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HomeVariants

chr2:47635588 C>G

Annotations

GeneMSH2
TranscriptNM_000251.2
cDNAc.260C>G
Proteinp.S87C
Functionmissense
Localizationexon
hg19chr2:47635588 C>G

Synonyms

TranscriptcDNAProtein
NM_001258281.1c.62C>Gp.S21C
XR_001738747.1n.332C>G
XR_939685.1n.332C>G

Frequency in gnomAD

GenomeExome
MAX0.000066930.000008967
AFR00
AMR00
ASJ00
EAS00
FIN00
NFE0.000066930.000008967
SAS0

ClinVar

IDPhenotypeEffect
RCV000212581.2not providedVUS
RCV000662735.1Lynch syndrome IVUS
RCV000233259.4Hereditary nonpolyposis colon cancerVUS
RCV000129363.7Hereditary cancer-predisposing syndromeVUS