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 |
|---|---|---|---|---|---|
| 1 | g.237707066A= | CA2487451334 | RYR2 | c.*733A= (n.*733A=) c.9698A= (p.His3233=) c.1887A= c.9650A= (p.His3217=) n.836A= c.9728A= (p.His3243=) c.9725A= (p.His3242=) c.9491A= (p.His3164=) c.9695A= (p.His3232=) c.9707A= (p.His3236=) | |
| 1 | g.237707066A>C | CA345408590 | RYR2 | c.*733A>C (n.*733A>C) c.9698A>C (p.His3233Pro) c.1887A>C c.9650A>C (p.His3217Pro) n.836A>C c.9728A>C (p.His3243Pro) c.9725A>C (p.His3242Pro) c.9491A>C (p.His3164Pro) c.9695A>C (p.His3232Pro) c.9707A>C (p.His3236Pro) | |
| 1 | g.237707066A>G | CA345408591 | RYR2 | c.*733A>G (n.*733A>G) c.9698A>G (p.His3233Arg) c.1887A>G c.9650A>G (p.His3217Arg) n.836A>G c.9728A>G (p.His3243Arg) c.9725A>G (p.His3242Arg) c.9491A>G (p.His3164Arg) c.9695A>G (p.His3232Arg) c.9707A>G (p.His3236Arg) | ClinVar dbSNP gnomAD v2 gnomAD v4 |
| 1 | g.237707066A>T | CA345408592 | RYR2 | c.*733A>T (n.*733A>T) c.9698A>T (p.His3233Leu) c.1887A>T c.9650A>T (p.His3217Leu) n.836A>T c.9728A>T (p.His3243Leu) c.9725A>T (p.His3242Leu) c.9491A>T (p.His3164Leu) c.9695A>T (p.His3232Leu) c.9707A>T (p.His3236Leu) | |
| 1 | g.237707067T>A | CA345408593 | RYR2 | c.*734T>A (n.*734T>A) c.9699T>A (p.His3233Gln) c.1888T>A c.9651T>A (p.His3217Gln) n.837T>A c.9729T>A (p.His3243Gln) c.9726T>A (p.His3242Gln) c.9492T>A (p.His3164Gln) c.9696T>A (p.His3232Gln) c.9708T>A (p.His3236Gln) | |
| 1 | g.237707067T>C | CA087947 | RYR2 | c.*734T>C (n.*734T>C) c.9699T>C (p.His3233=) c.1888T>C c.9651T>C (p.His3217=) n.837T>C c.9729T>C (p.His3243=) c.9726T>C (p.His3242=) c.9492T>C (p.His3164=) c.9696T>C (p.His3232=) c.9708T>C (p.His3236=) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v4 |
| 1 | g.237707067T>G | CA345408594 | RYR2 | c.*734T>G (n.*734T>G) c.9699T>G (p.His3233Gln) c.1888T>G c.9651T>G (p.His3217Gln) n.837T>G c.9729T>G (p.His3243Gln) c.9726T>G (p.His3242Gln) c.9492T>G (p.His3164Gln) c.9696T>G (p.His3232Gln) c.9708T>G (p.His3236Gln) | |
| 1 | g.237707067T= | CA2487451335 | RYR2 | c.*734T= (n.*734T=) c.9699T= (p.His3233=) c.1888T= c.9651T= (p.His3217=) n.837T= c.9729T= (p.His3243=) c.9726T= (p.His3242=) c.9492T= (p.His3164=) c.9696T= (p.His3232=) c.9708T= (p.His3236=) | |
