Canonical Allele Identifier: CA068286

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 237148
• ClinVar RCV Id: RCV000229693 ; RCV000482874 ; RCV000491214 ; RCV001192456 ; RCV001356893 ; RCV001798729 ; RCV003469131 ; RCV003998712
• dbSNP Id: rs201096652
• ExAC: 2:48027059 A / G
• gnomAD v2: 2-48027059-A-G
• gnomAD v3: 2-47799920-A-G
• gnomAD v4: 2-47799920-A-G
• COSMIC: COSM4094437
• MyVariant Identifiers: chr2:g.48027059A>G (hg19) ; chr2:g.47799920A>G (hg38)
• PubMed: PMID:17531815

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799920A>G , CM000664.2:g.47799920A>G	GRCh38
NC_000002.11:g.48027059A>G , CM000664.1:g.48027059A>G	GRCh37
NC_000002.10:g.47880563A>G	NCBI36
NG_007111.1:g.21774A>G , LRG_219:g.21774A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1640A>G (MSH6)	ENSP00000406248.2:p.Lys547Arg
ENST00000420813.6:c.1640A>G (MSH6)	ENSP00000390382.2:p.Lys547Arg
ENST00000455383.6:c.1640A>G (MSH6)	ENSP00000397484.2:p.Lys547Arg
ENST00000700004.2:c.1937A>G (MSH6)	ENSP00000514752.2:p.Lys646Arg
ENST00000699999.1:n.2021A>G (MSH6)
ENST00000700000.1:c.1606+331A>G (MSH6)	ENSP00000514749.1:n.1606+331A>G
ENST00000700002.1:c.1943A>G (MSH6)	ENSP00000514750.1:p.Lys648Arg
ENST00000700003.1:c.628-3500A>G (MSH6)	ENSP00000514751.1:n.628-3500A>G
ENST00000700004.1:c.1094A>G (MSH6)	ENSP00000514752.1:p.Lys365Arg
ENST00000234420.11:c.1937A>G (MSH6) MANE Select	ENSP00000234420.5:p.Lys646Arg
ENST00000540021.6:c.1547A>G (MSH6)	ENSP00000446475.1:p.Lys516Arg
ENST00000652107.1:c.1640A>G (MSH6)	ENSP00000498629.1:p.Lys547Arg
ENST00000673637.1:c.1640A>G (MSH6)	ENSP00000501310.1:p.Lys547Arg
ENST00000234420.9:c.1937A>G (MSH6)	ENSP00000234420.4:p.Lys646Arg
ENST00000405808.5:c.169+8275T>C (FBXO11)	ENSP00000385127.1:n.169+8275T>C
ENST00000434234.5:c.*124+8074T>C (FBXO11)	ENSP00000402692.1:n.*124+8074T>C
ENST00000445503.5:c.*1284A>G (MSH6)	ENSP00000405294.1:n.*1284A>G
ENST00000538136.1:c.1031A>G (MSH6)	ENSP00000438580.1:p.Lys344Arg
ENST00000540021.5:c.1547A>G (MSH6)	ENSP00000446475.1:p.Lys516Arg
ENST00000614496.4:c.1031A>G (MSH6)	ENSP00000477844.1:p.Lys344Arg
ENST00000616033.4:c.1934A>G (MSH6)	ENSP00000480261.1:p.Lys645Arg
ENST00000622629.4:c.-1160A>G (MSH6)	ENSP00000482078.1:n.-1160A>G
NM_000179.2:c.1937A>G , LRG_219t1:c.1937A>G (MSH6)	NP_000170.1:p.Lys646Arg
NM_001281492.1:c.1547A>G (MSH6)	NP_001268421.1:p.Lys516Arg
NM_001281493.1:c.1031A>G (MSH6)	NP_001268422.1:p.Lys344Arg
NM_001281494.1:c.1031A>G (MSH6)	NP_001268423.1:p.Lys344Arg
XM_005264271.1:c.1640A>G (MSH6)	XP_005264328.1:p.Lys547Arg
XM_011532798.1:c.1754A>G (MSH6)	XP_011531100.1:p.Lys585Arg
XM_011532799.1:c.1640A>G (MSH6)	XP_011531101.1:p.Lys547Arg
XM_011532800.1:c.1640A>G (MSH6)	XP_011531102.1:p.Lys547Arg
XM_024452819.1:c.1937A>G (MSH6)	XP_024308587.1:p.Lys646Arg
XM_024452820.1:c.1754A>G (MSH6)	XP_024308588.1:p.Lys585Arg
XM_024452821.1:c.1640A>G (MSH6)	XP_024308589.1:p.Lys547Arg
XM_024452822.1:c.1031A>G (MSH6)	XP_024308590.1:p.Lys344Arg
NM_000179.3:c.1937A>G (MSH6) MANE Select	NP_000170.1:p.Lys646Arg
NM_001281492.2:c.1547A>G (MSH6)	NP_001268421.1:p.Lys516Arg
NM_001281493.2:c.1031A>G (MSH6)	NP_001268422.1:p.Lys344Arg
NM_001281494.2:c.1031A>G (MSH6)	NP_001268423.1:p.Lys344Arg