Canonical Allele Identifier: CA46686947

Gene: MSH6

Linked Data

• dbSNP Id: rs1053232406
• gnomAD v2: 2-48010123-C-T
• gnomAD v3: 2-47782984-C-T
• gnomAD v4: 2-47782984-C-T
• MyVariant Identifiers: chr2:g.48010123C>T (hg19) ; chr2:g.48010123_48010150delinsTGTGCCAGCCCCGCCCCTACCCACCAGT (hg19) ; chr2:g.47782984C>T (hg38) ; chr2:g.47782984_47783011delinsTGTGCCAGCCCCGCCCCTACCCACCAGT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47782984C>T , CM000664.2:g.47782984C>T	GRCh38
NC_000002.11:g.48010123C>T , CM000664.1:g.48010123C>T	GRCh37
NC_000002.10:g.47863627C>T	NCBI36
NG_007111.1:g.4838C>T , LRG_219:g.4838C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652107.1:c.-37-7943C>T	ENSP00000498629.1:n.-37-7943C>T
ENST00000606499.1:c.-37-7943C>T	ENSP00000475605.1:n.-37-7943C>T