Canonical Allele Identifier: CA10578023

Gene: MSH6

Linked Data

• ClinVar Variation Id: 231201
• ClinVar RCV Id: RCV000220037 ; RCV000464611 ; RCV003477728 ; RCV003997888
• dbSNP Id: rs876659020
• gnomAD v4: 2-47783368-C-A
• MyVariant Identifiers: chr2:g.48010507C>A (hg19) ; chr2:g.47783368C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783368C>A , CM000664.2:g.47783368C>A	GRCh38
NC_000002.11:g.48010507C>A , CM000664.1:g.48010507C>A	GRCh37
NC_000002.10:g.47864011C>A	NCBI36
NG_007111.1:g.5222C>A , LRG_219:g.5222C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.135C>A	ENSP00000514752.2:p.Gly45=
ENST00000699999.1:n.219C>A
ENST00000700000.1:c.135C>A	ENSP00000514749.1:p.Gly45=
ENST00000700001.1:n.207C>A
ENST00000700002.1:c.135C>A	ENSP00000514750.1:p.Gly45=
ENST00000700003.1:c.135C>A	ENSP00000514751.1:p.Gly45=
ENST00000234420.11:c.135C>A MANE Select	ENSP00000234420.5:p.Gly45=
ENST00000540021.6:c.135C>A	ENSP00000446475.1:p.Gly45=
ENST00000652107.1:c.-37-7559C>A	ENSP00000498629.1:n.-37-7559C>A
ENST00000673637.1:c.-38+137C>A	ENSP00000501310.1:n.-38+137C>A
ENST00000673922.1:n.224C>A
ENST00000234420.9:c.135C>A	ENSP00000234420.4:p.Gly45=
ENST00000445503.5:c.135C>A	ENSP00000405294.1:p.Gly45=
ENST00000456246.1:c.135C>A	ENSP00000410570.1:p.Gly45=
ENST00000493177.1:n.199C>A
ENST00000540021.5:c.135C>A	ENSP00000446475.1:p.Gly45=
ENST00000606499.1:c.-37-7559C>A	ENSP00000475605.1:n.-37-7559C>A
ENST00000614496.4:c.-602C>A	ENSP00000477844.1:n.-602C>A
ENST00000616033.4:c.133C>A	ENSP00000480261.1:p.Arg45=
ENST00000622629.4:c.-2962C>A	ENSP00000482078.1:n.-2962C>A
NM_000179.2:c.135C>A , LRG_219t1:c.135C>A	NP_000170.1:p.Gly45=
NM_001281492.1:c.135C>A	NP_001268421.1:p.Gly45=
NM_001281493.1:c.-602C>A	NP_001268422.1:n.-602C>A
XM_011532800.1:c.-38+137C>A	XP_011531102.1:n.-38+137C>A
XM_024452819.1:c.135C>A	XP_024308587.1:p.Gly45=
XM_024452822.1:c.-602C>A	XP_024308590.1:n.-602C>A
NM_000179.3:c.135C>A MANE Select	NP_000170.1:p.Gly45=
NM_001281492.2:c.135C>A	NP_001268421.1:p.Gly45=
NM_001281493.2:c.-602C>A	NP_001268422.1:n.-602C>A