All transcript variants in gene ASXL2

Information The variants shown are described using the NM_018263.4 transcript reference sequence.

181 entries on 2 pages. Showing entries 1 - 100.
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Effect     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Freq. EA     

Freq. AA     
?/? c.-48C>T r.(=) p.(=) g.26101139G>A Copied from the Exome Variant Server ASXL2_000159 1/12000 1/8232 0/3768
?/? c.-40G>T r.(=) p.(=) g.26101131C>A Copied from the Exome Variant Server ASXL2_000179 1/11994 1/8226 0/3768
?/? c.5G>A r.(?) p.(Arg2Lys) g.26101087C>T Copied from the Exome Variant Server ASXL2_000156 1/12038 1/8224 0/3814
?/? c.13G>A r.(?) p.(Gly5Arg) g.26101079C>T Copied from the Exome Variant Server ASXL2_000181 2/12046 2/8232 0/3814
?/? c.57+27G>T r.(=) p.(=) g.26101008C>A Copied from the Exome Variant Server ASXL2_000154 1/12166 1/8274 0/3892
?/? c.57+35G>A r.(=) p.(=) g.26101000C>T Copied from the Exome Variant Server ASXL2_000180 2/12160 2/8272 0/3888
?/? c.58-57_58-56del r.(=) p.(=) g.26068488_26068489del Copied from the Exome Variant Server ASXL2_000178 1/4862 1/3344 0/1518
?/? c.140+13_140+16del r.(=) p.(=) g.26068334_26068337del Copied from the Exome Variant Server ASXL2_000177 83/10586 34/7304 49/3282
?/? c.141-75del r.(=) p.(=) g.26068237del Copied from the Exome Variant Server ASXL2_000176 1/11206 0/7756 1/3450
?/? c.141-17A>G r.(=) p.(=) g.26068179T>C Copied from the Exome Variant Server ASXL2_000175 47/11672 0/8102 47/3570
?/? c.141-2A>G r.spl? p.? g.26068164T>C Copied from the Exome Variant Server ASXL2_000174 16/11692 0/8110 16/3582
?/? c.143+13A>G r.(=) p.(=) g.26068147T>C Copied from the Exome Variant Server ASXL2_000173 2/11704 0/8112 2/3592
?/? c.143+23G>A r.(=) p.(=) g.26068137C>T Copied from the Exome Variant Server ASXL2_000172 1/11726 1/8116 0/3610
?/? c.143+28C>G r.(=) p.(=) g.26068132G>C Copied from the Exome Variant Server ASXL2_000171 54/11726 0/8114 54/3612
?/? c.144-47G>A r.(=) p.(=) g.26029253C>T Copied from the Exome Variant Server ASXL2_000170 12/11938 1/8200 11/3738
?/? c.144-44A>G r.(=) p.(=) g.26029250T>C Copied from the Exome Variant Server ASXL2_000169 9/11950 9/8206 0/3744
?/? c.144-15T>A r.(=) p.(=) g.26029221A>T Copied from the Exome Variant Server ASXL2_000168 1/12034 0/8240 1/3794
?/? c.144T>C r.(=) p.(=) g.26029206A>G Copied from the Exome Variant Server ASXL2_000167 1/12056 1/8248 0/3808
?/? c.159T>G r.(=) p.(=) g.26029191A>C Copied from the Exome Variant Server ASXL2_000166 1/12028 0/8236 1/3792
?/? c.252+13T>C r.(=) p.(=) g.26029085A>G Copied from the Exome Variant Server ASXL2_000165 1/11754 1/8136 0/3618
?/? c.253-27A>G r.(=) p.(=) g.26022431T>C Copied from the Exome Variant Server ASXL2_000164 1/11972 1/8212 0/3760
?/? c.253-21A>T r.(=) p.(=) g.26022425T>A Copied from the Exome Variant Server ASXL2_000163 1/12008 0/8230 1/3778
?/? c.263C>T r.(?) p.(Pro88Leu) g.26022394G>A Copied from the Exome Variant Server ASXL2_000162 1/12228 1/8302 0/3926
