Canonical Allele Identifier: CA46687142

Gene: MSH6

Linked Data

• dbSNP Id: rs909184554
• gnomAD v4: 2-47783121-C-T
• MyVariant Identifiers: chr2:g.48010260C>T (hg19) ; chr2:g.47783121C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783121C>T , CM000664.2:g.47783121C>T	GRCh38
NC_000002.11:g.48010260C>T , CM000664.1:g.48010260C>T	GRCh37
NC_000002.10:g.47863764C>T	NCBI36
NG_007111.1:g.4975C>T , LRG_219:g.4975C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652107.1:c.-37-7806C>T	ENSP00000498629.1:n.-37-7806C>T
ENST00000234420.9:c.-113C>T	ENSP00000234420.4:n.-113C>T
ENST00000445503.5:c.-113C>T	ENSP00000405294.1:n.-113C>T
ENST00000540021.5:c.-113C>T	ENSP00000446475.1:n.-113C>T
ENST00000606499.1:c.-37-7806C>T	ENSP00000475605.1:n.-37-7806C>T
ENST00000614496.4:c.-849C>T	ENSP00000477844.1:n.-849C>T
ENST00000622629.4:c.-3209C>T	ENSP00000482078.1:n.-3209C>T
NM_000179.2:c.-113C>T , LRG_219t1:c.-113C>T	NP_000170.1:n.-113C>T
NM_001281492.1:c.-113C>T	NP_001268421.1:n.-113C>T
NM_001281493.1:c.-849C>T	NP_001268422.1:n.-849C>T