Canonical Allele Identifier: CA073319

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 629847
• ClinVar RCV Id: RCV001856091 ; RCV002285413
• dbSNP Id: rs757817018
• ExAC: 2:48025783 G / A
• gnomAD v2: 2-48025783-G-A
• gnomAD v4: 2-47798644-G-A
• MyVariant Identifiers: chr2:g.48025783G>A (hg19) ; chr2:g.47798644G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798644G>A , CM000664.2:g.47798644G>A	GRCh38
NC_000002.11:g.48025783G>A , CM000664.1:g.48025783G>A	GRCh37
NC_000002.10:g.47879287G>A	NCBI36
NG_007111.1:g.20498G>A , LRG_219:g.20498G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.364G>A (MSH6)	ENSP00000406248.2:p.Glu122Lys
ENST00000420813.6:c.364G>A (MSH6)	ENSP00000390382.2:p.Glu122Lys
ENST00000455383.6:c.364G>A (MSH6)	ENSP00000397484.2:p.Glu122Lys
ENST00000700004.2:c.661G>A (MSH6)	ENSP00000514752.2:p.Glu221Lys
ENST00000699999.1:n.745G>A (MSH6)
ENST00000700000.1:c.661G>A (MSH6)	ENSP00000514749.1:p.Glu221Lys
ENST00000700002.1:c.667G>A (MSH6)	ENSP00000514750.1:p.Glu223Lys
ENST00000700003.1:c.627+2581G>A (MSH6)	ENSP00000514751.1:n.627+2581G>A
ENST00000234420.11:c.661G>A (MSH6) MANE Select	ENSP00000234420.5:p.Glu221Lys
ENST00000540021.6:c.271G>A (MSH6)	ENSP00000446475.1:p.Glu91Lys
ENST00000652107.1:c.364G>A (MSH6)	ENSP00000498629.1:p.Glu122Lys
ENST00000673637.1:c.364G>A (MSH6)	ENSP00000501310.1:p.Glu122Lys
ENST00000673922.1:n.383G>A (MSH6)
ENST00000234420.9:c.661G>A (MSH6)	ENSP00000234420.4:p.Glu221Lys
ENST00000405808.5:c.170-9204C>T (FBXO11)	ENSP00000385127.1:n.170-9204C>T
ENST00000411819.1:c.364G>A (MSH6)	ENSP00000406248.1:p.Glu122Lys
ENST00000434234.5:c.*125-9204C>T (FBXO11)	ENSP00000402692.1:n.*125-9204C>T
ENST00000445503.5:c.*8G>A (MSH6)	ENSP00000405294.1:n.*8G>A
ENST00000456246.1:c.*149G>A (MSH6)	ENSP00000410570.1:n.*149G>A
ENST00000538136.1:c.-246G>A (MSH6)	ENSP00000438580.1:n.-246G>A
ENST00000540021.5:c.271G>A (MSH6)	ENSP00000446475.1:p.Glu91Lys
ENST00000614496.4:c.-246G>A (MSH6)	ENSP00000477844.1:n.-246G>A
ENST00000616033.4:c.658G>A (MSH6)	ENSP00000480261.1:p.Glu220Lys
ENST00000622629.4:c.-2436G>A (MSH6)	ENSP00000482078.1:n.-2436G>A
NM_000179.2:c.661G>A , LRG_219t1:c.661G>A (MSH6)	NP_000170.1:p.Glu221Lys
NM_001281492.1:c.271G>A (MSH6)	NP_001268421.1:p.Glu91Lys
NM_001281493.1:c.-246G>A (MSH6)	NP_001268422.1:n.-246G>A
NM_001281494.1:c.-246G>A (MSH6)	NP_001268423.1:n.-246G>A
XM_005264271.1:c.364G>A (MSH6)	XP_005264328.1:p.Glu122Lys
XM_011532798.1:c.478G>A (MSH6)	XP_011531100.1:p.Glu160Lys
XM_011532799.1:c.364G>A (MSH6)	XP_011531101.1:p.Glu122Lys
XM_011532800.1:c.364G>A (MSH6)	XP_011531102.1:p.Glu122Lys
XM_024452819.1:c.661G>A (MSH6)	XP_024308587.1:p.Glu221Lys
XM_024452820.1:c.478G>A (MSH6)	XP_024308588.1:p.Glu160Lys
XM_024452821.1:c.364G>A (MSH6)	XP_024308589.1:p.Glu122Lys
XM_024452822.1:c.-246G>A (MSH6)	XP_024308590.1:n.-246G>A
NM_000179.3:c.661G>A (MSH6) MANE Select	NP_000170.1:p.Glu221Lys
NM_001281492.2:c.271G>A (MSH6)	NP_001268421.1:p.Glu91Lys
NM_001281493.2:c.-246G>A (MSH6)	NP_001268422.1:n.-246G>A
NM_001281494.2:c.-246G>A (MSH6)	NP_001268423.1:n.-246G>A