Transcript #00000031 (NM_014043.3, CHMP2B gene)

Transcript name transcript variant 1
Gene name CHMP2B (charged multivesicular body protein 2B)
Chromosome 3
Transcript - NCBI ID NM_014043.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_054762.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

11 entries on 1 page. Showing entries 1 - 11.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

Variant/VariO/DNA     

Variant/VariO/protein     
?/. 5'UTR c.-151C>A r.(-151c>a) p.(=) - -
./. 2 c.85A>G r.(?) p.(Ile29Val) - -
./. 2 c.85A>G r.(?) p.(Ile29Val) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
+/. 2 c.85A>G r.(85a>g) p.(Ile29Val) - -
+/. 3 c.311C>A r.(311c>a) p.(Thr104Asn) - -
./. 5i c.532-1G>C r.spl? p.? VariO:0136 DNA substitution; VariO:0316 transversion -
./. 6 c.541G>A r.(?) p.(Ala181Thr) - -
./. 6 c.560G>A r.(?) p.(Ser187Asn) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0315 purine transition VariO:0021 amino acid substitution
./. 6 c.581C>T r.(?) p.(Ser194Leu) VariO:0136 DNA substitution; VariO:0313 transition; VariO:0314 pyrimidine transition VariO:0021 amino acid substitution
./. 6 c.618A>C r.(?) p.(Gln206His) VariO:0136 DNA substitution; VariO:0316 transversion VariO:0021 amino acid substitution
+/. 6 c.623A>C r.(623a>c) p.(Lys208Thr) - -
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