Canonical Allele Identifier: CA2580066663
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1770313
ClinVar RCV Id: RCV002387661
dbSNP Id: rs2103859798
gnomAD v4: 2-47403059-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403059A>G , CM000664.2:g.47403059A>G GRCh38
NC_000002.11:g.47630198A>G , CM000664.1:g.47630198A>G GRCh37
NC_000002.10:g.47483702A>G NCBI36
NG_007110.2:g.4936A>G , LRG_218:g.4936A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233146.6:c.-133A>G ENSP00000233146.2:n.-133A>G
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