chr2:47703678 G>C
Annotations
GeneMSH2
TranscriptNM_000251.2
cDNAc.2178G>C
Proteinp.M726I
Functionmissense
Localizationexon
hg19chr2:47703678 G>C
dbSNPrs587782396
Synonyms
TranscriptcDNAProtein
NM_001258281.1c.1980G>Cp.M660I
XR_001738747.1n.2250G>C
XR_939685.1n.2250G>C
Frequency in gnomAD
GenomeExome
MAX–0.00005371
AFR–0
AMR–0
ASJ–0
EAS–0
FIN–0
NFE–0.00005371
SAS–0
ClinVar
IDPhenotypeEffect