Canonical Allele Identifier: CA769468151

Gene: MSH6

Linked Data

• dbSNP Id: rs1430685453
• gnomAD v3: 2-47783020-C-G
• gnomAD v4: 2-47783020-C-G
• MyVariant Identifiers: chr2:g.48010159C>G (hg19) ; chr2:g.47783020C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783020C>G , CM000664.2:g.47783020C>G	GRCh38
NC_000002.11:g.48010159C>G , CM000664.1:g.48010159C>G	GRCh37
NC_000002.10:g.47863663C>G	NCBI36
NG_007111.1:g.4874C>G , LRG_219:g.4874C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652107.1:c.-37-7907C>G	ENSP00000498629.1:n.-37-7907C>G
ENST00000606499.1:c.-37-7907C>G	ENSP00000475605.1:n.-37-7907C>G