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

41 entries on 1 page. Showing entries 1 - 41.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
+?/. _1 c.-91_-44del - r.(?) p.(=)
-?/. - c.-15-1790G>A likely benign r.(=) p.(=)
-/. - c.-15-1790G>A benign r.(=) p.(=)
-/. - c.-15-1790G>A benign r.(=) p.(=)
-?/. _1 c.-15-1790G>A - r.(=) p.(=)
-?/. - c.-15-1786G>A likely benign r.(=) p.(=)
-?/. - c.190T>C likely benign r.(?) p.(Ser64Pro)
-?/. - c.220C>T likely benign r.(?) p.(=)
?/. - c.653G>A VUS r.(?) p.(Arg218His)
-?/. - c.653G>A likely benign 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 likely benign r.(?) p.(=)
?/. - c.886G>A VUS r.(?) p.(Gly296Arg)
+/. 8 c.1016C>T - r.(?) p.(Pro339Leu)
-?/. - c.1045C>A likely benign r.(?) p.(Gln349Lys)
+/. 8 c.1123C>T - r.(?) p.(Arg375Cys)
-?/. 8i c.1169-157C>T - r.(=) p.(=)
-?/. 8i c.1169-157C>T - r.(=) p.(=)
?/. - c.1187T>C VUS 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 likely benign r.(?) p.(=)
+?/. 9 c.1354C>G - r.(?) p.(Arg452Gly)
+/. 9 c.1354C>T - r.(?) p.(Arg452Cys)
+/. 9 c.1354C>T - r.(?) p.(Arg452Cys)
+/. - c.1355G>A pathogenic r.(?) p.(Arg452His)
+?/. - c.1355G>T - r.(?) p.(Arg452Leu)
-/. - c.1559C>T benign r.(?) p.(Pro520Leu)
+/. 9 c.1559C>T - r.(?) p.(Pro520Leu)
-?/. - c.1676G>A likely benign r.(?) p.(Arg559His)
+?/. 11 c.1715G>A - r.(?) p.(Arg572His)
+?/. 11 c.1715G>A - r.(?) p.(Arg572His)
?/. - c.1718C>T VUS r.(?) p.(Ser573Phe)
-?/. - c.1718C>T likely benign r.(?) p.(Ser573Phe)
?/. - c.*1497G>A VUS r.(=) p.(=)
-?/. - c.*1894C>T likely benign r.(=) p.(=)
-?/. - c.*1992T>A likely benign r.(=) p.(=)
?/. - c.*2280C>T VUS r.(=) p.(=)
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