Canonical Allele Identifier: CA330335

Gene: MSH6

Linked Data

• ClinVar Variation Id: 89158
• ClinVar RCV Id: RCV000074619 ; RCV001618241
• dbSNP Id: rs41540312
• gnomAD v2: 2-48010214-C-T
• gnomAD v3: 2-47783075-C-T
• gnomAD v4: 2-47783075-C-T
• MyVariant Identifiers: chr2:g.48010214C>T (hg19) ; chr2:g.47783075C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783075C>T , CM000664.2:g.47783075C>T	GRCh38
NC_000002.11:g.48010214C>T , CM000664.1:g.48010214C>T	GRCh37
NC_000002.10:g.47863718C>T	NCBI36
NG_007111.1:g.4929C>T , LRG_219:g.4929C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000652107.1:c.-37-7852C>T	ENSP00000498629.1:n.-37-7852C>T
ENST00000606499.1:c.-37-7852C>T	ENSP00000475605.1:n.-37-7852C>T