Transcript #00020930 (NM_024809.4, TCTN2 gene)

Transcript name transcript variant 1
Gene name TCTN2 (tectonic family member 2)
Chromosome 12
Transcript - NCBI ID NM_024809.4
Transcript - Ensembl ID -
Protein - NCBI ID NP_079085.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

77 entries on 1 page. Showing entries 1 - 77.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     
+/. - c.76del r.(?) p.(Asp26Thrfs*27)
+/. - c.76del r.(?) p.(Asp26Thrfs*27)
+/. - c.76dup r.(?) p.(Asp26Glyfs*52)
+/. 1 c.77dup r.(?) p.(Asp26Glufs*52)
-/. - c.83-4C>T r.spl? p.?
?/. - c.92C>G r.(?) p.(Pro31Arg)
-?/. - c.183C>T r.(?) p.(Asp61=)
-?/. - c.202A>G r.(?) p.(Ile68Val)
-/. - c.225C>T r.(?) p.(Asn75=)
-?/. - c.282G>C r.(?) p.(Val94=)
?/. - c.304C>A r.(?) p.(Leu102Met)
-?/. - c.599G>A r.(?) p.(Arg200Gln)
-?/. - c.599G>A r.(?) p.(Arg200Gln)
-?/. - c.599G>A r.(?) p.(Arg200Gln)
-?/. - c.599G>A r.(?) p.(Arg200Gln)
-?/. - c.611C>T r.(?) p.(Thr204Ile)
+/. - c.613G>T r.(?) p.(Gly205Cys)
-?/. - c.615C>T r.(?) p.(Gly205=)
-?/. - c.615C>T r.(?) p.(Gly205=)
?/. - c.668C>T r.(?) p.(Thr223Met)
-?/. - c.669G>A r.(?) p.(Thr223=)
?/. - c.671C>T r.(?) p.(Thr224Met)
-?/. - c.720C>G r.(?) p.(Pro240=)
?/. - c.776A>G r.(?) p.(Gln259Arg)
+?/. - c.800_801del r.(?) p.(Val267Glyfs*3)
-?/. - c.810C>T r.(?) p.(Asp270=)
-/. - c.873A>G r.(?) p.(Ala291=)
-/. - c.891+7G>A r.(=) p.(=)
-/. - c.891+7G>A r.(=) p.(=)
-?/. - c.898C>T r.(?) p.(Leu300=)
-?/. - c.1015A>G r.(?) p.(Lys339Glu)
?/. - c.1043C>T r.(?) p.(Thr348Ile)
-/. - c.1099+19T>C r.(=) p.(=)
-/. - c.1099+19T>C r.(=) p.(=)
+/. - c.1117G>A r.(?) p.(Gly373Arg)
-/. - c.1128T>C r.(?) p.(Pro376=)
-/. - c.1128T>C r.(?) p.(Pro376=)
?/. - c.1150C>T r.(?) p.(His384Tyr)
+?/. - c.1234+3A>T r.spl p.?
+/. 10i c.1235-1G>A r.1235_1312del p.Ile413_Gly438del
+/. 10i c.1235-1G>A r.spl? p.?
+/. - c.1291G>T r.(?) p.(Glu431*)
+/. - c.1318C>T r.(?) p.(Gln440*)
-?/. - c.1363A>G r.(?) p.(Asn455Asp)
-/. - c.1393+7C>T r.(=) p.(=)
-/. - c.1393+7C>T r.(=) p.(=)
-?/. - c.1505+3G>C r.spl? p.?
+/. 13i c.1506-2A>G r.spl p.?
+/. 13i c.1506-2A>G r.spl? p.?
+/. 13i c.1506-2A>G r.spl? p.?
+/. 13i c.1506-2A>G r.spl? p.?
+/. - c.1506-2A>G r.spl p.?
+/. - c.1506-2A>G r.spl p.?
+/. 13i c.1506-2A>G r.spl? p.?
+/. 13i c.1506-2A>G r.spl? p.?
+/. 13i c.1506-2A>G r.spl? p.?
+/. 13i c.1506-2A>G r.spl? p.?
+/. 13i c.1506-2A>G r.spl? p.?
+/. 13i c.1506-2A>G r.spl? p.?
+/. 13i c.1506-2A>G r.spl? p.?
-?/. - c.1579G>A r.(?) p.(Ala527Thr)
-?/. - c.1602C>T r.(?) p.(Leu534=)
-/. - c.1612+12C>T r.(=) p.(=)
+/. - c.1626del r.(?) p.(Asp543Ilefs*11)
-?/. - c.1643C>T r.(?) p.(Pro548Leu)
+/. - c.1751T>A r.(?) p.(Ile584Lys)
+/. - c.1751T>A r.(?) p.(Ile584Lys)
+/. - c.1751T>A r.(?) p.(Ile584Lys)
-?/. - c.1848C>T r.(?) p.(Ser616=)
+/. 16 c.1873C>T r.(?) p.(Gln625*)
-?/. - c.2041T>C r.(?) p.(Leu681=)
-/. - c.*4839C>T r.(=) p.(=)
-/. - c.*4839C>T r.(=) p.(=)
-/. - c.*4839C>T r.(=) p.(=)
+?/. - c.*4854T>C r.(=) p.(=)
?/. - c.*4878C>T r.(=) p.(=)
-/. - c.*4983G>A r.(=) p.(=)
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