chr2:47643484 A>G
Annotations
GeneMSH2
TranscriptNM_000251.2
cDNAc.992A>G
Proteinp.N331S
Functionmissense
Localizationexon
hg19chr2:47643484 A>G
dbSNPrs779673318
Synonyms
TranscriptcDNAProtein
NM_001258281.1c.794A>Gp.N265S
XR_001738747.1n.1064A>G
XR_939685.1n.1064A>G
Frequency in gnomAD
GenomeExome
MAX–0.00001791
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.00001791
SAS–0
ClinVar
IDPhenotypeEffect