Transcript #00023873 (NM_001005360.2, DNM2 gene)

Transcript name transcript variant 1
Gene name DNM2 (dynamin 2)
Chromosome 19
Transcript - NCBI ID NM_001005360.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001005360.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

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

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
?/. - c.41A>G r.(?) p.(Asn14Ser)
-/. - c.190G>A r.(?) p.(Val64Ile)
?/. - c.190G>A r.(?) p.(Val64Ile)
?/. - c.190G>A r.(?) p.(Val64Ile)
-/. - c.235+6A>G r.(=) p.(=)
-/. - c.235+6A>G r.(=) p.(=)
-/. - c.235+6A>G r.(=) p.(=)
-/. - c.235+12C>A r.(=) p.(=)
?/. 2i c.235+12C>A r.(=) p.(=)
-/. - c.235+12C>A r.(=) p.(=)
-/. - c.235+12C>A r.(=) p.(=)
-/. 2i c.236-29C>G r.(=) p.(=)
-?/. - c.236-8C>G r.(=) p.(=)
-?/. - c.238C>T r.(?) p.(His80Tyr)
?/. - c.269A>G r.(?) p.(Lys90Arg)
?/. - c.292C>T r.(?) p.(Arg98Trp)
-/. - c.519T>C r.(?) p.(Ala173=)
+/. - c.596G>A r.(?) p.(Arg199Gln)
?/. - c.637G>T r.(?) p.(Gly213Cys)
-?/. - c.666C>T r.(?) p.(Asn222=)
-?/. - c.688+7C>T r.(=) p.(=)
+?/. - c.745C>T r.(?) p.(Arg249Cys)
-?/. - c.788C>T r.(?) p.(Pro263Leu)
+/. - c.851A>G r.(?) p.(Gln284Arg)
?/. - c.853C>G r.(?) p.(Leu285Val)
+?/. - c.869G>A r.(?) p.(Arg290Gln)
-?/. - c.881C>T r.(?) p.(Pro294Leu)
+?/. - c.890G>A r.(?) p.(Arg297His)
-?/. - c.992+11C>T r.(=) p.(=)
+/. - c.1072G>A r.(?) p.(Gly358Arg)
+/. 8 c.1072G>A r.(?) p.(Gly358Arg)
-/. - c.1077C>T r.(?) p.(Gly359=)
-/. 8 c.1077C>T r.(=) p.(=)
-/. - c.1077C>T r.(?) p.(Gly359=)
+?/. - c.1090C>T r.(?) p.(Arg364Cys)
+/. 8 c.1102G>A r.(?) p.(Glu368Lys)
+?/. 8 c.1102G>A r.(?) p.(Glu368Lys)
+/. 8 c.1102G>A r.(?) p.(Glu368Lys)
+/. - c.1102G>A r.(?) p.(Glu368Lys)
+?/. - c.1102G>A r.(?) p.(Glu368Lys)
+/. 8 c.1102G>A r.(?) p.(Glu368Lys)
+/. - c.1102G>A r.(?) p.(Glu368Lys)
+/. - c.1102G>A r.(?) p.(Glu368Lys)
+/. - c.1102G>A r.(?) p.(Glu368Lys)
+/. - c.1102G>A r.(?) p.(Glu368Lys)
+/. - c.1102G>A r.(?) p.(Glu368Lys)
+/. 8 c.1102G>C r.(?) p.(Glu368Gln)
+/. - c.1102G>C r.(?) p.(Glu368Gln)
+/. 8 c.1105C>T r.(?) p.(Arg369Trp)
+/. 8 c.1105C>T r.(?) p.(Arg369Trp)
+/. 8 c.1105C>T r.(?) p.(Arg369Trp)
+?/. - c.1105C>T r.(?) p.(Arg369Trp)
+?/. - c.1105C>T r.(?) p.(Arg369Trp)
+/. - c.1105C>T r.(?) p.(Arg369Trp)
+/. 8 c.1106G>A r.(?) p.(Arg369Gln)
+?/. - c.1106G>A r.(?) p.(Arg369Gln)
+/. - c.1106G>A r.(?) p.(Arg369Gln)
+?/. - c.1106G>A r.(?) p.(Arg369Gln)
+?/. 8 c.1115T>C r.(?) p.(Phe372Ser)
-?/. - c.1218C>T r.(?) p.(Asp406=)
-/. - c.1335+13C>T r.(=) p.(=)
-?/. - c.1336-1085C>T r.(=) p.(=)
-?/. - c.1336-1085C>T r.(=) p.(=)
+?/. - c.1336-1012dup r.? p.?
+?/. - c.1373G>A r.(?) p.(Arg458Gln)
?/. - c.1384A>G r.(?) p.(Thr462Ala)
+/. 11 c.1393C>T r.(?) p.(Arg465Trp)
+/. 11 c.1393C>T r.(?) p.(Arg465Trp)
+/. 11 c.1393C>T r.(?) p.(Arg465Trp)
+/. 11 c.1393C>T r.(?) p.(Arg465Trp)
+/. 11 c.1393C>T r.(?) p.(Arg465Trp)
+/. 11 c.1393C>T r.(?) p.(Arg465Trp)
+/. 11 c.1393C>T r.(?) p.(Arg465Trp)
+?/. - c.1393C>T r.(?) p.(Arg465Trp)
+/. - c.1393C>T r.(?) p.(Arg465Trp)
+/. - c.1393C>T r.(?) p.(Arg465Trp)
+/. - c.1393C>T r.(?) p.(Arg465Trp)
+/. - c.1393C>T r.(?) p.(Arg465Trp)
+/. - c.1393C>T r.(?) p.(Arg465Trp)
+/. - c.1393C>T r.(?) p.(Arg465Trp)
+/. - c.1393C>T r.(?) p.(Arg465Trp)
+/. - c.1393C>T r.(?) p.(Arg465Trp)
-/. - c.1423-12G>A r.(=) p.(=)
+?/. - c.1483G>A r.(?) p.(Gly495Arg)
+?/. - c.1483G>A r.(?) p.(Gly495Arg)
-?/. - c.1545+14C>G r.(=) p.(=)
?/. 13i c.1545+86C>G r.(=) p.(=)
+?/. - c.1559T>G r.(?) p.(Val520Gly)
+?/. - c.1565G>A r.(?) p.(Arg522His)
+/. 15 c.1565G>A r.(?) p.(Arg522His)
+?/. - c.1565G>A r.(?) p.(Arg522His)
+/. 15 c.1565G>A r.(?) p.(Arg522His)
?/. - c.1609G>A r.(?) p.(Gly537Ser)
?/. - c.1609G>A r.(?) p.(Gly537Ser)
+/. 15 c.1609G>T r.(?) p.(Gly537Cys)
+/. - c.1609G>T r.(?) p.(Gly537Cys)
?/. - c.1619A>G r.(?) p.(Glu540Gly)
+/. 15_15i c.1664_1671+1del r.1663_1671del p.[Asp555_Glu558del, Asp555Glyfs*12]
+/. 16 c.1675_1677del r.(?) p.(Lys559del)
+?/. - c.1678G>A r.(?) p.(Glu560Lys)
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