Canonical Allele Identifier: CA769468282

Gene: MSH6

Linked Data

• dbSNP Id: rs998569287
• gnomAD v3: 2-47783144-C-A
• gnomAD v4: 2-47783144-C-A
• MyVariant Identifiers: chr2:g.48010283C>A (hg19) ; chr2:g.47783144C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783144C>A , CM000664.2:g.47783144C>A	GRCh38
NC_000002.11:g.48010283C>A , CM000664.1:g.48010283C>A	GRCh37
NC_000002.10:g.47863787C>A	NCBI36
NG_007111.1:g.4998C>A , LRG_219:g.4998C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652107.1:c.-37-7783C>A	ENSP00000498629.1:n.-37-7783C>A
ENST00000234420.9:c.-90C>A	ENSP00000234420.4:n.-90C>A
ENST00000445503.5:c.-90C>A	ENSP00000405294.1:n.-90C>A
ENST00000456246.1:c.-90C>A	ENSP00000410570.1:n.-90C>A
ENST00000540021.5:c.-90C>A	ENSP00000446475.1:n.-90C>A
ENST00000606499.1:c.-37-7783C>A	ENSP00000475605.1:n.-37-7783C>A
ENST00000614496.4:c.-826C>A	ENSP00000477844.1:n.-826C>A
ENST00000622629.4:c.-3186C>A	ENSP00000482078.1:n.-3186C>A
NM_000179.2:c.-90C>A , LRG_219t1:c.-90C>A	NP_000170.1:n.-90C>A
NM_001281492.1:c.-90C>A	NP_001268421.1:n.-90C>A
NM_001281493.1:c.-826C>A	NP_001268422.1:n.-826C>A