Canonical Allele Identifier: CA346740452

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs1669259831
• MyVariant Identifiers: chr2:g.48025950T>A (hg19) ; chr2:g.47798811T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798811T>A , CM000664.2:g.47798811T>A	GRCh38
NC_000002.11:g.48025950T>A , CM000664.1:g.48025950T>A	GRCh37
NC_000002.10:g.47879454T>A	NCBI36
NG_007111.1:g.20665T>A , LRG_219:g.20665T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.531T>A (MSH6)	ENSP00000406248.2:p.Asp177Glu
ENST00000420813.6:c.531T>A (MSH6)	ENSP00000390382.2:p.Asp177Glu
ENST00000455383.6:c.531T>A (MSH6)	ENSP00000397484.2:p.Asp177Glu
ENST00000700004.2:c.828T>A (MSH6)	ENSP00000514752.2:p.Asp276Glu
ENST00000699999.1:n.912T>A (MSH6)
ENST00000700000.1:c.828T>A (MSH6)	ENSP00000514749.1:p.Asp276Glu
ENST00000700002.1:c.834T>A (MSH6)	ENSP00000514750.1:p.Asp278Glu
ENST00000700003.1:c.627+2748T>A (MSH6)	ENSP00000514751.1:n.627+2748T>A
ENST00000234420.11:c.828T>A (MSH6) MANE Select	ENSP00000234420.5:p.Asp276Glu
ENST00000540021.6:c.438T>A (MSH6)	ENSP00000446475.1:p.Asp146Glu
ENST00000652107.1:c.531T>A (MSH6)	ENSP00000498629.1:p.Asp177Glu
ENST00000673637.1:c.531T>A (MSH6)	ENSP00000501310.1:p.Asp177Glu
ENST00000673922.1:n.550T>A (MSH6)
ENST00000234420.9:c.828T>A (MSH6)	ENSP00000234420.4:p.Asp276Glu
ENST00000405808.5:c.170-9371A>T (FBXO11)	ENSP00000385127.1:n.170-9371A>T
ENST00000434234.5:c.*124+9183A>T (FBXO11)	ENSP00000402692.1:n.*124+9183A>T
ENST00000445503.5:c.*175T>A (MSH6)	ENSP00000405294.1:n.*175T>A
ENST00000456246.1:c.*316T>A (MSH6)	ENSP00000410570.1:n.*316T>A
ENST00000538136.1:c.-79T>A (MSH6)	ENSP00000438580.1:n.-79T>A
ENST00000540021.5:c.438T>A (MSH6)	ENSP00000446475.1:p.Asp146Glu
ENST00000614496.4:c.-79T>A (MSH6)	ENSP00000477844.1:n.-79T>A
ENST00000616033.4:c.825T>A (MSH6)	ENSP00000480261.1:p.Asp275Glu
ENST00000622629.4:c.-2269T>A (MSH6)	ENSP00000482078.1:n.-2269T>A
NM_000179.2:c.828T>A , LRG_219t1:c.828T>A (MSH6)	NP_000170.1:p.Asp276Glu
NM_001281492.1:c.438T>A (MSH6)	NP_001268421.1:p.Asp146Glu
NM_001281493.1:c.-79T>A (MSH6)	NP_001268422.1:n.-79T>A
NM_001281494.1:c.-79T>A (MSH6)	NP_001268423.1:n.-79T>A
XM_005264271.1:c.531T>A (MSH6)	XP_005264328.1:p.Asp177Glu
XM_011532798.1:c.645T>A (MSH6)	XP_011531100.1:p.Asp215Glu
XM_011532799.1:c.531T>A (MSH6)	XP_011531101.1:p.Asp177Glu
XM_011532800.1:c.531T>A (MSH6)	XP_011531102.1:p.Asp177Glu
XM_024452819.1:c.828T>A (MSH6)	XP_024308587.1:p.Asp276Glu
XM_024452820.1:c.645T>A (MSH6)	XP_024308588.1:p.Asp215Glu
XM_024452821.1:c.531T>A (MSH6)	XP_024308589.1:p.Asp177Glu
XM_024452822.1:c.-79T>A (MSH6)	XP_024308590.1:n.-79T>A
NM_000179.3:c.828T>A (MSH6) MANE Select	NP_000170.1:p.Asp276Glu
NM_001281492.2:c.438T>A (MSH6)	NP_001268421.1:p.Asp146Glu
NM_001281493.2:c.-79T>A (MSH6)	NP_001268422.1:n.-79T>A
NM_001281494.2:c.-79T>A (MSH6)	NP_001268423.1:n.-79T>A