Transcript #00002370

Transcript name transcript variant 1
Gene name ALG2 (asparagine-linked glycosylation 2, alpha-1,3-mannosyltransferase homolog (S. cerevisiae))
Chromosome 9
Transcript - NCBI ID NM_033087.3
Transcript - Ensembl ID -
Protein - NCBI ID NP_149078.1
Protein - Ensembl ID -
Protein - Uniprot ID -
Exon/intron information Exon/intron information table: HTML, Txt
Remarks -


Variants

12 entries on 1 page. Showing entries 1 - 12.
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Affects function     

Exon     

AscendingDNA change (cDNA)     

ClassClinical     

RNA change     

Protein     
?/. - c.-748T>G VUS r.(?) p.(=)
+/. - c.22del pathogenic r.(?) p.(Glu8Asnfs*40)
-?/. - c.30C>G likely benign r.(?) p.(Asp10Glu)
-?/. - c.137G>T likely benign r.(?) p.(Ser46Ile)
+/. - c.214_224delinsAGTCCCCG ACMG: 5 r.(?) p.(Gly72_Leu75delinsSerProArg)
+/. - c.226_236del pathogenic r.(?) p.(Pro76Glyfs*49)
?/. - c.260_262dup VUS r.(?) p.(Ala87dup)
-?/. - c.346C>G likely benign r.(?) p.(Gln116Glu)
-?/. - c.475A>G likely benign r.(?) p.(Ile159Val)
-?/. - c.484A>G likely benign r.(?) p.(Ile162Val)
-?/. - c.760T>C likely benign r.(?) p.(=)
-?/. - c.870G>C likely benign r.(?) p.(Gln290His)
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