Canonical Allele Identifier: CA46687017

Gene: MSH6

Linked Data

• dbSNP Id: rs981416639
• gnomAD v4: 2-47783028-T-C
• MyVariant Identifiers: chr2:g.48010167T>C (hg19) ; chr2:g.47783028T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783028T>C , CM000664.2:g.47783028T>C	GRCh38
NC_000002.11:g.48010167T>C , CM000664.1:g.48010167T>C	GRCh37
NC_000002.10:g.47863671T>C	NCBI36
NG_007111.1:g.4882T>C , LRG_219:g.4882T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652107.1:c.-37-7899T>C	ENSP00000498629.1:n.-37-7899T>C
ENST00000606499.1:c.-37-7899T>C	ENSP00000475605.1:n.-37-7899T>C