Transcript #00003115

Transcript name ATPase, H+ transporting, lysosomal V0 subunit a2
Gene name ATP6V0A2 (ATPase, H+ transporting, lysosomal V0 subunit a2)
Chromosome 12
Transcript - NCBI ID NM_012463.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_036595.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

66 entries on 1 page. Showing entries 1 - 66.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
-?/. - c.-4906T>C r.(?) p.(=)
-/. - c.-14C>T r.(?) p.(=)
-/. - c.-14C>T r.(?) p.(=)
-/. - c.-14C>T r.(?) p.(=)
+?/. - c.2T>C r.(?) p.(Met1?)
+?/. 1 c.3G>C r.(?) p.(Met1?)
?/. - c.26C>T r.(?) p.(Thr9Ile)
-/. - c.117+14G>A r.(=) p.(=)
?/. - c.230T>G r.(?) p.(Ile77Ser)
?/. - c.380A>T r.(?) p.(Glu127Val)
-?/. - c.422G>T r.(?) p.(Arg141Leu)
-?/. - c.422G>T r.(?) p.(Arg141Leu)
-/. - c.426T>C r.(?) p.(Asn142=)
-/. - c.426T>C r.(?) p.(Asn142=)
-/. - c.432+14C>T r.(=) p.(=)
-/. - c.432+14C>T r.(=) p.(=)
-/. - c.471T>C r.(?) p.(Ser157=)
-/. - c.471T>C r.(?) p.(Ser157=)
-/. - c.471T>C r.(?) p.(Ser157=)
-?/. - c.614C>T r.(?) p.(Ala205Val)
-?/. - c.658A>G r.(?) p.(Ile220Val)
-/. - c.732-23T>C r.(=) p.(=)
-?/. - c.769G>A r.(?) p.(Glu257Lys)
?/. - c.920C>G r.(?) p.(Ala307Gly)
-/. - c.1016G>A r.(?) p.(Arg339His)
-?/. - c.1016G>A r.(?) p.(Arg339His)
-/. - c.1039-13G>T r.(=) p.(=)
+?/. 10 c.1101dup r.(?) p.(Thr368Hisfs*65)
?/. - c.1111C>T r.(?) p.(Arg371Cys)
-/. - c.1121A>G r.(?) p.(Lys374Arg)
-?/. - c.1121A>G r.(?) p.(Lys374Arg)
-?/. - c.1179A>G r.(?) p.(Glu393=)
?/. - c.1258G>T r.(?) p.(Val420Leu)
-?/. - c.1258G>T r.(?) p.(Val420Leu)
-?/. - c.1486G>A r.(?) p.(Ala496Thr)
-?/. - c.1486G>A r.(?) p.(Ala496Thr)
-?/. - c.1495A>G r.(?) p.(Lys499Glu)
-/. - c.1514+2T>C r.spl? p.?
?/. - c.1515-3_1515-2del r.spl? p.?
-/. - c.1515T>C r.(?) p.(Asn505=)
-/. - c.1515T>C r.(?) p.(Asn505=)
-?/. - c.1524C>T r.(?) p.(Val508=)
-?/. - c.1590C>T r.(?) p.(Pro530=)
-?/. - c.1606-19T>C r.(=) p.(=)
-/. - c.1606-12G>A r.(=) p.(=)
?/. - c.1766C>T r.(?) p.(Pro589Leu)
?/. - c.1941T>A r.(?) p.(Tyr647Ter)
?/. - c.1948A>G r.(?) p.(Arg650Gly)
?/. - c.2055+8C>T r.(=) p.(=)
-?/. - c.2229T>C r.(?) p.(Cys743=)
-?/. - c.2238C>T r.(?) p.(Cys746=)
-?/. - c.2438C>T r.(?) p.(Ala813Val)
-/. - c.2438C>T r.(?) p.(Ala813Val)
-/. - c.2438C>T r.(?) p.(Ala813Val)
-?/. - c.2438C>T r.(?) p.(Ala813Val)
-/. - c.2466-3del r.spl? p.?
-/. - c.2466-3dup r.spl? p.?
?/. - c.2466-2A>T r.spl? p.?
-/. - c.2466-2A>T r.spl? p.?
-?/. - c.2466-2_2467del r.spl? p.?
-?/. - c.2466-1G>T r.spl? p.?
-?/. - c.2466G>T r.(?) p.(Trp822Cys)
-?/. - c.2467G>T r.(?) p.(Val823Leu)
-?/. - c.2468_2469insTTTT r.(?) p.(Glu824PhefsTer29)
?/. - c.2549A>G r.(?) p.(Asn850Ser)
-?/. - c.2549A>G r.(?) p.(Asn850Ser)
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