Canonical Allele Identifier: CA2580066613
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1786707
ClinVar RCV Id: RCV002432427
gnomAD v4: 2-47402978-A-G
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47402978A>G , CM000664.2:g.47402978A>G GRCh38
NC_000002.11:g.47630117A>G , CM000664.1:g.47630117A>G GRCh37
NC_000002.10:g.47483621A>G NCBI36
NG_007110.2:g.4855A>G , LRG_218:g.4855A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233146.6:c.-214A>G ENSP00000233146.2:n.-214A>G
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