All transcript variants in gene PMS2

Information The variants shown are described using the NM_000535.5 transcript reference sequence.

3 entries on 1 page. Showing entries 1 - 3.
Legend  

Effect     

Exon     

AscendingDNA change (cDNA)     

RNA change     

Protein     

DNA change (genomic) (hg19)     

Reference     

DB-ID     

dbSNP ID     

Variant remarks     

Genetic origin     

Segregation     

Also Known As     

Geographic Origin (for founder variants)     

Is Greek Founder     

Owner     
?/? - c.1855G>T r.(?) p.(Asp619Tyr) g.6026541C>A - PMS2_000028 rs1179605136 - Germline - - - - Despoina Kalfakakou
?/? - c.1855G>T r.(?) p.(Asp619Tyr) g.6026541C>A - PMS2_000028 rs1179605136 - Germline - - - - Despoina Kalfakakou
?/? - c.1855G>T r.(?) p.(Asp619Tyr) g.6026541C>A - PMS2_000028 rs1179605136 - Germline - - - - Despoina Kalfakakou
Legend