Canonical Allele Identifier: CA46687139

Gene: MSH6

Linked Data

• dbSNP Id: rs923362478
• gnomAD v3: 2-47783114-C-T
• gnomAD v4: 2-47783114-C-T
• MyVariant Identifiers: chr2:g.48010253C>T (hg19) ; chr2:g.47783114C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783114C>T , CM000664.2:g.47783114C>T	GRCh38
NC_000002.11:g.48010253C>T , CM000664.1:g.48010253C>T	GRCh37
NC_000002.10:g.47863757C>T	NCBI36
NG_007111.1:g.4968C>T , LRG_219:g.4968C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000652107.1:c.-37-7813C>T	ENSP00000498629.1:n.-37-7813C>T
ENST00000234420.9:c.-120C>T	ENSP00000234420.4:n.-120C>T
ENST00000445503.5:c.-120C>T	ENSP00000405294.1:n.-120C>T
ENST00000540021.5:c.-120C>T	ENSP00000446475.1:n.-120C>T
ENST00000606499.1:c.-37-7813C>T	ENSP00000475605.1:n.-37-7813C>T
ENST00000614496.4:c.-856C>T	ENSP00000477844.1:n.-856C>T
ENST00000622629.4:c.-3216C>T	ENSP00000482078.1:n.-3216C>T
NM_000179.2:c.-120C>T , LRG_219t1:c.-120C>T	NP_000170.1:n.-120C>T
NM_001281492.1:c.-120C>T	NP_001268421.1:n.-120C>T
NM_001281493.1:c.-856C>T	NP_001268422.1:n.-856C>T