Canonical Allele Identifier: CA46665929

Gene: MSH2

Linked Data

• dbSNP Id: rs536972300
• gnomAD v4: 2-47402989-C-A
• MyVariant Identifiers: chr2:g.47630128C>A (hg19) ; chr2:g.47402989C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47402989C>A , CM000664.2:g.47402989C>A	GRCh38
NC_000002.11:g.47630128C>A , CM000664.1:g.47630128C>A	GRCh37
NC_000002.10:g.47483632C>A	NCBI36
NG_007110.2:g.4866C>A , LRG_218:g.4866C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233146.6:c.-203C>A	ENSP00000233146.2:n.-203C>A