| 1 | g.237707068G>A | CA345408595 | RYR2 | c.*735G>A (n.*735G>A) c.9700G>A (p.Val3234Ile) c.1889G>A c.9652G>A (p.Val3218Ile) n.838G>A c.9730G>A (p.Val3244Ile) c.9727G>A (p.Val3243Ile) c.9493G>A (p.Val3165Ile) c.9697G>A (p.Val3233Ile) c.9709G>A (p.Val3237Ile) | COSMIC |
| 1 | g.237707068G>C | CA345408596 | RYR2 | c.*735G>C (n.*735G>C) c.9700G>C (p.Val3234Leu) c.1889G>C c.9652G>C (p.Val3218Leu) n.838G>C c.9730G>C (p.Val3244Leu) c.9727G>C (p.Val3243Leu) c.9493G>C (p.Val3165Leu) c.9697G>C (p.Val3233Leu) c.9709G>C (p.Val3237Leu) | |
| 1 | g.237707068G>T | CA345408597 | RYR2 | c.*735G>T (n.*735G>T) c.9700G>T (p.Val3234Phe) c.1889G>T c.9652G>T (p.Val3218Phe) n.838G>T c.9730G>T (p.Val3244Phe) c.9727G>T (p.Val3243Phe) c.9493G>T (p.Val3165Phe) c.9697G>T (p.Val3233Phe) c.9709G>T (p.Val3237Phe) | gnomAD v4 |
| 1 | g.237707068_237707069insAGTTTCTCCAAAGACGGTATGTT | CA2534457682 | RYR2 | c.*735_*736insAGTTTCTCCAAAGACGGTATGTT (n.*735_*736insAGTTTCTCCAAAGACGGTATGTT) c.9700_9701insAGTTTCTCCAAAGACGGTATGTT (p.Val3234GlufsTer?) c.1889_1890insAGTTTCTCCAAAGACGGTATGTT c.9652_9653insAGTTTCTCCAAAGACGGTATGTT (p.Val3218GlufsTer?) n.838_839insAGTTTCTCCAAAGACGGTATGTT c.9730_9731insAGTTTCTCCAAAGACGGTATGTT (p.Val3244GlufsTer?) c.9727_9728insAGTTTCTCCAAAGACGGTATGTT (p.Val3243GlufsTer?) c.9493_9494insAGTTTCTCCAAAGACGGTATGTT (p.Val3165GlufsTer?) c.9697_9698insAGTTTCTCCAAAGACGGTATGTT (p.Val3233GlufsTer?) c.9709_9710insAGTTTCTCCAAAGACGGTATGTT (p.Val3237GlufsTer?) | |
| 1 | g.237707069T>A | CA345408598 | RYR2 | c.*736T>A (n.*736T>A) c.9701T>A (p.Val3234Asp) c.1890T>A c.9653T>A (p.Val3218Asp) n.839T>A c.9731T>A (p.Val3244Asp) c.9728T>A (p.Val3243Asp) c.9494T>A (p.Val3165Asp) c.9698T>A (p.Val3233Asp) c.9710T>A (p.Val3237Asp) | |
| 1 | g.237707069T>C | CA345408599 | RYR2 | c.*736T>C (n.*736T>C) c.9701T>C (p.Val3234Ala) c.1890T>C c.9653T>C (p.Val3218Ala) n.839T>C c.9731T>C (p.Val3244Ala) c.9728T>C (p.Val3243Ala) c.9494T>C (p.Val3165Ala) c.9698T>C (p.Val3233Ala) c.9710T>C (p.Val3237Ala) | ClinVar |
| 1 | g.237707069T>G | CA345408600 | RYR2 | c.*736T>G (n.*736T>G) c.9701T>G (p.Val3234Gly) c.1890T>G c.9653T>G (p.Val3218Gly) n.839T>G c.9731T>G (p.Val3244Gly) c.9728T>G (p.Val3243Gly) c.9494T>G (p.Val3165Gly) c.9698T>G (p.Val3233Gly) c.9710T>G (p.Val3237Gly) | |
