (p.Pro161Leu) c.689C>T (p.Pro230Leu) c.833C>T (p.Pro278Leu) c.830C>T (p.Pro277Leu) c.623C>T (p.Pro208Leu) c.143C>T (p.Pro48Leu) | |
| 12 | g.47995729G>C | CA384523673 | COL2A1 | c.482C>G (p.Pro161Arg) c.689C>G (p.Pro230Arg) c.833C>G (p.Pro278Arg) c.830C>G (p.Pro277Arg) c.623C>G (p.Pro208Arg) c.143C>G (p.Pro48Arg) | ClinVar |
| 12 | g.47995729G>T | CA384523675 | COL2A1 | c.482C>A (p.Pro161His) c.689C>A (p.Pro230His) c.833C>A (p.Pro278His) c.830C>A (p.Pro277His) c.623C>A (p.Pro208His) c.143C>A (p.Pro48His) | |
| 12 | g.47995730G>A | CA384523680 | COL2A1 | c.481C>T (p.Pro161Ser) c.688C>T (p.Pro230Ser) c.832C>T (p.Pro278Ser) c.829C>T (p.Pro277Ser) c.622C>T (p.Pro208Ser) c.142C>T (p.Pro48Ser) | gnomAD v4 |
| 12 | g.47995730G>C | CA384523678 | COL2A1 | c.481C>G (p.Pro161Ala) c.688C>G (p.Pro230Ala) c.832C>G (p.Pro278Ala) c.829C>G (p.Pro277Ala) c.622C>G (p.Pro208Ala) c.142C>G (p.Pro48Ala) | |
| 12 | g.47995730G>T | CA384523677 | COL2A1 | c.481C>A (p.Pro161Thr) c.688C>A (p.Pro230Thr) c.832C>A (p.Pro278Thr) c.829C>A (p.Pro277Thr) c.622C>A (p.Pro208Thr) c.142C>A (p.Pro48Thr) | |
| 12 | g.47995731T>A | CA384523682 | COL2A1 | c.480A>T (p.Glu160Asp) c.687A>T (p.Glu229Asp) c.831A>T (p.Glu277Asp) c.828A>T (p.Glu276Asp) c.621A>T (p.Glu207Asp) c.141A>T (p.Glu47Asp) | |
| 12 | g.47995731T>C | CA479442008 | COL2A1 | c.480A>G (p.Glu160=) c.687A>G (p.Glu229=) c.831A>G (p.Glu277=) c.828A>G (p.Glu276=) c.621A>G (p.Glu207=) c.141A>G (p.Glu47=) | |
| 12 | g.47995731T>G | CA384523684 | COL2A1 | c.480A>C (p.Glu160Asp) c.687A>C (p.Glu229Asp) c.831A>C (p.Glu277Asp) c.828A>C (p.Glu276Asp) c.621A>C (p.Glu207Asp) c.141A>C (p.Glu47Asp) | |
| 12 | g.47995732T>A | CA384523686 | COL2A1 | c.479A>T (p.Glu160Val) c.686A>T (p.Glu229Val) c.830A>T (p.Glu277Val) c.827A>T (p.Glu276Val) c.620A>T (p.Glu207Val) c.140A>T (p.Glu47Val) | |
| 12 | g.47995732T>C | CA384523688 | COL2A1 | c.479A>G (p.Glu160Gly) c.686A>G (p.Glu229Gly) c.830A>G (p.Glu277Gly) c.827A>G (p.Glu276Gly) c.620A>G (p.Glu207Gly) c.140A>G (p.Glu47Gly) | dbSNP gnomAD v2 gnomAD v4 |
| 12 | g.47995732T>G | CA384523690 | COL2A1 | c.479A>C (p.Glu160Ala) c.686A>C (p.Glu229Ala) c.830A>C (p.Glu277Ala) c.827A>C (p.Glu276Ala) c.620A>C (p.Glu207Ala) c.140A>C (p.Glu47Ala) | |
| 12 | g.47995732T= | CA2034479499 | COL2A1 | c.479A= (p.Glu160=) c.686A= (p.Glu229=) c.830A= (p.Glu277=) c.827A= (p.Glu276=) c.620A= (p.Glu207=) c.140A= (p.Glu47=) | |
| 12 | g.47995733C>A | CA384523695 | COL2A1 | c.478G>T (p.Glu160Ter) c.685G>T (p.Glu229Ter) c.829G>T (p.Glu277Ter) c.826G>T (p.Glu276Ter) c.619G>T (p.Glu207Ter) c.139G>T (p.Glu47Ter) | |
| 12 | g.47995733C>G | CA384523693 | COL2A1 | c.478G>C (p.Glu160Gln) c.685G>C (p.Glu229Gln) c.829G>C (p.Glu277Gln) c.826G>C (p.Glu276Gln) c.619G>C (p.Glu207Gln) c.139G>C (p.Glu47Gln) | |
| 12 | g.47995733C>T | CA384523692 | COL2A1 | c.478G>A (p.Glu160Lys) c.685G>A (p.Glu229Lys) c.829G>A (p.Glu277Lys) c.826G>A (p.Glu276Lys) c.619G>A (p.Glu207Lys) c.139G>A (p.Glu47Lys) | |
| 12 | g.47995734A= | CA2034479501 | COL2A1 | c.477T= (p.Gly159=) c.684T= (p.Gly228=) c.828T= (p.Gly276=) c.825T= (p.Gly275=) c.618T= (p.Gly206=) c.138T= (p.Gly46=) | |
| 12 | g.47995734A>C | CA479442012 | COL2A1 | c.477T>G (p.Gly159=) c.684T>G (p.Gly228=) c.828T>G (p.Gly276=) c.825T>G (p.Gly275=) c.618T>G (p.Gly206=) c.138T>G (p.Gly46=) | |
| 12 | g.47995734A>G | CA479442013 | COL2A1 | c.477T>C (p.Gly159=) c.684T>C (p.Gly228=) c.828T>C (p.Gly276=) c.825T>C (p.Gly275=) c.618T>C (p.Gly206=) c.138T>C (p.Gly46=) |