?/? c.304A>C r.(?) p.(Ser102Arg) g.26022353T>G Copied from the Exome Variant Server ASXL2_000161 1/12518 1/8442 0/4076
?/? c.315G>A r.(=) p.(=) g.26022342C>T Copied from the Exome Variant Server ASXL2_000160 1/12530 1/8442 0/4088
?/? c.375G>C r.(?) p.(Glu125Asp) g.26022282C>G Copied from the Exome Variant Server ASXL2_000158 1/12514 0/8416 1/4098
?/? c.379A>G r.(?) p.(Lys127Glu) g.26022278T>C Copied from the Exome Variant Server ASXL2_000157 1/12500 0/8406 1/4094
?/? c.380A>G r.(?) p.(Lys127Arg) g.26022277T>C Copied from the Exome Variant Server ASXL2_000155 723/12494 431/8404 292/4090
?/? c.403+22A>G r.(=) p.(=) g.26022232T>C Copied from the Exome Variant Server ASXL2_000153 1/12298 1/8330 0/3968
?/? c.404-4_404-3insC r.spl? p.? g.25994412_25994413insG Copied from the Exome Variant Server ASXL2_000152 3186/11646 2280/7936 906/3710
?/? c.420G>A r.(=) p.(=) g.25994393C>T Copied from the Exome Variant Server ASXL2_000151 5/12400 1/8352 4/4048
?/? c.526A>C r.(?) p.(Lys176Gln) g.25991716T>G Copied from the Exome Variant Server ASXL2_000150 1/12416 0/8406 1/4010
?/? c.529A>C r.(?) p.(Lys177Gln) g.25991713T>G Copied from the Exome Variant Server ASXL2_000149 13/12426 11/8410 2/4016
?/? c.553A>G r.(?) p.(Ser185Gly) g.25991689T>C Copied from the Exome Variant Server ASXL2_000148 30/12456 29/8414 1/4042
?/? c.631+30A>T r.(=) p.(=) g.25991581T>A Copied from the Exome Variant Server ASXL2_000147 1/11878 1/8198 0/3680
?/? c.632-49del r.(=) p.(=) g.25990644del Copied from the Exome Variant Server ASXL2_000146 2/11490 1/7876 1/3614
?/? c.632-45A>G r.(=) p.(=) g.25990640T>C Copied from the Exome Variant Server ASXL2_000145 2002/11950 1770/8218 232/3732
?/? c.632-26T>A r.(=) p.(=) g.25990621A>T Copied from the Exome Variant Server ASXL2_000144 1/11974 1/8230 0/3744
?/? c.632-19A>G r.(=) p.(=) g.25990614T>C Copied from the Exome Variant Server ASXL2_000143 12/11964 11/8218 1/3746
?/? c.632-17G>A r.(=) p.(=) g.25990612C>T Copied from the Exome Variant Server ASXL2_000142 1/11960 1/8214 0/3746
?/? c.667G>A r.(?) p.(Gly223Ser) g.25990560C>T Copied from the Exome Variant Server ASXL2_000141 1/11984 1/8228 0/3756
?/? c.776-21G>A r.(=) p.(=) g.25982535C>T Copied from the Exome Variant Server ASXL2_000140 2/12006 2/8230 0/3776
?/? c.776-5del r.spl? p.? g.25982519del Copied from the Exome Variant Server ASXL2_000139 1/11542 1/7888 0/3654
?/? c.776G>A r.(?) p.(Arg259Lys) g.25982514C>T Copied from the Exome Variant Server ASXL2_000138 1/12056 0/8256 1/3800
?/? c.822G>A r.(=) p.(=) g.25982468C>T Copied from the Exome Variant Server ASXL2_000137 8/12226 0/8318 8/3908
?/? c.939+4C>T r.spl? p.? g.25982347G>A Copied from the Exome Variant Server ASXL2_000136 1/11914 1/8202 0/3712
?/? c.939+9T>C r.(=) p.(=) g.25982342A>G Copied from the Exome Variant Server ASXL2_000135 1/11880 1/8192 0/3688
?/? c.940-48_940-47insA r.(=) p.(=) g.25979030_25979031insT Copied from the Exome Variant Server ASXL2_000134 4/11376 4/7820 0/3556
?/? c.940-47C>T r.(=) p.(=) g.25979030G>A Copied from the Exome Variant Server ASXL2_000133 1/11830 1/8150 0/3680
