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Variants
chr2:47635560 G>C
Annotations
Gene
MSH2
Transcript
NM_000251.2
cDNA
c.232G>C
Protein
p.V78L
Function
missense
Localization
exon
hg19
chr2:47635560 G>C
dbSNP
Synonyms
Transcript
cDNA
Protein
NM_001258281.1
c.34G>C
p.V12L
XR_001738747.1
n.304G>C
XR_939685.1
n.304G>C
Frequency in gnomAD
Genome
Exome
MAX
–
–
AFR
–
–
AMR
–
–
ASJ
–
–
EAS
–
–
FIN
–
–
NFE
–
–
SAS
–
–