All transcript variants in gene SMYD2

Information The variants shown are described using the NM_020197.2 transcript reference sequence.

88 entries on 1 page. Showing entries 1 - 88.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.116A>G r.(?) p.(Tyr39Cys) g.214454713A>G Copied from the Exome Variant Server SMYD2_000001 1/12970 1/8574 0/4396
?/? c.129C>T r.(=) p.(=) g.214454726C>T Copied from the Exome Variant Server SMYD2_000002 1/12972 1/8578 0/4394
?/? c.132G>A r.(=) p.(=) g.214454729G>A Copied from the Exome Variant Server SMYD2_000004 1/12976 0/8576 1/4400
?/? c.141G>C r.(?) p.(Glu47Asp) g.214454738G>C Copied from the Exome Variant Server SMYD2_000006 1/12976 1/8574 0/4402
?/? c.142C>T r.(?) p.(Arg48Trp) g.214454739C>T Copied from the Exome Variant Server SMYD2_000008 3/12974 3/8576 0/4398
?/? c.151C>T r.(?) p.(His51Tyr) g.214454748C>T Copied from the Exome Variant Server SMYD2_000010 1/12962 1/8572 0/4390
?/? c.173+14G>A r.(=) p.(=) g.214454784G>A Copied from the Exome Variant Server SMYD2_000012 98/11710 1/7782 97/3928
?/? c.173+26del r.(=) p.(=) g.214454796del Copied from the Exome Variant Server SMYD2_000014 155/8058 100/5434 55/2624
?/? c.173+30G>A r.(=) p.(=) g.214454800G>A Copied from the Exome Variant Server SMYD2_000016 4/8844 4/5930 0/2914
?/? c.174-22C>T r.(=) p.(=) g.214478508C>T Copied from the Exome Variant Server SMYD2_000018 1/13006 1/8600 0/4406
?/? c.174-11C>G r.(=) p.(=) g.214478519C>G Copied from the Exome Variant Server SMYD2_000020 1/13006 0/8600 1/4406
?/? c.237+4G>A r.spl? p.? g.214478597G>A Copied from the Exome Variant Server SMYD2_000022 1/13006 1/8600 0/4406
?/? c.237+11G>C r.(=) p.(=) g.214478604G>C Copied from the Exome Variant Server SMYD2_000024 1/13006 1/8600 0/4406
?/? c.238-32del r.(=) p.(=) g.214488073del Copied from the Exome Variant Server SMYD2_000026 22/12520 13/8254 9/4266
?/? c.238-27_238-25del r.(=) p.(=) g.214488078_214488080del Copied from the Exome Variant Server SMYD2_000028 26/12520 14/8254 12/4266
?/? c.238-25A>T r.(=) p.(=) g.214488080A>T Copied from the Exome Variant Server SMYD2_000030 1/13006 0/8600 1/4406
?/? c.238-20del r.(=) p.(=) g.214488085del Copied from the Exome Variant Server SMYD2_000033 3/12520 2/8254 1/4266
?/? c.305C>T r.(?) p.(Pro102Leu) g.214488172C>T Copied from the Exome Variant Server SMYD2_000035 2/13006 2/8600 0/4406
?/? c.309G>A r.(=) p.(=) g.214488176G>A Copied from the Exome Variant Server SMYD2_000037 1/13006 0/8600 1/4406
?/? c.315T>C r.(=) p.(=) g.214488182T>C Copied from the Exome Variant Server SMYD2_000039 1/13006 0/8600 1/4406
?/? c.348+12G>A r.(=) p.(=) g.214488227G>A Copied from the Exome Variant Server SMYD2_000041 25/13006 23/8600 2/4406
?/? c.348+39G>A r.(=) p.(=) g.214488254G>A Copied from the Exome Variant Server SMYD2_000042 1/13004 1/8600 0/4404
?/? c.349-8A>G r.(=) p.(=) g.214491414A>G Copied from the Exome Variant Server SMYD2_000044 1/13006 1/8600 0/4406
?/? c.368C>T r.(?) p.(Thr123Ile) g.214491441C>T Copied from the Exome Variant Server SMYD2_000046 3/13006 0/8600 3/4406
?/? c.389C>G r.(?) p.(Ala130Gly) g.214491462C>G Copied from the Exome Variant Server SMYD2_000048 1/13006 1/8600 0/4406
?/? c.409+23G>A r.(=) p.(=) g.214491505G>A Copied from the Exome Variant Server SMYD2_000003 1/13006 1/8600 0/4406
?/? c.409+54G>C r.(=) p.(=) g.214491536G>C Copied from the Exome Variant Server SMYD2_000005 1402/4566 1063/3182 339/1384
?/? c.428A>G r.(?) p.(Asn143Ser) g.214492220A>G Copied from the Exome Variant Server SMYD2_000007 1/13006 0/8600 1/4406
