Canonical Allele Identifier: CA2580066621
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1785041
ClinVar RCV Id: RCV002421790
gnomAD v4: 2-47402988-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47402988G>A , CM000664.2:g.47402988G>A GRCh38
NC_000002.11:g.47630127G>A , CM000664.1:g.47630127G>A GRCh37
NC_000002.10:g.47483631G>A NCBI36
NG_007110.2:g.4865G>A , LRG_218:g.4865G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233146.6:c.-204G>A ENSP00000233146.2:n.-204G>A
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