Transcript #00000527

Transcript name transcript variant 1
Gene name ALAS2 (aminolevulinate, delta-, synthase 2)
Chromosome X
Transcript - NCBI ID NM_000032.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_000023.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

52 entries on 1 page. Showing entries 1 - 52.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+?/. _1 c.-91_-44del r.(?) p.(=)
-?/. - c.-15-1790G>A r.(=) p.(=)
-/. - c.-15-1790G>A r.(=) p.(=)
-/. - c.-15-1790G>A r.(=) p.(=)
-?/. _1 c.-15-1790G>A r.(=) p.(=)
-?/. - c.-15-1786G>A r.(=) p.(=)
-?/. - c.121C>G r.(?) p.(Leu41Val)
-?/. - c.190T>C r.(?) p.(Ser64Pro)
-?/. - c.220C>T r.(?) p.(Leu74=)
-?/. - c.231C>A r.(?) p.(Leu77=)
-?/. - c.431G>A r.(?) p.(Ser144Asn)
?/. - c.653G>A r.(?) p.(Arg218His)
-?/. - c.653G>A r.(?) p.(Arg218His)
+/. 6 c.653G>A r.(?) p.(Arg218His)
?/. 6 c.724G>A r.(?) p.(Glu242Lys)
+/. 6 c.787G>A r.(?) p.(Asp263Asn)
-?/. - c.828C>T r.(?) p.(Cys276=)
?/. - c.886G>A r.(?) p.(Gly296Arg)
+/. 8 c.1016C>T r.(?) p.(Pro339Leu)
-?/. - c.1045C>A r.(?) p.(Gln349Lys)
+/. 8 c.1123C>T r.(?) p.(Arg375Cys)
+?/. - c.1136T>C r.(?) p.(Met379Thr)
-?/. 8i c.1169-157C>T r.(=) p.(=)
-?/. 8i c.1169-157C>T r.(=) p.(=)
?/. - c.1187T>C r.(?) p.(Val396Ala)
+/. 9 c.1231C>T r.(?) p.(Arg411Cys)
+/. 9 c.1232G>A r.(?) p.(Arg411His)
+/. 9 c.1232G>A r.(?) p.(Arg411His)
-?/. - c.1233C>G r.(?) p.(Arg411=)
+?/. 9 c.1354C>G r.(?) p.(Arg452Gly)
+/. 9 c.1354C>T r.(?) p.(Arg452Cys)
+/. 9 c.1354C>T r.(?) p.(Arg452Cys)
+/. - c.1355G>A r.(?) p.(Arg452His)
+?/. - c.1355G>T r.(?) p.(Arg452Leu)
?/. - c.1447G>A r.(?) p.(Ala483Thr)
-/. - c.1559C>T r.(?) p.(Pro520Leu)
?/. - c.1559C>T r.(?) p.(Pro520Leu)
?/. - c.1559C>T r.(?) p.(Pro520Leu)
+/. 9 c.1559C>T r.(?) p.(Pro520Leu)
-?/. - c.1567C>T r.(?) p.(His523Tyr)
-?/. - c.1676G>A r.(?) p.(Arg559His)
-?/. - c.1684G>A r.(?) p.(Val562Ile)
+?/. 11 c.1715G>A r.(?) p.(Arg572His)
+?/. 11 c.1715G>A r.(?) p.(Arg572His)
?/. - c.1718C>T r.(?) p.(Ser573Phe)
-?/. - c.1718C>T r.(?) p.(Ser573Phe)
-?/. - c.1718C>T r.(?) p.(Ser573Phe)
?/. - c.*1497G>A r.(=) p.(=)
-?/. - c.*1894C>T r.(=) p.(=)
-?/. - c.*1992T>A r.(=) p.(=)
?/. - c.*2108C>A r.(=) p.(=)
?/. - c.*2280C>T r.(=) p.(=)
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