Transcript #00000008 (NM_206933.2, USH2A gene)

Transcript name Usher syndrome 2A (autosomal recessive, mild), transcript variant 2
Gene name USH2A (Usher syndrome 2A (autosomal recessive, mild))
Chromosome 1
Transcript - NCBI ID NM_206933.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_996816.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

11187 entries on 112 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

P-domain     
+/. - c.1841-2 A>G r.spl p.(Gly614Aspfs*6) -
+/. - c.? r.? p.? -
+/. - c.? r.? p.(C3425Ffs*4) -
+?/. - c.? r.? p.? -
+/. - c.? r.? p.? -
+?/. 21i_49i c.? r.? p.? -
+/. - c.? r.? p.? -
+/. - c.? r.? p.? -
+?/. 27i_30i c.? r.? p.? -
+?/. - c.? r.? p.? -
+?/. - c.? r.? p.? -
+/. - c.? r.? p.? -
+/. - c.? r.? p.? -
+/. - c.? r.? p.? -
+?/. - c.? r.? p.? -
+/. - c.? r.? p.? -
+/. - c.? r.? p.? -
+?/. - c.? r.? p.? -
+/. - c.? r.? p.? -
+/. - c.? r.? p.? -
+?/. 22i_32i c.? r.? p? -
+?/. 30i_35i c.? r.? p? -
+?/. 22i_32i c.? r.? p? -
+?/. 22i_32i c.? r.? p? -
-/- _1 c.-2202C>T r.(=) p.(=) -
-/- _1 c.-2202C>T r.(=) p.(=) -
-/- _1 c.-2202C>T r.(=) p.(=) -
-/- _1 c.-2202C>T r.(=) p.(=) -
-/- _1 c.-2202C>T r.(=) p.(=) -
-/- _1 c.-2202C>T r.(=) p.(=) -
-/- _1 c.-2202C>T r.(=) p.(=) -
-/- _1 c.-2202C>T r.(=) p.(=) -
-/- _1 c.-1707A>G r.(=) p.(=) -
-/- _1 c.-1707A>G r.(=) p.(=) -
-/- _1 c.-1707A>G r.(=) p.(=) -
-/- _1 c.-1707A>G r.(=) p.(=) -
-/- _1 c.-1707A>G r.(=) p.(=) -
-/- _1 c.-1707A>G r.(=) p.(=) -
-/- _1 c.-1707A>G r.(=) p.(=) -
-/- _1 c.-1707A>G r.(=) p.(=) -
-/- _1 c.-1689C>A r.(=) p.(=) -
-/- _1 c.-1689C>A r.(=) p.(=) -
-/- _1 c.-1689C>A r.(=) p.(=) -
-/- _1 c.-1689C>A r.(=) p.(=) -
-/- _1 c.-1689C>A r.(=) p.(=) -
-/- _1 c.-1689C>A r.(=) p.(=) -
-/- _1 c.-1689C>A r.(=) p.(=) -
-/- _1 c.-1689C>A r.(=) p.(=) -
-/- _1 c.-1408T>C r.(=) p.(=) -
-/- _1 c.-1408T>C r.(=) p.(=) -
-/- _1 c.-1408T>C r.(=) p.(=) -
-/- _1 c.-1408T>C r.(=) p.(=) -
-/- _1 c.-1408T>C r.(=) p.(=) -
-/- _1 c.-1408T>C r.(=) p.(=) -
-/- _1 c.-1408T>C r.(=) p.(=) -
-/- _1 c.-1408T>C r.(=) p.(=) -
+/. 4i_9i c.(784+1_749-1)_(1644++1_1645-1)del r.? p.? -
+/. - c.? r.? p.? -
?/. - c.1A>G r.(?) p.(Met1?) -
?/. - c.60G>C r.(?) p.(Leu20Phe) -
+/+ 2 c.72T>G r.(?) p.(Tyr24*) Signal peptide (1-31)
+/+ 2 c.72T>G r.(?) p.(Tyr24*) Signal peptide (1-31)
-/. - c.78T>C r.(?) p.(Ala26=) -
+/+ 2 c.83del r.(?) p.(Ile28Asnfs*3) Signal peptide (1-31)
+/+ 2 c.83del r.(?) p.(Ile28Asnfs*3) Signal peptide (1-31)
+/+ 2 c.98_99insT r.(?) p.(Arg34Thrfs*41) -
+/+ 2 c.98_99insT r.(?) p.(Arg34Thrfs*41) -
+/+ 2 c.99_100insT r.(?) p.(Arg34Serfs*41) -
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) -
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) -
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) -
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) -
+/. - c.99_100insT r.(?) p.(Arg34Serfs*41) -
+/+ 2 c.100C>T r.(?) p.(Arg34*) -
+/+ 2 c.100C>T r.(?) p.(Arg34*) -
+/+ 2 c.100C>T r.(?) p.(Arg34*) -
+/+ 2 c.100C>T r.(?) p.(Arg34*) -
+?/. - c.100C>T r.(?) p.(Arg34*) -
+/+ 2 c.100C>T r.(?) p.(Arg34*) -
+/. - c.100C>T r.(?) p.(Arg34*) -
+/+ 2 c.100C>T r.(?) p.(Arg34*) -
+/+ 2 c.100C>T r.(?) p.(Arg34*) -
+/+ 2 c.100C>T r.(?) p.(Arg34*) -
+/+ 2 c.100C>T r.(?) p.(Arg34*) -
+/+ 2 c.100C>T r.(?) p.(Arg34*) -
+/+ 2 c.100C>T r.(?) p.(Arg34*) -
+/+ 2 c.100C>T r.(?) p.(Arg34*) -
+/+ 2 c.100_101insT r.(?) p.(Arg34Leufs*41) -
+/+ 2 c.100_101insT r.(?) p.(Arg34Leufs*41) -
+/+ 2 c.100_101insT r.(?) p.(Arg34Leufs*41) -
+/+ 2 c.100_101insT r.(?) p.(Arg34Leufs*41) -
+/+ 2 c.100_101insT r.(?) p.(Arg34Leufs*41) -
+/. - c.126C>G r.(?) p.(Asn42Lys) -
+?/? 2 c.130G>A r.(?) p.(Gly44Arg) -
+/. 2 c.174T>A r.(?) p.(Cys58*) -
+?/? 2 c.176G>A r.(?) p.(Gly59Glu) -
+/. 2 c.187C>T r.(?) p.(Arg63*) -
+/. 2 c.187C>T r.(?) p.(Arg63*) -
+/+ 2 c.187C>T r.(?) p.(Arg63*) -
+/+ 2 c.187C>T r.(?) p.(Arg63*) -
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