Canonical Allele Identifier: CA021759
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 185605
ClinVar RCV Id: RCV000165053
dbSNP Id: rs786202309
gnomAD v4: 2-47403016-C-G
MyVariant Identifiers: chr2:g.47630155C>G (hg19) chr2:g.47403016C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403016C>G , CM000664.2:g.47403016C>G GRCh38
NC_000002.11:g.47630155C>G , CM000664.1:g.47630155C>G GRCh37
NC_000002.10:g.47483659C>G NCBI36
NG_007110.2:g.4893C>G , LRG_218:g.4893C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000233146.6:c.-176C>G ENSP00000233146.2:n.-176C>G
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