Canonical Allele Identifier: CA769468182

Gene: MSH6

Linked Data

• dbSNP Id: rs1382525645
• gnomAD v3: 2-47783038-G-A
• gnomAD v4: 2-47783038-G-A
• MyVariant Identifiers: chr2:g.48010177G>A (hg19) ; chr2:g.47783038G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783038G>A , CM000664.2:g.47783038G>A	GRCh38
NC_000002.11:g.48010177G>A , CM000664.1:g.48010177G>A	GRCh37
NC_000002.10:g.47863681G>A	NCBI36
NG_007111.1:g.4892G>A , LRG_219:g.4892G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652107.1:c.-37-7889G>A	ENSP00000498629.1:n.-37-7889G>A
ENST00000606499.1:c.-37-7889G>A	ENSP00000475605.1:n.-37-7889G>A