Canonical Allele Identifier: CA769468164

Gene: MSH6

Linked Data

• dbSNP Id: rs1471119735
• gnomAD v3: 2-47783030-C-G
• gnomAD v4: 2-47783030-C-G
• MyVariant Identifiers: chr2:g.48010169C>G (hg19) ; chr2:g.47783030C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783030C>G , CM000664.2:g.47783030C>G	GRCh38
NC_000002.11:g.48010169C>G , CM000664.1:g.48010169C>G	GRCh37
NC_000002.10:g.47863673C>G	NCBI36
NG_007111.1:g.4884C>G , LRG_219:g.4884C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652107.1:c.-37-7897C>G	ENSP00000498629.1:n.-37-7897C>G
ENST00000606499.1:c.-37-7897C>G	ENSP00000475605.1:n.-37-7897C>G