| 1 | g.237707070C>A | CA424031695 | RYR2 | c.*737C>A (n.*737C>A) c.9702C>A (p.Val3234=) c.1891C>A c.9654C>A (p.Val3218=) n.840C>A c.9732C>A (p.Val3244=) c.9729C>A (p.Val3243=) c.9495C>A (p.Val3165=) c.9699C>A (p.Val3233=) c.9711C>A (p.Val3237=) | |
| 1 | g.237707070C= | CA2487451336 | RYR2 | c.*737C= (n.*737C=) c.9702C= (p.Val3234=) c.1891C= c.9654C= (p.Val3218=) n.840C= c.9732C= (p.Val3244=) c.9729C= (p.Val3243=) c.9495C= (p.Val3165=) c.9699C= (p.Val3233=) c.9711C= (p.Val3237=) | |
| 1 | g.237707070C>G | CA424031696 | RYR2 | c.*737C>G (n.*737C>G) c.9702C>G (p.Val3234=) c.1891C>G c.9654C>G (p.Val3218=) n.840C>G c.9732C>G (p.Val3244=) c.9729C>G (p.Val3243=) c.9495C>G (p.Val3165=) c.9699C>G (p.Val3233=) c.9711C>G (p.Val3237=) | dbSNP |
| 1 | g.237707070C>T | CA424031697 | RYR2 | c.*737C>T (n.*737C>T) c.9702C>T (p.Val3234=) c.1891C>T c.9654C>T (p.Val3218=) n.840C>T c.9732C>T (p.Val3244=) c.9729C>T (p.Val3243=) c.9495C>T (p.Val3165=) c.9699C>T (p.Val3233=) c.9711C>T (p.Val3237=) | |
| 1 | g.237707071A= | CA2487451337 | RYR2 | c.*738A= (n.*738A=) c.9703A= (p.Met3235=) c.1892A= c.9655A= (p.Met3219=) n.841A= c.9733A= (p.Met3245=) c.9730A= (p.Met3244=) c.9496A= (p.Met3166=) c.9700A= (p.Met3234=) c.9712A= (p.Met3238=) | |
| 1 | g.237707071A>C | CA345408601 | RYR2 | c.*738A>C (n.*738A>C) c.9703A>C (p.Met3235Leu) c.1892A>C c.9655A>C (p.Met3219Leu) n.841A>C c.9733A>C (p.Met3245Leu) c.9730A>C (p.Met3244Leu) c.9496A>C (p.Met3166Leu) c.9700A>C (p.Met3234Leu) c.9712A>C (p.Met3238Leu) | |
| 1 | g.237707071A>G | CA087948 | RYR2 | c.*738A>G (n.*738A>G) c.9703A>G (p.Met3235Val) c.1892A>G c.9655A>G (p.Met3219Val) n.841A>G c.9733A>G (p.Met3245Val) c.9730A>G (p.Met3244Val) c.9496A>G (p.Met3166Val) c.9700A>G (p.Met3234Val) c.9712A>G (p.Met3238Val) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237707071A>T | CA345408602 | RYR2 | c.*738A>T (n.*738A>T) c.9703A>T (p.Met3235Leu) c.1892A>T c.9655A>T (p.Met3219Leu) n.841A>T c.9733A>T (p.Met3245Leu) c.9730A>T (p.Met3244Leu) c.9496A>T (p.Met3166Leu) c.9700A>T (p.Met3234Leu) c.9712A>T (p.Met3238Leu) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237707072T>A | CA345408603 | RYR2 | c.*739T>A (n.*739T>A) c.9704T>A (p.Met3235Lys) c.1893T>A c.9656T>A (p.Met3219Lys) n.842T>A c.9734T>A (p.Met3245Lys) c.9731T>A (p.Met3244Lys) c.9497T>A (p.Met3166Lys) c.9701T>A (p.Met3234Lys) c.9713T>A (p.Met3238Lys) | |
