Canonical Allele Identifier: CA021812

Gene: MSH2

Linked Data

• ClinVar Variation Id: 185782
• ClinVar RCV Id: RCV000165270
• dbSNP Id: rs786202450
• gnomAD v2: 2-47630123-A-G
• gnomAD v3: 2-47402984-A-G
• gnomAD v4: 2-47402984-A-G
• MyVariant Identifiers: chr2:g.47630123A>G (hg19) ; chr2:g.47402984A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47402984A>G , CM000664.2:g.47402984A>G	GRCh38
NC_000002.11:g.47630123A>G , CM000664.1:g.47630123A>G	GRCh37
NC_000002.10:g.47483627A>G	NCBI36
NG_007110.2:g.4861A>G , LRG_218:g.4861A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233146.6:c.-208A>G	ENSP00000233146.2:n.-208A>G