?/? c.940-27C>T r.(=) p.(=) g.25979010G>A Copied from the Exome Variant Server ASXL2_000132 1/11872 1/8172 0/3700
?/? c.940-14A>G r.(=) p.(=) g.25978997T>C Copied from the Exome Variant Server ASXL2_000131 46/11896 0/8178 46/3718
?/? c.983A>G r.(?) p.(Asn328Ser) g.25978940T>C Copied from the Exome Variant Server ASXL2_000130 1/11988 1/8222 0/3766
?/? c.1036+26C>T r.(=) p.(=) g.25978861G>A Copied from the Exome Variant Server ASXL2_000129 3/12188 0/8290 3/3898
?/? c.1036+30G>A r.(=) p.(=) g.25978857C>T Copied from the Exome Variant Server ASXL2_000128 1/12216 1/8300 0/3916
?/? c.1036+33G>C r.(=) p.(=) g.25978854C>G Copied from the Exome Variant Server ASXL2_000127 1/12250 1/8308 0/3942
?/? c.1036+36T>C r.(=) p.(=) g.25978851A>G Copied from the Exome Variant Server ASXL2_000126 1/12252 1/8308 0/3944
?/? c.1095A>G r.(=) p.(=) g.25976450T>C Copied from the Exome Variant Server ASXL2_000125 1/11882 0/8192 1/3690
?/? c.1143-38A>G r.(=) p.(=) g.25973320T>C Copied from the Exome Variant Server ASXL2_000124 1/11954 0/8206 1/3748
?/? c.1143-27G>A r.(=) p.(=) g.25973309C>T Copied from the Exome Variant Server ASXL2_000123 4101/11896 2618/8186 1483/3710
?/? c.1232C>T r.(?) p.(Ser411Phe) g.25973193G>A Copied from the Exome Variant Server ASXL2_000122 1/11868 1/8188 0/3680
?/? c.1303G>A r.(?) p.(Ala435Thr) g.25973122C>T Copied from the Exome Variant Server ASXL2_000121 1/12298 0/8324 1/3974
?/? c.1338G>A r.(=) p.(=) g.25973087C>T Copied from the Exome Variant Server ASXL2_000120 1/12380 1/8342 0/4038
?/? c.1340G>A r.(?) p.(Cys447Tyr) g.25973085C>T Copied from the Exome Variant Server ASXL2_000119 1/12382 1/8340 0/4042
?/? c.1363C>G r.(?) p.(Pro455Ala) g.25973062G>C Copied from the Exome Variant Server ASXL2_000118 1/12428 0/8382 1/4046
?/? c.1365G>A r.(=) p.(=) g.25973060C>T Copied from the Exome Variant Server ASXL2_000117 508/12428 430/8382 78/4046
?/? c.1388C>G r.(?) p.(Pro463Arg) g.25973037G>C Copied from the Exome Variant Server ASXL2_000116 11/12430 0/8382 11/4048
?/? c.1409A>G r.(?) p.(Asn470Ser) g.25973016T>C Copied from the Exome Variant Server ASXL2_000115 1/12412 0/8380 1/4032
?/? c.1432C>T r.(?) p.(Leu478Phe) g.25972993G>A Copied from the Exome Variant Server ASXL2_000114 4/12352 4/8348 0/4004
?/? c.1478C>G r.(?) p.(Pro493Arg) g.25972947G>C Copied from the Exome Variant Server ASXL2_000113 1/12160 1/8292 0/3868
?/? c.1487C>G r.(?) p.(Ser496Cys) g.25972938G>C Copied from the Exome Variant Server ASXL2_000112 1/12106 0/8274 1/3832
?/? c.1489G>A r.(?) p.(Ala497Thr) g.25972936C>T Copied from the Exome Variant Server ASXL2_000111 46/12094 44/8266 2/3828
?/? c.1505A>G r.(?) p.(Glu502Gly) g.25972920T>C Copied from the Exome Variant Server ASXL2_000110 2/12066 1/8264 1/3802
?/? c.1556A>G r.(?) p.(Glu519Gly) g.25972869T>C Copied from the Exome Variant Server ASXL2_000109 2/11956 0/8230 2/3726
?/? c.1574C>G r.(?) p.(Pro525Arg) g.25972851G>C Copied from the Exome Variant Server ASXL2_000108 1/11962 1/8228 0/3734
?/? c.1609A>G r.(?) p.(Ile537Val) g.25972816T>C Copied from the Exome Variant Server ASXL2_000106 6/11916 0/8194 6/3722