?/? c.493G>A r.(?) p.(Gly165Arg) g.214492285G>A Copied from the Exome Variant Server SMYD2_000009 1/13006 1/8600 0/4406
?/? c.494G>A r.(?) p.(Gly165Glu) g.214492286G>A Copied from the Exome Variant Server SMYD2_000011 12204/13006 7890/8600 4314/4406
?/? c.497T>G r.(?) p.(Phe166Cys) g.214492289T>G Copied from the Exome Variant Server SMYD2_000013 101/13006 0/8600 101/4406
?/? c.499C>T r.(?) p.(Pro167Ser) g.214492291C>T Copied from the Exome Variant Server SMYD2_000015 1/13006 0/8600 1/4406
?/? c.513C>T r.(=) p.(=) g.214492305C>T Copied from the Exome Variant Server SMYD2_000017 2/13006 2/8600 0/4406
?/? c.516C>T r.(=) p.(=) g.214492308C>T Copied from the Exome Variant Server SMYD2_000019 1/13006 0/8600 1/4406
?/? c.517G>A r.(?) p.(Val173Ile) g.214492309G>A Copied from the Exome Variant Server SMYD2_000021 1/13006 1/8600 0/4406
?/? c.534+25A>G r.(=) p.(=) g.214492351A>G Copied from the Exome Variant Server SMYD2_000023 1/13006 1/8600 0/4406
?/? c.535-3C>T r.spl? p.? g.214497981C>T Copied from the Exome Variant Server SMYD2_000025 1/13006 0/8600 1/4406
?/? c.591G>C r.(=) p.(=) g.214498040G>C Copied from the Exome Variant Server SMYD2_000027 1/13006 0/8600 1/4406
?/? c.602+27T>C r.(=) p.(=) g.214498078T>C Copied from the Exome Variant Server SMYD2_000029 1/13006 0/8600 1/4406
?/? c.602+39A>G r.(=) p.(=) g.214498090A>G Copied from the Exome Variant Server SMYD2_000031 1/13006 1/8600 0/4406
?/? c.602+51T>C r.(=) p.(=) g.214498102T>C Copied from the Exome Variant Server SMYD2_000032 160/13006 2/8600 158/4406
?/? c.602+55_602+56insT r.(=) p.(=) g.214498106_214498107insT Copied from the Exome Variant Server SMYD2_000034 91/12520 66/8254 25/4266
?/? c.603-11C>T r.(=) p.(=) g.214500954C>T Copied from the Exome Variant Server SMYD2_000036 14/13006 0/8600 14/4406
?/? c.612G>A r.(=) p.(=) g.214500974G>A Copied from the Exome Variant Server SMYD2_000038 1/13006 1/8600 0/4406
?/? c.659C>T r.(?) p.(Thr220Ile) g.214501021C>T Copied from the Exome Variant Server SMYD2_000040 1/13006 0/8600 1/4406
?/? c.694C>T r.(?) p.(Pro232Ser) g.214501056C>T Copied from the Exome Variant Server SMYD2_000043 1/13006 0/8600 1/4406
?/? c.695C>G r.(?) p.(Pro232Arg) g.214501057C>G Copied from the Exome Variant Server SMYD2_000045 1/13006 0/8600 1/4406
?/? c.696G>A r.(=) p.(=) g.214501058G>A Copied from the Exome Variant Server SMYD2_000047 6/13006 4/8600 2/4406
?/? c.705+15A>G r.(=) p.(=) g.214501082A>G Copied from the Exome Variant Server SMYD2_000049 474/13006 5/8600 469/4406
?/? c.705+18G>A r.(=) p.(=) g.214501085G>A Copied from the Exome Variant Server SMYD2_000050 4/13006 4/8600 0/4406
?/? c.706-32A>G r.(=) p.(=) g.214503479A>G Copied from the Exome Variant Server SMYD2_000051 1/13006 0/8600 1/4406
?/? c.706-22T>G r.(=) p.(=) g.214503489T>G Copied from the Exome Variant Server SMYD2_000052 7234/13006 4862/8600 2372/4406
?/? c.706-11G>A r.(=) p.(=) g.214503500G>A Copied from the Exome Variant Server SMYD2_000053 1/13006 1/8600 0/4406
?/? c.706-3T>C r.spl? p.? g.214503508T>C Copied from the Exome Variant Server SMYD2_000054 1/13006 1/8600 0/4406
?/? c.726T>C r.(=) p.(=) g.214503531T>C Copied from the Exome Variant Server SMYD2_000055 1/13006 0/8600 1/4406
?/? c.740C>T r.(?) p.(Thr247Met) g.214503545C>T Copied from the Exome Variant Server SMYD2_000056 1/13006 1/8600 0/4406
?/? c.741G>A r.(=) p.(=) g.214503546G>A Copied from the Exome Variant Server SMYD2_000057 1/13006 1/8600 0/4406
?/? c.799T>G r.(?) p.(Cys267Gly) g.214503604T>G Copied from the Exome Variant Server SMYD2_000058 1/13006 0/8600 1/4406
