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HomeVariants

chr2:47635560 G>C

Annotations

GeneMSH2
TranscriptNM_000251.2
cDNAc.232G>C
Proteinp.V78L
Functionmissense
Localizationexon
hg19chr2:47635560 G>C
dbSNP

Synonyms

TranscriptcDNAProtein
NM_001258281.1c.34G>Cp.V12L
XR_001738747.1n.304G>C
XR_939685.1n.304G>C

Frequency in gnomAD

GenomeExome
MAX
AFR
AMR
ASJ
EAS
FIN
NFE
SAS