chr2:47690245 T>G
Annotations
GeneMSH2
TranscriptNM_000251.2
cDNAc.1462T>G
Proteinp.L488V
Functionmissense
Localizationexon
hg19chr2:47690245 T>G
dbSNPrs587781314
Synonyms
TranscriptcDNAProtein
NM_001258281.1c.1264T>Gp.L422V
XR_001738747.1n.1534T>G
XR_939685.1n.1534T>G
Frequency in gnomAD
GenomeExome
MAX–0.00003584
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.00003584
SAS–0.00003249
ClinVar
IDPhenotypeEffect