| 1 | g.237707072T>C | CA345408604 | RYR2 | c.*739T>C (n.*739T>C) c.9704T>C (p.Met3235Thr) c.1893T>C c.9656T>C (p.Met3219Thr) n.842T>C c.9734T>C (p.Met3245Thr) c.9731T>C (p.Met3244Thr) c.9497T>C (p.Met3166Thr) c.9701T>C (p.Met3234Thr) c.9713T>C (p.Met3238Thr) | |
| 1 | g.237707072T>G | CA345408605 | RYR2 | c.*739T>G (n.*739T>G) c.9704T>G (p.Met3235Arg) c.1893T>G c.9656T>G (p.Met3219Arg) n.842T>G c.9734T>G (p.Met3245Arg) c.9731T>G (p.Met3244Arg) c.9497T>G (p.Met3166Arg) c.9701T>G (p.Met3234Arg) c.9713T>G (p.Met3238Arg) | |
| 1 | g.237707073G>A | CA39791803 | RYR2 | c.*740G>A (n.*740G>A) c.9705G>A (p.Met3235Ile) c.1894G>A c.9657G>A (p.Met3219Ile) n.843G>A c.9735G>A (p.Met3245Ile) c.9732G>A (p.Met3244Ile) c.9498G>A (p.Met3166Ile) c.9702G>A (p.Met3234Ile) c.9714G>A (p.Met3238Ile) | ClinVar dbSNP gnomAD v4 |
| 1 | g.237707073G>C | CA345408606 | RYR2 | c.*740G>C (n.*740G>C) c.9705G>C (p.Met3235Ile) c.1894G>C c.9657G>C (p.Met3219Ile) n.843G>C c.9735G>C (p.Met3245Ile) c.9732G>C (p.Met3244Ile) c.9498G>C (p.Met3166Ile) c.9702G>C (p.Met3234Ile) c.9714G>C (p.Met3238Ile) | |
| 1 | g.237707073G= | CA2487451338 | RYR2 | c.*740G= (n.*740G=) c.9705G= (p.Met3235=) c.1894G= c.9657G= (p.Met3219=) n.843G= c.9735G= (p.Met3245=) c.9732G= (p.Met3244=) c.9498G= (p.Met3166=) c.9702G= (p.Met3234=) c.9714G= (p.Met3238=) | |
| 1 | g.237707073G>T | CA345408607 | RYR2 | c.*740G>T (n.*740G>T) c.9705G>T (p.Met3235Ile) c.1894G>T c.9657G>T (p.Met3219Ile) n.843G>T c.9735G>T (p.Met3245Ile) c.9732G>T (p.Met3244Ile) c.9498G>T (p.Met3166Ile) c.9702G>T (p.Met3234Ile) c.9714G>T (p.Met3238Ile) | |
| 1 | g.237707074G>A | CA345408608 | RYR2 | c.*741G>A (n.*741G>A) c.9706G>A (p.Glu3236Lys) c.1895G>A c.9658G>A (p.Glu3220Lys) n.844G>A c.9736G>A (p.Glu3246Lys) c.9733G>A (p.Glu3245Lys) c.9499G>A (p.Glu3167Lys) c.9703G>A (p.Glu3235Lys) c.9715G>A (p.Glu3239Lys) | dbSNP COSMIC COSMIC |
| 1 | g.237707074G>C | CA345408609 | RYR2 | c.*741G>C (n.*741G>C) c.9706G>C (p.Glu3236Gln) c.1895G>C c.9658G>C (p.Glu3220Gln) n.844G>C c.9736G>C (p.Glu3246Gln) c.9733G>C (p.Glu3245Gln) c.9499G>C (p.Glu3167Gln) c.9703G>C (p.Glu3235Gln) c.9715G>C (p.Glu3239Gln) | |
| 1 | g.237707074G= | CA2487451339 | RYR2 | c.*741G= (n.*741G=) c.9706G= (p.Glu3236=) c.1895G= c.9658G= (p.Glu3220=) n.844G= c.9736G= (p.Glu3246=) c.9733G= (p.Glu3245=) c.9499G= (p.Glu3167=) c.9703G= (p.Glu3235=) c.9715G= (p.Glu3239=) | |
