Canonical Allele Identifier: CA2580066620

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1785352
• ClinVar RCV Id: RCV002422101
• gnomAD v4: 2-47402986-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47402986C>T , CM000664.2:g.47402986C>T	GRCh38
NC_000002.11:g.47630125C>T , CM000664.1:g.47630125C>T	GRCh37
NC_000002.10:g.47483629C>T	NCBI36
NG_007110.2:g.4863C>T , LRG_218:g.4863C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233146.6:c.-206C>T	ENSP00000233146.2:n.-206C>T