Transcript #00017102

Transcript name transcript variant 1
Gene name KANK2 (KN motif and ankyrin repeat domains 2)
Chromosome 19
Transcript - NCBI ID NM_015493.6
Transcript - Ensembl ID -
Protein - NCBI ID NP_056308.3
Protein - Ensembl ID -
Protein - Uniprot ID -
Remarks -


Variants

73 entries on 1 page. Showing entries 1 - 73.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
./. - c.-101C>T r.(=) p.(=)
./. - c.-58A>G r.(=) p.(=)
./. - c.10G>A r.(?) p.(Val4Ile)
./. - c.27T>C r.(=) p.(=)
./. - c.37+59G>A r.(=) p.(=)
./. - c.258G>A r.(=) p.(=)
./. - c.352G>A r.(?) p.(Gly118Ser)
./. - c.589C>T r.(?) p.(Arg197Trp)
./. - c.776C>A r.(?) p.(Pro259Gln)
./. - c.813T>C r.(=) p.(=)
./. - c.926G>A r.(?) p.(Arg309Gln)
./. - c.1038C>T r.(=) p.(=)
./. - c.1045G>A r.(?) p.(Ala349Thr)
./. - c.1202T>C r.(?) p.(Met401Thr)
./. - c.1211_1213del r.(?) p.(Lys404del)
./. - c.1249+23G>A r.(=) p.(=)
./. - c.1249+37G>T r.(=) p.(=)
./. - c.1249+38G>C r.(=) p.(=)
./. - c.1249+38G>T r.(=) p.(=)
./. - c.1249+39G>C r.(=) p.(=)
./. - c.1249+39G>T r.(=) p.(=)
./. - c.1249+40G>T r.(=) p.(=)
./. - c.1249+46del r.(=) p.(=)
./. - c.1249+46dup r.(=) p.(=)
./. - c.1249+46_1249+47del r.(=) p.(=)
./. - c.1249+48C>G r.(=) p.(=)
./. - c.1249+48_1249+49insG r.(=) p.(=)
./. - c.1249+85C>T r.(=) p.(=)
./. - c.1249+166G>A r.(=) p.(=)
./. - c.1269C>T r.(=) p.(=)
./. - c.1274C>T r.(?) p.(Ser425Leu)
./. - c.1339G>A r.(?) p.(Val447Met)
./. - c.1411G>A r.(?) p.(Gly471Ser)
./. - c.1417+38G>A r.(=) p.(=)
./. - c.1418-36G>A r.(=) p.(=)
./. - c.1418-29C>G r.(=) p.(=)
./. - c.1436C>T r.(?) p.(Pro479Leu)
./. - c.1492G>A r.(?) p.(Ala498Thr)
./. - c.1509C>T r.(=) p.(=)
./. - c.1544+39C>T r.(=) p.(=)
./. - c.1544+40G>A r.(=) p.(=)
./. - c.1544+44_1544+45insC r.(=) p.(=)
./. - c.1561G>A r.(?) p.(Glu521Lys)
./. - c.1626G>A r.(=) p.(=)
./. - c.1784+73C>G r.(=) p.(=)
./. - c.1785-168C>T r.(=) p.(=)
./. - c.1785-89T>C r.(=) p.(=)
./. - c.1785-79C>T r.(=) p.(=)
./. - c.1785-45C>T r.(=) p.(=)
./. - c.1785-40C>T r.(=) p.(=)
./. - c.1785-39G>A r.(=) p.(=)
./. - c.1872+53C>A r.(=) p.(=)
./. - c.1873-22C>T r.(=) p.(=)
./. - c.1965G>A r.(=) p.(=)
./. - c.2010C>T r.(=) p.(=)
./. - c.2022C>T r.(=) p.(=)
./. - c.2092+86C>T r.(=) p.(=)
./. - c.2092+116C>T r.(=) p.(=)
./. - c.2093-70G>A r.(=) p.(=)
./. - c.2094T>C r.(=) p.(=)
./. - c.2119C>T r.(?) p.(Arg707Cys)
./. - c.2211C>T r.(=) p.(=)
./. - c.2314G>C r.(?) p.(Asp772His)
./. - c.2436+11A>T r.(=) p.(=)
./. - c.2436+25C>T r.(=) p.(=)
./. - c.2526+15G>A r.(=) p.(=)
./. - c.2526+113C>T r.(=) p.(=)
./. - c.2526+167T>G r.(=) p.(=)
./. - c.2527-191G>A r.(=) p.(=)
./. - c.2527-143C>T r.(=) p.(=)
./. - c.2527-109_2527-108insGGGGCCA r.(=) p.(=)
./. - c.2536A>G r.(?) p.(Met846Val)
./. - c.*2C>T r.(=) p.(=)
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