Canonical Allele Identifier: CA2580066660
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1770807
ClinVar RCV Id: RCV002383464
dbSNP Id: rs587782145
gnomAD v4: 2-47403057-G-A
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403057G>A , CM000664.2:g.47403057G>A GRCh38
NC_000002.11:g.47630196G>A , CM000664.1:g.47630196G>A GRCh37
NC_000002.10:g.47483700G>A NCBI36
NG_007110.2:g.4934G>A , LRG_218:g.4934G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000233146.6:c.-135G>A ENSP00000233146.2:n.-135G>A
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