| 1 | g.237707074G>T | CA345408610 | RYR2 | c.*741G>T (n.*741G>T) c.9706G>T (p.Glu3236Ter) c.1895G>T c.9658G>T (p.Glu3220Ter) n.844G>T c.9736G>T (p.Glu3246Ter) c.9733G>T (p.Glu3245Ter) c.9499G>T (p.Glu3167Ter) c.9703G>T (p.Glu3235Ter) c.9715G>T (p.Glu3239Ter) | |
| 1 | g.237707075A>C | CA345408611 | RYR2 | c.*742A>C (n.*742A>C) c.9707A>C (p.Glu3236Ala) c.1896A>C c.9659A>C (p.Glu3220Ala) n.845A>C c.9737A>C (p.Glu3246Ala) c.9734A>C (p.Glu3245Ala) c.9500A>C (p.Glu3167Ala) c.9704A>C (p.Glu3235Ala) c.9716A>C (p.Glu3239Ala) | |
| 1 | g.237707075A>G | CA345408612 | RYR2 | c.*742A>G (n.*742A>G) c.9707A>G (p.Glu3236Gly) c.1896A>G c.9659A>G (p.Glu3220Gly) n.845A>G c.9737A>G (p.Glu3246Gly) c.9734A>G (p.Glu3245Gly) c.9500A>G (p.Glu3167Gly) c.9704A>G (p.Glu3235Gly) c.9716A>G (p.Glu3239Gly) | |
| 1 | g.237707075A>T | CA345408613 | RYR2 | c.*742A>T (n.*742A>T) c.9707A>T (p.Glu3236Val) c.1896A>T c.9659A>T (p.Glu3220Val) n.845A>T c.9737A>T (p.Glu3246Val) c.9734A>T (p.Glu3245Val) c.9500A>T (p.Glu3167Val) c.9704A>T (p.Glu3235Val) c.9716A>T (p.Glu3239Val) | |
| 1 | g.237707076A= | CA2487451340 | RYR2 | c.*743A= (n.*743A=) c.9708A= (p.Glu3236=) c.1897A= c.9660A= (p.Glu3220=) n.846A= c.9738A= (p.Glu3246=) c.9735A= (p.Glu3245=) c.9501A= (p.Glu3167=) c.9705A= (p.Glu3235=) c.9717A= (p.Glu3239=) | |
| 1 | g.237707076A>C | CA345408615 | RYR2 | c.*743A>C (n.*743A>C) c.9708A>C (p.Glu3236Asp) c.1897A>C c.9660A>C (p.Glu3220Asp) n.846A>C c.9738A>C (p.Glu3246Asp) c.9735A>C (p.Glu3245Asp) c.9501A>C (p.Glu3167Asp) c.9705A>C (p.Glu3235Asp) c.9717A>C (p.Glu3239Asp) | |
| 1 | g.237707076A>G | CA424031698 | RYR2 | c.*743A>G (n.*743A>G) c.9708A>G (p.Glu3236=) c.1897A>G c.9660A>G (p.Glu3220=) n.846A>G c.9738A>G (p.Glu3246=) c.9735A>G (p.Glu3245=) c.9501A>G (p.Glu3167=) c.9705A>G (p.Glu3235=) c.9717A>G (p.Glu3239=) | dbSNP gnomAD v2 gnomAD v3 gnomAD v4 |
| 1 | g.237707076A>T | CA345408614 | RYR2 | c.*743A>T (n.*743A>T) c.9708A>T (p.Glu3236Asp) c.1897A>T c.9660A>T (p.Glu3220Asp) n.846A>T c.9738A>T (p.Glu3246Asp) c.9735A>T (p.Glu3245Asp) c.9501A>T (p.Glu3167Asp) c.9705A>T (p.Glu3235Asp) c.9717A>T (p.Glu3239Asp) | |
