Canonical Allele Identifier: CA10582035

Gene: MSH6

Linked Data

• ClinVar Variation Id: 237159
• ClinVar RCV Id: RCV000229669 ; RCV000491394 ; RCV001354734 ; RCV001572461 ; RCV003998719
• dbSNP Id: rs878853717
• gnomAD v4: 2-47783484-C-T
• MyVariant Identifiers: chr2:g.48010623C>T (hg19) ; chr2:g.47783484C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47783484C>T , CM000664.2:g.47783484C>T	GRCh38
NC_000002.11:g.48010623C>T , CM000664.1:g.48010623C>T	GRCh37
NC_000002.10:g.47864127C>T	NCBI36
NG_007111.1:g.5338C>T , LRG_219:g.5338C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000700004.2:c.251C>T	ENSP00000514752.2:p.Ala84Val
ENST00000699999.1:n.335C>T
ENST00000700000.1:c.251C>T	ENSP00000514749.1:p.Ala84Val
ENST00000700001.1:n.323C>T
ENST00000700002.1:c.251C>T	ENSP00000514750.1:p.Ala84Val
ENST00000700003.1:c.251C>T	ENSP00000514751.1:p.Ala84Val
ENST00000234420.11:c.251C>T MANE Select	ENSP00000234420.5:p.Ala84Val
ENST00000540021.6:c.237+14C>T	ENSP00000446475.1:n.237+14C>T
ENST00000652107.1:c.-37-7443C>T	ENSP00000498629.1:n.-37-7443C>T
ENST00000673637.1:c.-38+253C>T	ENSP00000501310.1:n.-38+253C>T
ENST00000673922.1:n.340C>T
ENST00000234420.9:c.251C>T	ENSP00000234420.4:p.Ala84Val
ENST00000445503.5:c.251C>T	ENSP00000405294.1:p.Ala84Val
ENST00000456246.1:c.251C>T	ENSP00000410570.1:p.Ala84Val
ENST00000493177.1:n.315C>T
ENST00000540021.5:c.237+14C>T	ENSP00000446475.1:n.237+14C>T
ENST00000606499.1:c.-37-7443C>T	ENSP00000475605.1:n.-37-7443C>T
ENST00000614496.4:c.-486C>T	ENSP00000477844.1:n.-486C>T
ENST00000616033.4:c.248C>T	ENSP00000480261.1:p.Ala83Val
ENST00000622629.4:c.-2846C>T	ENSP00000482078.1:n.-2846C>T
NM_000179.2:c.251C>T , LRG_219t1:c.251C>T	NP_000170.1:p.Ala84Val
NM_001281492.1:c.237+14C>T	NP_001268421.1:n.237+14C>T
NM_001281493.1:c.-486C>T	NP_001268422.1:n.-486C>T
XM_011532800.1:c.-38+253C>T	XP_011531102.1:n.-38+253C>T
XM_024452819.1:c.251C>T	XP_024308587.1:p.Ala84Val
XM_024452822.1:c.-486C>T	XP_024308590.1:n.-486C>T
NM_000179.3:c.251C>T MANE Select	NP_000170.1:p.Ala84Val
NM_001281492.2:c.237+14C>T	NP_001268421.1:n.237+14C>T
NM_001281493.2:c.-486C>T	NP_001268422.1:n.-486C>T