Canonical Allele Identifier: CA021823

Gene: MSH2

Linked Data

• ClinVar Variation Id: 186008
• ClinVar RCV Id: RCV000165528
• dbSNP Id: rs786202625
• gnomAD v4: 2-47402977-T-C
• MyVariant Identifiers: chr2:g.47630116T>C (hg19) ; chr2:g.47402977T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47402977T>C , CM000664.2:g.47402977T>C	GRCh38
NC_000002.11:g.47630116T>C , CM000664.1:g.47630116T>C	GRCh37
NC_000002.10:g.47483620T>C	NCBI36
NG_007110.2:g.4854T>C , LRG_218:g.4854T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233146.6:c.-215T>C	ENSP00000233146.2:n.-215T>C