?/? c.1613T>C r.(?) p.(Val538Ala) g.25972812A>G Copied from the Exome Variant Server ASXL2_000104 1/11910 1/8186 0/3724
?/? c.1640A>G r.(?) p.(Gln547Arg) g.25972785T>C Copied from the Exome Variant Server ASXL2_000102 22/11896 22/8178 0/3718
?/? c.1663C>G r.(?) p.(Leu555Val) g.25972762G>C Copied from the Exome Variant Server ASXL2_000100 2/11984 2/8208 0/3776
?/? c.1672C>G r.(?) p.(Leu558Val) g.25972753G>C Copied from the Exome Variant Server ASXL2_000098 1/12002 1/8210 0/3792
?/? c.1706A>G r.(?) p.(Lys569Arg) g.25972719T>C Copied from the Exome Variant Server ASXL2_000096 1/12166 0/8276 1/3890
?/? c.1728G>A r.(=) p.(=) g.25972697C>T Copied from the Exome Variant Server ASXL2_000094 2/12214 0/8296 2/3918
?/? c.1756C>T r.(?) p.(Arg586Cys) g.25972669G>A Copied from the Exome Variant Server ASXL2_000107 2/12376 1/8346 1/4030
?/? c.1772G>A r.(?) p.(Arg591His) g.25972653C>T Copied from the Exome Variant Server ASXL2_000105 37/12448 3/8376 34/4072
?/? c.1823G>A r.(?) p.(Gly608Glu) g.25972602C>T Copied from the Exome Variant Server ASXL2_000103 1/12384 1/8346 0/4038
?/? c.1840C>A r.(=) p.(=) g.25972585G>T Copied from the Exome Variant Server ASXL2_000101 1/12326 0/8318 1/4008
?/? c.1860+36G>A r.(=) p.(=) g.25972529C>T Copied from the Exome Variant Server ASXL2_000099 2/12070 0/8230 2/3840
?/? c.1860+47A>G r.(=) p.(=) g.25972518T>C Copied from the Exome Variant Server ASXL2_000097 1/12002 1/8220 0/3782
?/? c.1861-19_1861-18insT r.(=) p.(=) g.25967363_25967364insA Copied from the Exome Variant Server ASXL2_000095 15/11364 2/7806 13/3558
?/? c.1861-11A>G r.(=) p.(=) g.25967356T>C Copied from the Exome Variant Server ASXL2_000093 20/11886 0/8180 20/3706
?/? c.1863C>A r.(=) p.(=) g.25967343G>T Copied from the Exome Variant Server ASXL2_000092 8/11912 0/8192 8/3720
?/? c.1866G>A r.(=) p.(=) g.25967340C>T Copied from the Exome Variant Server ASXL2_000091 1/11924 1/8192 0/3732
?/? c.1869C>G r.(=) p.(=) g.25967337G>C Copied from the Exome Variant Server ASXL2_000090 1/11938 0/8200 1/3738
?/? c.1908C>G r.(=) p.(=) g.25967298G>C Copied from the Exome Variant Server ASXL2_000089 1/12066 1/8240 0/3826
?/? c.1930G>T r.(?) p.(Val644Phe) g.25967276C>A Copied from the Exome Variant Server ASXL2_000088 11/12060 0/8244 11/3816
?/? c.1941T>C r.(=) p.(=) g.25967265A>G Copied from the Exome Variant Server ASXL2_000087 2/12046 0/8242 2/3804
?/? c.2026G>A r.(?) p.(Ala676Thr) g.25967180C>T Copied from the Exome Variant Server ASXL2_000086 1/11760 1/8104 0/3656
?/? c.2031C>T r.(=) p.(=) g.25967175G>A Copied from the Exome Variant Server ASXL2_000085 1/11740 1/8088 0/3652
?/? c.2032G>A r.(?) p.(Ala678Thr) g.25967174C>T Copied from the Exome Variant Server ASXL2_000084 1/11766 1/8102 0/3664
?/? c.2035G>A r.(?) p.(Ala679Thr) g.25967171C>T Copied from the Exome Variant Server ASXL2_000083 1/11838 0/8144 1/3694
?/? c.2036_2037insCGCCGC r.(?) p.(Ala683_Ala684dup) g.25967169_25967170insGCGGCG Copied from the Exome Variant Server ASXL2_000082 2/11012 2/7620 0/3392
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