Canonical Allele Identifier: CA769468204

Gene: MSH6

Linked Data

• dbSNP Id: rs1328284365
• gnomAD v4: 2-47783069-A-C
• MyVariant Identifiers: chr2:g.48010208A>C (hg19) ; chr2:g.47783069A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783069A>C , CM000664.2:g.47783069A>C	GRCh38
NC_000002.11:g.48010208A>C , CM000664.1:g.48010208A>C	GRCh37
NC_000002.10:g.47863712A>C	NCBI36
NG_007111.1:g.4923A>C , LRG_219:g.4923A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652107.1:c.-37-7858A>C	ENSP00000498629.1:n.-37-7858A>C
ENST00000606499.1:c.-37-7858A>C	ENSP00000475605.1:n.-37-7858A>C