Transcript #00000244

Transcript name transcript variant 1
Gene name CC2D2A (coiled-coil and C2 domain containing 2A)
Chromosome 4
Transcript - NCBI ID NM_001080522.2
Transcript - Ensembl ID -
Protein - NCBI ID NP_001073991.2
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

105 entries on 2 pages. Showing entries 1 - 100.
Legend   « First ‹ Prev     1 2     Next › Last »

Affects function     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     
./. - c.1A>G - - -
./. - c.123+446G>A - - -
./. - c.124-6C>T - - -
./. - c.156C>T - - -
./. - c.156C>T - - -
./. - c.217C>T - - -
./. - c.247+379T>C - - -
./. - c.247+410G>A - - -
./. - c.247+452C>T - - -
./. - c.247+453G>A - - -
./. - c.247+553G>A - - -
./. - c.247+751C>T - - -
./. - c.248-41del - - -
./. - c.336+1G>T - - -
./. - c.351T>G - - -
./. - c.355T>C - - -
./. - c.355T>C - - -
+/+ 8 c.517C>T - r.(517c>u) p.(Arg173*)
./. - c.541-25G>T - - -
./. - c.541-20T>G - - -
./. - c.541-20T>G - - -
./. - c.541-5G>A - - -
./. - c.590T>C - - -
+?/. - c.650del ACMG 4 r.(?) p.(Gly217Glufs*41)
./. - c.676_678del - - -
./. - c.676_678del - - -
./. - c.685_687del - - -
?/. 9 c.685_687del - r.(?) p.(Glu229del)
?/. 9 c.685_687del - r.(?) p.(Glu229del)
?/. 9 c.685_687del - r.(?) p.(Glu229del)
+?/+? 11 c.685_687delGAA - r.(685_687delgaa) p.(Glu229del)
./. - c.762A>G - - -
./. - c.777C>T - - -
./. - c.786C>A - - -
+/+ 12 c.834delG - r.(834delg) p.(Leu279Cysfs*40)
./. - c.880+1_880+2insA - - -
./. - c.922T>C - - -
./. - c.922T>C - - -
./. - c.945C>A - - -
./. - c.1127A>C - - -
./. - c.1150-13C>G - - -
./. - c.1162G>A - - -
./. - c.1267C>T - - -
+/+ 15 c.1339delG - r.(1339delg) p.(Ala447Argfs*11)
./. - c.1519A>G - - -
./. - c.1519A>G - - -
+?/+? 17 c.1537T>A - r.(1537u>a) p.(Trp513Arg)
./. - c.1722C>T - - -
+/+ 18 c.1762C>T - r.1761_1764del p.Gln588Glyfs*29
./. - c.1765-8C>G - - -
+?/. 17 c.1810G>A - r.(?) p.(Gly604Ser)
./. - c.1889T>G - - -
./. - c.1978G>A - - -
./. - c.1984C>T - - -
./. - c.2003+19C>T - - -
./. - c.2003+19C>T - - -
./. - c.2039G>A - - -
./. - c.2162C>T - - -
./. - c.2205T>G - - -
./. - c.2259C>T - - -
./. - c.2344C>T - - -
./. - c.2483G>A - - -
+?/+? 22i c.2486+1G>C - r.spl? p.?
+/+ 24 c.2773C>T - r.(2773c>u) p.(Arg925*)
+/. 22 c.2803C>T - r.(?) p.(Arg935*)
./. - c.2813T>C - - -
./. - c.2848C>T - - -
+/. 23 c.2875del - r.(?) p.(Glu959Asnfs*3)
./. - c.2885A>G - - -
./. - c.2922+8_2922+9insA - - -
+/+ 27 c.3084delG - r.(3084delg) p.(Lys1029Argfs*3)
+?/+? 27 c.3145C>G - r.(3145c>g) p.(Arg1049Gly)
./. - c.3157A>G - - -
./. - c.3280C>G - - -
+?/. 26i c.3289-1delG - r.spl p.?
+/+ 29 c.3289delG - r.[3289del, spl?] p.[Val1097Phefs*2, ?]
./. - c.3325C>T - - -
+?/+? 29 c.3341C>T - r.(3341c>u) p.(Thr1114Met)
+?/+? 29i c.3399-3C>A - r.spl? p.?
+/+ 27i_31i c.(3398+1_3399-1)_(3975+1_3976-1)del - r.(del) p.?
./. - c.3503G>A - - -
+/+ 31 c.3522_3523insTG - r.(3522_3523insug) p.(His1175Cysfs*13)
+?/+? 31 c.3544T>C - r.(3544u>c) p.(Trp1182Arg)
+/+ 31 c.3584delT - r.(3584delu) p.(Phe1195Serfs*11)
./. - c.3597T>C - - -
./. - c.3771+1G>C - - -
+/. 31 c.3774dup - r.(?) p.(Glu1259*)
+/+ 33 c.3774dupT - r.(3774dupu) p.(Glu1259*)
./. - c.3800T>G - - -
+?/+? 33 c.3893T>A - r.(3893u>a) p.(Val1298Asp)
+/+ 33_33i c.3975_3975+3del - r.spl p.?
./. - c.4014G>A - - -
+/+ 35 c.4179+1delG - r.spl? p.[(Gly1394Valfs*7, ?)]
+?/+? 35i c.4179+1delG - r.spl? p.?
./. - c.4348C>T - - -
./. - c.4489C>T - - -
+?/+? 38i c.4496+2T>A - r.spl p.?
./. - c.4510C>G - - -
+?/. 37 c.4577C>A - r.(?) p.(Thr1526Asn)
./. - c.4675-90_4675-89insTT - - -
Legend   « First ‹ Prev     1 2     Next › Last »