Transcript #00014992 (NM_000275.2, OCA2 gene)

Transcript name oculocutaneous albinism II
Gene name OCA2 (oculocutaneous albinism II)
Chromosome 15
Transcript - NCBI ID NM_000275.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_000266.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

103 entries on 2 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_19i c.-85112_2080-26697del r.0 p.0
+?/. _1 c.-21270T>C r.(=) p.(=)
+?/. _1 c.-21270T>C r.(=) p.(=)
?/. - c.29G>A r.(?) p.(Arg10Gln)
-/. - c.36C>T r.(?) p.(Pro12=)
-?/. - c.45G>A r.(?) p.(Pro15=)
-?/. - c.58C>T r.(?) p.(Leu20=)
-/. - c.79G>A r.(?) p.(Gly27Arg)
+/. - c.157del r.(?) p.(Arg53GlyfsTer49)
+?/. 2 c.157del r.(?) p.(Arg53Glyfs*49)
+/. - c.163del r.(?) p.(Ala55LeufsTer47)
+/. - c.163del r.(?) p.(Ala55LeufsTer47)
+/. - c.163del r.(?) p.(Ala55LeufsTer47)
-/. - c.216C>G r.(?) p.(Leu72=)
+/. - c.316del r.(?) p.(Gln106ArgfsTer35)
+/. 4 c.403G>T r.(?) p.(Glu135*)
-?/. - c.492C>T r.(?) p.(Ile164=)
-?/. - c.515+10C>G r.(=) p.(=)
?/. - c.516-3C>G r.spl? p.?
?/. - c.574-19A>G r.(=) p.(=)
?/. - c.593C>T r.(?) p.(Pro198Leu)
+?/. - c.632C>T r.(?) p.(Pro211Leu)
?/. - c.632C>T r.(?) p.(Pro211Leu)
-?/. - c.647-4C>T r.spl? p.?
-/. - c.678G>A r.(?) p.(Thr226=)
-/. - c.696G>C r.(?) p.(Leu232=)
?/. - c.727C>T r.(?) p.(Arg243Cys)
-?/. - c.751G>A r.(?) p.(Val251Met)
+?/. - c.868A>G r.(?) p.(Arg290Gly)
+/. - c.898dup r.(?) p.(Val300GlyfsTer49)
+?/. 9 c.913C>T r.(?) p.(Arg305Trp)
+?/. 9 c.913C>T r.(?) p.(Arg305Trp)
+?/. 9 c.913C>T r.(?) p.(Arg305Trp)
-/. - c.913C>T r.(?) p.(Arg305Trp)
-/. - c.1007C>T r.(?) p.(Ala336Val)
-?/. - c.1020C>T r.(?) p.(Gly340=)
?/. - c.1025A>G r.(?) p.(Tyr342Cys)
?/. - c.1025A>G r.(?) p.(Tyr342Cys)
-/. - c.1026C>T r.(?) p.(Tyr342=)
-/. - c.1065G>A r.(?) p.(Ala355=)
?/. - c.1103C>T r.(?) p.(Ala368Val)
?/. - c.1117-17T>C r.(=) p.(=)
-/. - c.1182+18C>T r.(=) p.(=)
-/. - c.1183-4A>G r.spl? p.?
+?/. - c.1211C>T r.(?) p.(Thr404Met)
+?/. - c.1211C>T r.(?) p.(Thr404Met)
+/. 12 c.1228_1231del r.(?) p.(Cys410Leufs*2)
-/. - c.1256G>A r.(?) p.(Arg419Gln)
?/. - c.1261C>T r.(?) p.(Arg421Trp)
+/. - c.1268G>A r.(?) p.(Trp423Ter)
-?/. - c.1303G>A r.(?) p.(Val435Ile)
?/. - c.1320G>C r.(?) p.(Leu440Phe)
+?/. - c.1327G>A r.(?) p.(Val443Ile)
+?/. - c.1327G>A r.(?) p.(Val443Ile)
+?/. - c.1327G>A r.(?) p.(Val443Ile)
+?/. - c.1327G>A r.(?) p.(Val443Ile)
+/. - c.1327G>A r.(?) p.(Val443Ile)
+?/. - c.1327G>A r.(?) p.(Val443Ile)
+/. - c.1327G>A r.(?) p.(Val443Ile)
+?/. - c.1327G>A r.(?) p.(Val443Ile)
-/. - c.1365-15C>T r.(=) p.(=)
?/. - c.1378C>T r.(?) p.(Leu460Phe)
?/. - c.1382A>G r.(?) p.(Asn461Ser)
?/. - c.1427A>G r.(?) p.(Asn476Ser)
?/. - c.1441G>A r.(?) p.(Ala481Thr)
-/. - c.1441G>A r.(?) p.(Ala481Thr)
+/. - c.1465A>G r.(?) p.(Asn489Asp)
+?/. - c.1465A>G r.(?) p.(Asn489Asp)
+/. - c.1465A>G r.(?) p.(Asn489Asp)
+/. - c.1465A>G r.(?) p.(Asn489Asp)
+?/. - c.1503+5G>A r.spl? p.?
+/. - c.1504-2A>G r.spl? p.?
-/. - c.1551C>T r.(?) p.(Cys517=)
?/. - c.1592A>G r.(?) p.(Tyr531Cys)
-/. - c.1679G>A r.(?) p.(Arg560His)
?/. - c.1688C>T r.(?) p.(Pro563Leu)
?/. - c.1762C>T r.(?) p.(Arg588Trp)
-/. - c.1842+17C>T r.(=) p.(=)
-?/. - c.1857C>T r.(?) p.(Asp619=)
-/. - c.1857C>T r.(?) p.(Asp619=)
?/. - c.1901T>A r.(?) p.(Ile634Asn)
?/. - c.1973C>G r.(?) p.(Ala658Gly)
?/. - c.2020C>G r.(?) p.(Leu674Val)
+?/. - c.2037G>C r.(?) p.(Trp679Cys)
+?/. - c.2055del r.(?) p.(Phe685Leufs*7)
?/. - c.2096A>C r.(?) p.(His699Pro)
-/. - c.2208G>T r.(?) p.(Ser736=)
+?/. - c.2228C>T r.(?) p.(Pro743Leu)
+/. - c.2228C>T r.(?) p.(Pro743Leu)
?/. - c.2293G>A r.(?) p.(Ala765Thr)
?/. - c.2293G>A r.(?) p.(Ala765Thr)
-/. - c.2304C>T r.(?) p.(Leu768=)
-/. - c.2328T>C r.(?) p.(Ala776=)
?/. - c.2339G>A r.(?) p.(Gly780Asp)
+?/. 23 c.2359G>A r.(?) p.(Ala787Thr)
+?/. 23 c.2359G>A r.(?) p.(Ala787Thr)
+?/. - c.2360C>T r.(?) p.(Ala787Val)
?/. - c.2399A>C r.(?) p.(His800Pro)
?/. - c.2402G>T r.(?) p.(Gly801Val)
?/. - c.2425T>A r.(?) p.(Phe809Ile)
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