PSMG2 (NM_020232.5) sequence variants
(HCCA3, MDS003, MGC15092, CLAST3, HsT1707, PAC2)

Editor(s): Adriana ALMEIDA DE JESUS   

Home Page Variants list Sequences Download Useful links Statistics Build your graph Contact Submit a novel sequence variant Submit a novel complex allele

🔎

Total current number of sequence variants for PSMG2 : 3

*Name as first published or submitted to Infevers. May be different from the HGVS edited protein and sequence names.

** If you have new data: please send us a re-evaluation proposal here

HGVS sequence name
HGVS protein name
Usual name*
Classification**
Status**
Simple variant
Complex alleles
exon 6
c.638A>G
p.(Asn213Ser)
N213S
Uncertain significance (VUS)To be validated
 2020-05-19 
exon 6
c.675T>G
p.(Asn225Lys)
N225K
PathogenicTo be validated
 2019-04-08 
exon 6
c.666_667delGT
p.(Tyr223Serfs*2)
Y223Sfs*2
PathogenicTo be validated
 2019-04-08