Canonical Allele Identifier: CA10577895

Gene: MSH2

Linked Data

• ClinVar Variation Id: 232765
• ClinVar RCV Id: RCV000223281
• dbSNP Id: rs112804395
• gnomAD v3: 2-47403023-T-C
• gnomAD v4: 2-47403023-T-C
• MyVariant Identifiers: chr2:g.47630162T>C (hg19) ; chr2:g.47403023T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403023T>C , CM000664.2:g.47403023T>C	GRCh38
NC_000002.11:g.47630162T>C , CM000664.1:g.47630162T>C	GRCh37
NC_000002.10:g.47483666T>C	NCBI36
NG_007110.2:g.4900T>C , LRG_218:g.4900T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233146.6:c.-169T>C	ENSP00000233146.2:n.-169T>C