Canonical Allele Identifier: CA46665973

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1778963
• ClinVar RCV Id: RCV002399176
• dbSNP Id: rs997193848
• gnomAD v3: 2-47403020-T-C
• gnomAD v4: 2-47403020-T-C
• MyVariant Identifiers: chr2:g.47630159T>C (hg19) ; chr2:g.47403020T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403020T>C , CM000664.2:g.47403020T>C	GRCh38
NC_000002.11:g.47630159T>C , CM000664.1:g.47630159T>C	GRCh37
NC_000002.10:g.47483663T>C	NCBI36
NG_007110.2:g.4897T>C , LRG_218:g.4897T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233146.6:c.-172T>C	ENSP00000233146.2:n.-172T>C