| 1 | g.237707077G>A | CA076967 | RYR2 | c.*744G>A (n.*744G>A) c.9709G>A (p.Val3237Ile) c.1898G>A c.9661G>A (p.Val3221Ile) n.847G>A c.9739G>A (p.Val3247Ile) c.9736G>A (p.Val3246Ile) c.9502G>A (p.Val3168Ile) c.9706G>A (p.Val3236Ile) c.9718G>A (p.Val3240Ile) | |
| 1 | g.237707077G>C | CA345408616 | RYR2 | c.*744G>C (n.*744G>C) c.9709G>C (p.Val3237Leu) c.1898G>C c.9661G>C (p.Val3221Leu) n.847G>C c.9739G>C (p.Val3247Leu) c.9736G>C (p.Val3246Leu) c.9502G>C (p.Val3168Leu) c.9706G>C (p.Val3236Leu) c.9718G>C (p.Val3240Leu) | |
| 1 | g.237707077G>T | CA345408617 | RYR2 | c.*744G>T (n.*744G>T) c.9709G>T (p.Val3237Phe) c.1898G>T c.9661G>T (p.Val3221Phe) n.847G>T c.9739G>T (p.Val3247Phe) c.9736G>T (p.Val3246Phe) c.9502G>T (p.Val3168Phe) c.9706G>T (p.Val3236Phe) c.9718G>T (p.Val3240Phe) | |
| 1 | g.237707078T>A | CA345408618 | RYR2 | c.*745T>A (n.*745T>A) c.9710T>A (p.Val3237Asp) c.1899T>A c.9662T>A (p.Val3221Asp) n.848T>A c.9740T>A (p.Val3247Asp) c.9737T>A (p.Val3246Asp) c.9503T>A (p.Val3168Asp) c.9707T>A (p.Val3236Asp) c.9719T>A (p.Val3240Asp) | |
| 1 | g.237707078T>C | CA345408619 | RYR2 | c.*745T>C (n.*745T>C) c.9710T>C (p.Val3237Ala) c.1899T>C c.9662T>C (p.Val3221Ala) n.848T>C c.9740T>C (p.Val3247Ala) c.9737T>C (p.Val3246Ala) c.9503T>C (p.Val3168Ala) c.9707T>C (p.Val3236Ala) c.9719T>C (p.Val3240Ala) | |
| 1 | g.237707078T>G | CA345408620 | RYR2 | c.*745T>G (n.*745T>G) c.9710T>G (p.Val3237Gly) c.1899T>G c.9662T>G (p.Val3221Gly) n.848T>G c.9740T>G (p.Val3247Gly) c.9737T>G (p.Val3246Gly) c.9503T>G (p.Val3168Gly) c.9707T>G (p.Val3236Gly) c.9719T>G (p.Val3240Gly) | |
| 1 | g.237707079C>A | CA424031701 | RYR2 | c.*746C>A (n.*746C>A) c.9711C>A (p.Val3237=) c.1900C>A c.9663C>A (p.Val3221=) n.849C>A c.9741C>A (p.Val3247=) c.9738C>A (p.Val3246=) c.9504C>A (p.Val3168=) c.9708C>A (p.Val3236=) c.9720C>A (p.Val3240=) | |
| 1 | g.237707079C= | CA2487451341 | RYR2 | c.*746C= (n.*746C=) c.9711C= (p.Val3237=) c.1900C= c.9663C= (p.Val3221=) n.849C= c.9741C= (p.Val3247=) c.9738C= (p.Val3246=) c.9504C= (p.Val3168=) c.9708C= (p.Val3236=) c.9720C= (p.Val3240=) | |
| 1 | g.237707079C>G | CA424031699 | RYR2 | c.*746C>G (n.*746C>G) c.9711C>G (p.Val3237=) c.1900C>G c.9663C>G (p.Val3221=) n.849C>G c.9741C>G (p.Val3247=) c.9738C>G (p.Val3246=) c.9504C>G (p.Val3168=) c.9708C>G (p.Val3236=) c.9720C>G (p.Val3240=) | dbSNP |