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

34 entries on 1 page. Showing entries 1 - 34.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

Class.     

RNA change     

Protein     
+/+ 8 c.517C>T - r.(517c>u) p.(Arg173*)
+?/. - c.650del ACMG 4 r.(?) p.(Gly217Glufs*41)
?/. 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)
+/+ 12 c.834delG - r.(834delg) p.(Leu279Cysfs*40)
+/+ 15 c.1339delG - r.(1339delg) p.(Ala447Argfs*11)
+?/+? 17 c.1537T>A - r.(1537u>a) p.(Trp513Arg)
+/+ 18 c.1762C>T - r.1761_1764del p.Gln588Glyfs*29
+?/. 17 c.1810G>A - r.(?) p.(Gly604Ser)
+?/+? 22i c.2486+1G>C - r.spl? p.?
+/+ 24 c.2773C>T - r.(2773c>u) p.(Arg925*)
+/. 22 c.2803C>T - r.(?) p.(Arg935*)
+/. 23 c.2875del - r.(?) p.(Glu959Asnfs*3)
+/+ 27 c.3084delG - r.(3084delg) p.(Lys1029Argfs*3)
+?/+? 27 c.3145C>G - r.(3145c>g) p.(Arg1049Gly)
+?/. 26i c.3289-1delG - r.spl p.?
+/+ 29 c.3289delG - r.[3289del, spl?] p.[Val1097Phefs*2, ?]
+?/+? 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.?
+/+ 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)
+/. 31 c.3774dup - r.(?) p.(Glu1259*)
+/+ 33 c.3774dupT - r.(3774dupu) p.(Glu1259*)
+?/+? 33 c.3893T>A - r.(3893u>a) p.(Val1298Asp)
+/+ 33_33i c.3975_3975+3del - r.spl p.?
+/+ 35 c.4179+1delG - r.spl? p.[(Gly1394Valfs*7, ?)]
+?/+? 35i c.4179+1delG - r.spl? p.?
+?/+? 38i c.4496+2T>A - r.spl p.?
+?/. 37 c.4577C>A - r.(?) p.(Thr1526Asn)
./. 38 c.4763T>C - r.(?) p.(Val1588Ala)
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