Canonical Allele Identifier: CA2529447518
Gene: MSH2 HGNC NCBI

Linked Data

dbSNP Id: rs786202309
gnomAD v4: 2-47403016-C-A
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Genomic Alleles

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

Transcript Alleles

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