Entering edit mode
3.7 years ago
geocarvalho
▴
370
Hello, I have a variant in the PMS2 gene that wasn't annotated by ANNOVAR using the main transcript (NM_000535). I'm using the database for hg38 genome.
chr7 6003982 6003982 G A
PMS2:NM_001322008.2:exon2:c.25C>T:p.R9X,PMS2:NM_001322007.2:exon3:c.25C>T:p.R9X
It is a stop codon but in the main transcript is another non-synonymous variant. Do you know if I can add the other transcript by a parameter from ANNOVAR?
Any help is appreciated. Best regards, George.
Item 10 from ANNOVAR FAQ talks about precedence and other possibilities:
I'll give a try to this
-separate
option.