Canonical Allele Identifier: CA346734867

Gene: MSH6

Linked Data

• ClinVar Variation Id: 483763
• ClinVar RCV Id: RCV000574512 ; RCV002528141
• dbSNP Id: rs777101467
• gnomAD v4: 2-47783353-C-T
• MyVariant Identifiers: chr2:g.48010492C>T (hg19) ; chr2:g.47783353C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783353C>T , CM000664.2:g.47783353C>T	GRCh38
NC_000002.11:g.48010492C>T , CM000664.1:g.48010492C>T	GRCh37
NC_000002.10:g.47863996C>T	NCBI36
NG_007111.1:g.5207C>T , LRG_219:g.5207C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.120C>T	ENSP00000514752.2:p.Ala40=
ENST00000699999.1:n.204C>T
ENST00000700000.1:c.120C>T	ENSP00000514749.1:p.Ala40=
ENST00000700001.1:n.192C>T
ENST00000700002.1:c.120C>T	ENSP00000514750.1:p.Ala40=
ENST00000700003.1:c.120C>T	ENSP00000514751.1:p.Ala40=
ENST00000234420.11:c.120C>T MANE Select	ENSP00000234420.5:p.Ala40=
ENST00000540021.6:c.120C>T	ENSP00000446475.1:p.Ala40=
ENST00000652107.1:c.-37-7574C>T	ENSP00000498629.1:n.-37-7574C>T
ENST00000673637.1:c.-38+122C>T	ENSP00000501310.1:n.-38+122C>T
ENST00000673922.1:n.209C>T
ENST00000234420.9:c.120C>T	ENSP00000234420.4:p.Ala40=
ENST00000445503.5:c.120C>T	ENSP00000405294.1:p.Ala40=
ENST00000456246.1:c.120C>T	ENSP00000410570.1:p.Ala40=
ENST00000493177.1:n.184C>T
ENST00000540021.5:c.120C>T	ENSP00000446475.1:p.Ala40=
ENST00000606499.1:c.-37-7574C>T	ENSP00000475605.1:n.-37-7574C>T
ENST00000614496.4:c.-617C>T	ENSP00000477844.1:n.-617C>T
ENST00000616033.4:c.118C>T	ENSP00000480261.1:p.Leu40Phe
ENST00000622629.4:c.-2977C>T	ENSP00000482078.1:n.-2977C>T
NM_000179.2:c.120C>T , LRG_219t1:c.120C>T	NP_000170.1:p.Ala40=
NM_001281492.1:c.120C>T	NP_001268421.1:p.Ala40=
NM_001281493.1:c.-617C>T	NP_001268422.1:n.-617C>T
XM_011532800.1:c.-38+122C>T	XP_011531102.1:n.-38+122C>T
XM_024452819.1:c.120C>T	XP_024308587.1:p.Ala40=
XM_024452822.1:c.-617C>T	XP_024308590.1:n.-617C>T
NM_000179.3:c.120C>T MANE Select	NP_000170.1:p.Ala40=
NM_001281492.2:c.120C>T	NP_001268421.1:p.Ala40=
NM_001281493.2:c.-617C>T	NP_001268422.1:n.-617C>T