?/? c.816+25C>A r.(=) p.(=) g.214503646C>A Copied from the Exome Variant Server SMYD2_000059 2/13006 0/8600 2/4406
?/? c.817-17G>T r.(=) p.(=) g.214504276G>T Copied from the Exome Variant Server SMYD2_000060 3/13006 2/8600 1/4406
?/? c.839G>A r.(?) p.(Arg280Gln) g.214504315G>A Copied from the Exome Variant Server SMYD2_000061 1/13006 1/8600 0/4406
?/? c.849C>A r.(?) p.(Ser283Arg) g.214504325C>A Copied from the Exome Variant Server SMYD2_000062 1/13006 0/8600 1/4406
?/? c.901G>A r.(?) p.(Val301Ile) g.214504377G>A Copied from the Exome Variant Server SMYD2_000063 3/13006 1/8600 2/4406
?/? c.921G>T r.(?) p.(Arg307Ser) g.214504397G>T Copied from the Exome Variant Server SMYD2_000064 1/13006 0/8600 1/4406
?/? c.937+31T>C r.(=) p.(=) g.214504444T>C Copied from the Exome Variant Server SMYD2_000066 15/13006 0/8600 15/4406
?/? c.937+38C>T r.(=) p.(=) g.214504451C>T Copied from the Exome Variant Server SMYD2_000068 1/13006 1/8600 0/4406
?/? c.937+39G>A r.(=) p.(=) g.214504452G>A Copied from the Exome Variant Server SMYD2_000070 1/13006 1/8600 0/4406
?/? c.938-28G>A r.(=) p.(=) g.214505333G>A Copied from the Exome Variant Server SMYD2_000072 1/13006 1/8600 0/4406
?/? c.945T>C r.(=) p.(=) g.214505368T>C Copied from the Exome Variant Server SMYD2_000074 1/13006 1/8600 0/4406
?/? c.1005T>C r.(=) p.(=) g.214505428T>C Copied from the Exome Variant Server SMYD2_000076 1/13006 0/8600 1/4406
?/? c.1008C>T r.(=) p.(=) g.214505431C>T Copied from the Exome Variant Server SMYD2_000078 1/13006 1/8600 0/4406
?/? c.1077C>G r.(=) p.(=) g.214505500C>G Copied from the Exome Variant Server SMYD2_000080 4/13006 0/8600 4/4406
?/? c.1107C>G r.(=) p.(=) g.214505530C>G Copied from the Exome Variant Server SMYD2_000082 1/13006 0/8600 1/4406
?/? c.1112+7G>T r.(=) p.(=) g.214505542G>T Copied from the Exome Variant Server SMYD2_000084 2/13006 0/8600 2/4406
?/? c.1112+30C>T r.(=) p.(=) g.214505565C>T Copied from the Exome Variant Server SMYD2_000086 2/13006 1/8600 1/4406
?/? c.1112+48T>G r.(=) p.(=) g.214505583T>G Copied from the Exome Variant Server SMYD2_000065 2/13006 0/8600 2/4406
?/? c.1113-17C>G r.(=) p.(=) g.214507526C>G Copied from the Exome Variant Server SMYD2_000067 2/13006 0/8600 2/4406
?/? c.1126T>C r.(=) p.(=) g.214507556T>C Copied from the Exome Variant Server SMYD2_000069 1/13006 0/8600 1/4406
?/? c.1150A>G r.(?) p.(Met384Val) g.214507580A>G Copied from the Exome Variant Server SMYD2_000071 230/13006 199/8600 31/4406
?/? c.1152G>T r.(?) p.(Met384Ile) g.214507582G>T Copied from the Exome Variant Server SMYD2_000073 1/13006 1/8600 0/4406
?/? c.1180G>T r.(?) p.(Gly394Cys) g.214507610G>T Copied from the Exome Variant Server SMYD2_000075 15/13006 15/8600 0/4406
?/? c.1183C>G r.(?) p.(Leu395Val) g.214507613C>G Copied from the Exome Variant Server SMYD2_000077 1/13006 0/8600 1/4406
?/? c.1221+16G>A r.(=) p.(=) g.214507667G>A Copied from the Exome Variant Server SMYD2_000079 25/13006 0/8600 25/4406
?/? c.1230A>G r.(=) p.(=) g.214510055A>G Copied from the Exome Variant Server SMYD2_000081 1/13006 1/8600 0/4406
?/? c.1242A>G r.(=) p.(=) g.214510067A>G Copied from the Exome Variant Server SMYD2_000083 1/13006 0/8600 1/4406
?/? c.1265A>C r.(?) p.(Tyr422Ser) g.214510090A>C Copied from the Exome Variant Server SMYD2_000085 2/13006 2/8600 0/4406
?/? c.1273G>A r.(?) p.(Glu425Lys) g.214510098G>A Copied from the Exome Variant Server SMYD2_000087 1/13006 1/8600 0/4406
?/? c.1290T>G r.(?) p.(Ile430Met) g.214510115T>G Copied from the Exome Variant Server SMYD2_000088 32/13006 19/8600 13/4406
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