Transcript #00000033 (NM_020919.3, ALS2 gene)

Transcript name transcript variant 1
Gene name ALS2 (amyotrophic lateral sclerosis 2 (juvenile))
Chromosome 2
Transcript - NCBI ID NM_020919.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_065970.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

25 entries on 1 page. Showing entries 1 - 25.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
./. 2i c.20+7T>C r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
./. 4 c.280A>G r.(?) p.(Ile94Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 4 c.475G>A r.(?) p.(Glu159Lys) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 4 c.553delA r.(?) p.(Thr185Leufs*5) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
./. 4 c.774_775delAT r.(?) p.(Leu259Argfs*22) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
?/. 4 c.1102G>A r.(1102g>a) p.(Val368Met) - -
./. 4 c.1102G>A r.(?) p.(Val368Met) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 4i c.1114-27A>G r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
./. 6 c.1533C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
./. 6 c.1548_1549delAG r.(?) p.(Glu516Aspfs*31) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
./. 9 c.1867_1868delCT r.(?) p.(Leu623Valfs*24) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
./. 9i c.1998+151C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
?/. 10 c.2110C>T r.(2110c>u) p.(Arg704*) - -
./. 11 c.2241C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
./. 13 c.2466G>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
./. 15 c.2796C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
./. 17i c.2980-18G>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
./. 20i c.3348-75A>G r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
./. 21 c.3386delA r.(?) p.(Asp1129Valfs*15) VariO:0141 DNA deletion VariO:0023 amphigoric amino acid indel
./. 22i c.3625-24delT r.(=) p.(=) VariO:0141 DNA deletion -
./. 24 c.3741T>G r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion -
./. 26 c.4015C>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition -
./. 29i c.4580+7G>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
./. 29i c.4580+7G>A r.(=) p.(=) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition -
./. 31i c.4689-69A>T r.(=) p.(=) VariO:0136 DNA substitution; VariO:0316 transversion -
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