Transcript #00010358 (NM_000238.3, KCNH2 gene)

Transcript name transcript variant 1
Gene name KCNH2 (potassium voltage-gated channel, subfamily H (eag-related), member 2)
Chromosome 7
Transcript - NCBI ID NM_000238.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_000229.1
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

1169 entries on 12 pages. Showing entries 1 - 100.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.-401_*409{0} r.? p.?
-?/. - c.-43_-39dup r.(?) p.(=)
-?/. - c.-12_-11insGGCCGGCCC r.(?) p.(=)
+/. 13 c.(3002ˆ3003)G>A r.(?) p.(Trp1001*)
+/. _1_15_ c.-401_*409{0} r.0 p.0
+/. 1 c.2T>G r.(?) p.0?
?/. - c.16G>A r.(?) p.(Gly6Ser)
?/. 1 c.38C>A r.(?) p.(Thr13Asn)
?/. - c.44T>A r.(?) p.(Leu15Gln)
?/. 1 c.45_56del r.(?) p.(Asp16_Ile19del)
-?/. - c.51C>G r.(?) p.(Thr17=)
-/. - c.51C>G r.(?) p.(Thr17=)
-?/. - c.51C>G r.(?) p.(Thr17=)
?/. 1 c.56T>C r.(?) p.(Ile19Thr)
?/. - c.59G>T r.(?) p.(Arg20Leu)
?/. 1 c.59G>T r.(?) p.(Arg20Leu)
-?/. - c.76+12A>G r.(=) p.(=)
-/. - c.77-5C>G r.spl? p.?
-?/. - c.77-5C>G r.spl? p.?
+/. 2 c.77G>T r.(?) p.(Ser26Ile)
+/. 2 c.77_78delinsTT r.(?) p.(Ser26Ile)
+/. 2 c.81del r.(?) p.(Lys28Serfs*32)
?/. - c.82A>G r.(?) p.(Lys28Glu)
+/. 2 c.82A>G r.(?) p.(Lys28Glu)
?/. 2 c.87C>A r.(?) p.(Phe29Leu)
+/. 2 c.87C>A r.(?) p.(Phe29Leu)
+/. 2 c.87C>A r.(?) p.(Phe29Leu)
+/. 2 c.87C>A r.(?) p.(Phe29Leu)
+/. 2 c.87C>A r.(?) p.(Phe29Leu)
+/. 2 c.92T>G r.(?) p.(Ile31Ser)
-/. 2 c.98A>C r.(?) p.(Asn33Thr)
-/- 2 c.98A>C r.(?) p.(Asn33Thr)
+/. 2 c.98A>C r.(?) p.(Asn33Thr)
+/. 2 c.98A>C r.(?) p.(Asn33Thr)
-/. - c.120C>T r.(?) p.(Ala40=)
?/. 2 c.125T>G r.(?) p.(Ile42Ser)
?/. 2 c.127T>G r.(?) p.(Tyr43Asp)
+/. 2 c.128A>G r.(?) p.(Tyr43Cys)
?/. 2 c.130T>G r.(?) p.(Cys44Gly)
+/. 2 c.131G>T r.(?) p.(Cys44Phe)
?/. 2 c.131G>T r.(?) p.(Cys44Phe)
+/. 2 c.132C>A r.(?) p.(Cys44*)
?/. 2 c.135C>A r.(?) p.(Asn45Lys)
+/. 2 c.140G>T r.(?) p.(Gly47Val)
?/. 2 c.145T>C r.(?) p.(Cys49Arg)
+/. 2 c.146G>A r.(?) p.(Cys49Tyr)
+/. 2 c.148del r.(?) p.(Glu50Serfs*10)
?/. 2 c.157G>A r.(?) p.(Gly53Ser)
?/. 2 c.157G>A r.(?) p.(Gly53Ser)
+/. 2 c.157G>C r.(?) p.(Gly53Arg)
+/. 2 c.157G>C r.(?) p.(Gly53Arg)
+/. 2 c.157G>C r.(?) p.(Gly53Arg)
?/. 2 c.158G>A r.(?) p.(Gly53Asp)
?/. 2 c.158G>A r.(?) p.(Gly53Asp)
+/. - c.164C>T r.(?) p.(Ser55Leu)
+/. 2 c.164C>T r.(?) p.(Ser55Leu)
?/. 2 c.167G>A r.(?) p.(Arg56Gln)
+/. 2 c.167G>A r.(?) p.(Arg56Gln)
+/. 2 c.167G>A r.(?) p.(Arg56Gln)
?/. 2 c.172G>A r.(?) p.(Glu58Lys)
?/. 2 c.172G>A r.(?) p.(Glu58Lys)
+/. 2 c.172G>A r.(?) p.(Glu58Lys)
+/. 2 c.173A>C r.(?) p.(Glu58Ala)
+/. 2 c.173A>G r.(?) p.(Glu58Gly)
+/. 2 c.174G>C r.(?) p.(Glu58Asp)
?/. 2 c.191G>A r.(?) p.(Cys64Tyr)
+?/. - c.191G>A r.(?) p.(Cys64Tyr)
+/. 2 c.191G>A r.(?) p.(Cys64Tyr)
+/. 2 c.193A>C r.(?) p.(Thr65Pro)
+/. 2 c.193A>C r.(?) p.(Thr65Pro)
+/. 2 c.196T>G r.(?) p.(Cys66Gly)
+/. 2 c.196T>G r.(?) p.(Cys66Gly)
+?/. - c.197G>A r.(?) p.(Cys66Tyr)
+/. 2 c.202T>C r.(?) p.(Phe68Leu)
?/. 2 c.202T>G r.(?) p.(Phe68Val)
+/. 2 c.209A>G r.(?) p.(His70Arg)
+/. 2 c.209A>G r.(?) p.(His70Arg)
+/. 2 c.209A>G r.(?) p.(His70Arg)
?/. 2 c.211G>A r.(?) p.(Gly71Arg)
+/. 2 c.211G>C r.(?) p.(Gly71Arg)
?/. 2 c.215C>A r.(?) p.(Pro72Gln)
+/. 2 c.215C>A r.(?) p.(Pro72Gln)
+?/. - c.215C>G r.(?) p.(Pro72Arg)
?/. 2 c.215C>T r.(?) p.(Pro72Leu)
+/. 2 c.221C>T r.(?) p.(Thr74Met)
+/. 2 c.221_251del r.(?) p.(Thr74Argfs*32)
+/. 2 c.221_251del r.(?) p.(Thr74Argfs*32)
+/. 2 c.223C>T r.(?) p.(Gln75*)
?/. - c.229C>T r.(?) p.(Arg77Cys)
+/. 2 c.232G>C r.(?) p.(Ala78Pro)
+/. 2 c.232G>C r.(?) p.(Ala78Pro)
+/. 2 c.232G>C r.(?) p.(Ala78Pro)
+/. 2 c.241C>T r.(?) p.(Gln81*)
+/. 2 c.244_252del r.(?) p.(Ile82_Gln84del)
+/. 2 c.244_252dup r.(?) p.(Ile82_Gln84dup)
+?/. - c.251A>G r.(?) p.(Gln84Arg)
+/. 2 c.254C>T r.(?) p.(Ala85Val)
+/. 2 c.257T>G r.(?) p.(Leu86Arg)
+/. 2 c.257T>G r.(?) p.(Leu86Arg)
?/. 2 c.260T>C r.(?) p.(Leu87Pro)
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