Transcript #00009466 (NM_003483.4, HMGA2 gene)

Transcript name transcript variant 1
Gene name HMGA2 (high mobility group AT-hook 2)
Chromosome 12
Transcript - NCBI ID NM_003483.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_003474.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -
Date created 0000-00-00 00:00:00 +00:19 (LMT)
Date last edited N/A


Variants

39 entries on 1 page. Showing entries 1 - 39.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. _1_2i c.-1644_198+2797del r.0? p.0?
?/. - c.(?_-1)_(*1_?)del r.0 p.0
+/. _1_5_ c.-811_*2999{0} r.0 p.0
?/. - c.6C>A r.(?) p.(Ser2Arg)
?/. - c.7G>C r.(?) p.(Ala3Pro)
+?/. - c.49G>T r.(?) p.(Gly17*)
?/. - c.55C>T r.(?) p.(Pro19Ser)
?/. - c.94C>A r.(?) p.(Pro32Thr)
?/. - c.105G>C r.(?) p.(Gln35His)
-?/. - c.112-14dup r.(=) p.(=)
-?/. - c.112-14T>C r.(=) p.(=)
+?/. - c.112-2A>G r.spl? p.?
+/. - c.138_141delinsCT r.(?) p.(Lys46Asnfs*16)
+?/. - c.144del r.(?) p.(Arg49GlyfsTer117)
-?/. - c.180C>T r.(?) p.(Pro60=)
+/. 2 c.189del r.(?) p.(Ala64Leufs*102)
+/. 2 c.193C>T r.(?) p.(Gln65*)
-?/. - c.195A>G r.(?) p.(Gln65=)
?/. - c.199-15C>A r.(=) p.(=)
-/. - c.199-8A>G r.(=) p.(=)
+?/. - c.223C>T r.(?) p.(Arg75Trp)
?/. - c.224G>A r.(?) p.(Arg75Gln)
?/. - c.224G>A r.(?) p.(Arg75Gln)
?/. - c.242G>T r.(?) p.(Arg81Met)
-/. - c.249+6T>A r.(=) p.(=)
-?/. - c.249+19T>C r.(=) p.(=)
?/. - c.249+46741T>C r.(?) p.(=)
+/. - c.250-51511T>G r.(=) p.(=)
-/. - c.250-36519A>G r.(=) p.(=)
-?/. - c.250-36330C>A r.(=) p.(=)
-?/. - c.250-36277A>C r.(=) p.(=)
-?/. - c.250-36267A>G r.(=) p.(=)
-?/. - c.274C>G r.(?) p.(Pro92Ala)
-?/. - c.282+933T>C r.(=) p.(=)
+/. 4i c.283-6_283del r.spl p.?
+/. 4i c.283-6_283del r.spl p.?
+?/. - c.299dup r.(?) p.(Ser101Ilefs*116)
+?/. - c.311_312del r.(?) p.(Glu104ValfsTer112)
-?/. - c.315T>C r.(?) p.(=)
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