Canonical Allele Identifier: CA021747

Gene: MSH2

Linked Data

• ClinVar Variation Id: 185086
• ClinVar RCV Id: RCV000164446
• dbSNP Id: rs786201917
• gnomAD v3: 2-47403019-A-T
• gnomAD v4: 2-47403019-A-T
• MyVariant Identifiers: chr2:g.47630158A>T (hg19) ; chr2:g.47403019A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47403019A>T , CM000664.2:g.47403019A>T	GRCh38
NC_000002.11:g.47630158A>T , CM000664.1:g.47630158A>T	GRCh37
NC_000002.10:g.47483662A>T	NCBI36
NG_007110.2:g.4896A>T , LRG_218:g.4896A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000233146.6:c.-173A>T	ENSP00000233146.2:n.-173A>T