Transcript #00000445

Transcript name cyclic nucleotide gated channel alpha 2
Gene name CNGA2 (cyclic nucleotide gated channel alpha 2)
Chromosome X
Transcript - NCBI ID NM_005140.1
Transcript - Ensembl ID -
Protein - NCBI ID NP_005131.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

31 entries on 1 page. Showing entries 1 - 31.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.44A>C VUS r.(?) p.(Asn15Thr)
-/. - c.44A>C benign r.(?) p.(Asn15Thr)
?/. - c.61C>A VUS r.(?) p.(Pro21Thr)
-?/. - c.338G>T likely benign r.(?) p.(Gly113Val)
?/. - c.338G>T - r.(?) p.(Gly113Val)
?/. - c.416G>T - r.(?) p.(Trp139Leu)
-?/. - c.483-4G>A likely benign r.spl? p.?
?/. - c.530T>G - - p.(Val177Gly)
-?/. - c.582G>A - r.(=) p.(=)
-?/. - c.589+3C>T likely benign r.spl? p.?
?/. - c.590-152_590-151insGC - - p.(=)
?/. - c.590-52T>C - - p.(=)
?/. - c.634C>G - r.(?) p.(Arg212Gly)
?/. - c.746G>A VUS r.(?) p.(Arg249His)
-?/. - c.766A>G likely benign r.(?) p.(Met256Val)
?/. - c.785G>A VUS r.(?) p.(Arg262Gln)
?/. - c.821G>A VUS r.(?) p.(Arg274His)
-?/. 7 c.821G>A - r.(?) p.(Arg274His)
?/. - c.831C>A VUS r.(?) p.(Asn277Lys)
-?/. - c.840C>T - r.(=) p.(=)
?/. - c.913G>A - r.(?) p.(Asp305Asn)
?/. - c.913G>A VUS r.(?) p.(Asp305Asn)
-?/. - c.1081G>A likely benign r.(?) p.(Val361Ile)
?/. - c.1081G>A - r.(?) p.(Val361Ile)
?/. - c.1236G>T VUS r.(?) p.(Trp412Cys)
?/. - c.1477A>G VUS r.(?) p.(Ile493Val)
-?/. - c.1527G>A - r.(=) p.(=)
-?/. - c.1768G>T likely benign r.(?) p.(Ala590Ser)
?/. - c.1849C>A VUS r.(?) p.(Arg617Ser)
?/. - c.1874C>G VUS r.(?) p.(Ala625Gly)
?/. - c.1987G>A - r.(?) p.(Glu663Lys)
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