All variants in the ALS2 gene

Information The variants shown are described using the NM_020919.3 transcript reference sequence.

25 entries on 1 page. Showing entries 1 - 25.
Legend   How to query  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

Frequency     

Owner     
./. 2i c.20+7T>C r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition - g.202633582A>G Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000020 - Y Yang
./. 4 c.280A>G r.(?) p.(Ile94Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.202626437T>C Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000002 - Y Yang
./. 4 c.475G>A r.(?) p.(Glu159Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.202626242C>T Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000013 - Y Yang
./. 4 c.553delA r.(?) p.(Thr185Leufs*5) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.202626164delT Kress JA1, Kühnlein P, Winter P, Ludolph AC, Kassubek J, Müller U, Sperfeld AD.(2005) ALS2_000012 - Y Yang
./. 4 c.774_775delAT r.(?) p.(Leu259Argfs*22) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.202625942_202625943delAT Eymard-Pierre E1, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E, Boespflug-Tanguy O.(2002) ALS2_000010 - Y Yang
./. 4 c.1102G>A r.(?) p.(Val368Met) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution g.202625615C>T Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000008 - Y Yang
?/. 4 c.1102G>A r.(1102g>a) p.(Val368Met) - - g.202625615C>T Hiroyuki Tomiyama, Yasumasa Kokubo, Ryogen Sasaki, et al. ALS2_000008 - XY Liu
./. 4i c.1114-27A>G r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.202622509T>C Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000021 - Y Yang
./. 6 c.1533C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition - g.202619333G>A Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000011 - Y Yang
./. 6 c.1548_1549delAG r.(?) p.(Glu516Aspfs*31) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.202619317_202619318delCT Hadano S1, Hand CK, Osuga H, Yanagisawa Y, Otomo A, Devon RS, Miyamoto N, Showguchi-Miyata J, Okada Y, Singaraja R, Figlewicz DA, Kwiatkowski T, Hosler BA, Sagie T, Skaug J, Nasir J, Brown RH Jr, Scherer SW, Rouleau GA, Hayden MR(2001) ALS2_000005 - Y Yang
./. 9 c.1867_1868delCT r.(?) p.(Leu623Valfs*24) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.202611419_202611420delAG Yang Y1, Hentati A, Deng HX, Dabbagh O, Sasaki T, Hirano M, Hung WY, Ouahchi K, Yan J, Azim AC, Cole N, Gascon G, Yagmour A, Ben-Hamida M, Pericak-Vance M, Hentati F, Siddique T.(2001) ALS2_000014 - Y Yang
./. 9i c.1998+151C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition - g.202611138G>A Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000022 - Y Yang
?/. 10 c.2110C>T r.(2110c>u) p.(Arg704*) - - g.202609041G>A Yousef Daneshmandpour, et al. (2023) ALS2_000026 - XY Liu
./. 11 c.2241C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition - g.202606507G>A Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000009 - Y Yang
./. 13 c.2466G>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.202598113C>T Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000007 - Y Yang
./. 15 c.2796C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition - g.202593280G>A Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000004 - Y Yang
./. 17i c.2980-18G>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.202591607C>T Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000023 - Y Yang
./. 20i c.3348-75A>G r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.202589257T>C Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000024 - Y Yang
./. 21 c.3386delA r.(?) p.(Asp1129Valfs*15) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel g.202589144delT Eymard-Pierre E1, Lesca G, Dollet S, Santorelli FM, di Capua M, Bertini E, Boespflug-Tanguy O.(2002) ALS2_000003 - Y Yang
./. 22i c.3625-24delT r.(=) p.(=) VariO:0141 DNA deletion - g.202587867delA - ALS2_000019 - Y Yang
./. 24 c.3741T>G r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion - g.202582895A>C Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000006 - Y Yang
./. 26 c.4015C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition - g.202575821G>A Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000001 - Y Yang
./. 29i c.4580+7G>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.202571562C>T Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000025 - Y Yang
./. 29i c.4580+7G>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition - g.202571562C>T Gamez J1, Barceló MJ, Mu?oz X, Carmona F, Cuscó I, Baiget M, Cervera C, Tizzano EF.(2002) ALS2_000025 - Y Yang
./. 31i c.4689-69A>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion - g.202569395T>A - ALS2_000016 - Y Yang
Legend   How to query