Canonical Allele Identifier: CA067823

Gene: MSH6

Linked Data

• ClinVar Variation Id: 455145
• ClinVar RCV Id: RCV000526938 ; RCV002404365 ; RCV003222015 ; RCV004003664
• dbSNP Id: rs762061869
• ExAC: 2:48010525 C / G
• gnomAD v2: 2-48010525-C-G
• gnomAD v4: 2-47783386-C-G
• MyVariant Identifiers: chr2:g.48010525C>G (hg19) ; chr2:g.47783386C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783386C>G , CM000664.2:g.47783386C>G	GRCh38
NC_000002.11:g.48010525C>G , CM000664.1:g.48010525C>G	GRCh37
NC_000002.10:g.47864029C>G	NCBI36
NG_007111.1:g.5240C>G , LRG_219:g.5240C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.153C>G	ENSP00000514752.2:p.Ser51Arg
ENST00000699999.1:n.237C>G
ENST00000700000.1:c.153C>G	ENSP00000514749.1:p.Ser51Arg
ENST00000700001.1:n.225C>G
ENST00000700002.1:c.153C>G	ENSP00000514750.1:p.Ser51Arg
ENST00000700003.1:c.153C>G	ENSP00000514751.1:p.Ser51Arg
ENST00000234420.11:c.153C>G MANE Select	ENSP00000234420.5:p.Ser51Arg
ENST00000540021.6:c.153C>G	ENSP00000446475.1:p.Ser51Arg
ENST00000652107.1:c.-37-7541C>G	ENSP00000498629.1:n.-37-7541C>G
ENST00000673637.1:c.-38+155C>G	ENSP00000501310.1:n.-38+155C>G
ENST00000673922.1:n.242C>G
ENST00000234420.9:c.153C>G	ENSP00000234420.4:p.Ser51Arg
ENST00000445503.5:c.153C>G	ENSP00000405294.1:p.Ser51Arg
ENST00000456246.1:c.153C>G	ENSP00000410570.1:p.Ser51Arg
ENST00000493177.1:n.217C>G
ENST00000540021.5:c.153C>G	ENSP00000446475.1:p.Ser51Arg
ENST00000606499.1:c.-37-7541C>G	ENSP00000475605.1:n.-37-7541C>G
ENST00000614496.4:c.-584C>G	ENSP00000477844.1:n.-584C>G
ENST00000616033.4:c.151C>G	ENSP00000480261.1:p.Arg51Gly
ENST00000622629.4:c.-2944C>G	ENSP00000482078.1:n.-2944C>G
NM_000179.2:c.153C>G , LRG_219t1:c.153C>G	NP_000170.1:p.Ser51Arg
NM_001281492.1:c.153C>G	NP_001268421.1:p.Ser51Arg
NM_001281493.1:c.-584C>G	NP_001268422.1:n.-584C>G
XM_011532800.1:c.-38+155C>G	XP_011531102.1:n.-38+155C>G
XM_024452819.1:c.153C>G	XP_024308587.1:p.Ser51Arg
XM_024452822.1:c.-584C>G	XP_024308590.1:n.-584C>G
NM_000179.3:c.153C>G MANE Select	NP_000170.1:p.Ser51Arg
NM_001281492.2:c.153C>G	NP_001268421.1:p.Ser51Arg
NM_001281493.2:c.-584C>G	NP_001268422.1:n.-584C>G