Canonical Allele Identifier: CA013119

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89400
• ClinVar RCV Id: RCV000074868 ; RCV000121587 ; RCV000132123 ; RCV000587729 ; RCV001084016 ; RCV001137560 ; RCV001353894 ; RCV003149723
• dbSNP Id: rs63750252
• ExAC: 2:48032098 A / T
• gnomAD v2: 2-48032098-A-T
• gnomAD v3: 2-47804959-A-T
• gnomAD v4: 2-47804959-A-T
• MyVariant Identifiers: chr2:g.48032098A>T (hg19) ; chr2:g.47804959A>T (hg38)
• PubMed: PMID:15365995 ; PMID:17854147 ; PMID:18566915 ; PMID:21056691 ; PMID:22290698 ; PMID:22766992 ; PMID:24710284 ; PMID:24728327 ; PMID:25871441 ; PMID:26900293

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47804959A>T , CM000664.2:g.47804959A>T	GRCh38
NC_000002.11:g.48032098A>T , CM000664.1:g.48032098A>T	GRCh37
NC_000002.10:g.47885602A>T	NCBI36
NG_007111.1:g.26813A>T , LRG_219:g.26813A>T
NG_008397.1:g.105717T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3191A>T (MSH6)	ENSP00000406248.2:p.Glu1064Val
ENST00000420813.6:c.3191A>T (MSH6)	ENSP00000390382.2:p.Glu1064Val
ENST00000455383.6:c.3191A>T (MSH6)	ENSP00000397484.2:p.Glu1064Val
ENST00000700004.2:c.3173-659A>T (MSH6)	ENSP00000514752.2:n.3173-659A>T
ENST00000699999.1:n.3572A>T (MSH6)
ENST00000700000.1:c.1922A>T (MSH6)	ENSP00000514749.1:p.Glu641Val
ENST00000700002.1:c.3494A>T (MSH6)	ENSP00000514750.1:p.Glu1165Val
ENST00000700003.1:c.943A>T (MSH6)	ENSP00000514751.1:n.943A>T
ENST00000700004.1:c.2330-659A>T (MSH6)	ENSP00000514752.1:n.2330-659A>T
ENST00000700005.1:n.2339A>T (MSH6)
ENST00000700006.1:n.3560A>T (MSH6)
ENST00000700007.1:n.1493A>T (MSH6)
ENST00000700008.1:n.1067A>T (MSH6)
ENST00000700009.1:n.1066A>T (MSH6)
ENST00000700010.1:n.897A>T (MSH6)
ENST00000700011.1:n.2192A>T (MSH6)
ENST00000234420.11:c.3488A>T (MSH6) MANE Select	ENSP00000234420.5:p.Glu1163Val
ENST00000540021.6:c.3098A>T (MSH6)	ENSP00000446475.1:p.Glu1033Val
ENST00000652107.1:c.3191A>T (MSH6)	ENSP00000498629.1:p.Glu1064Val
ENST00000673637.1:c.3191A>T (MSH6)	ENSP00000501310.1:p.Glu1064Val
ENST00000234420.9:c.3488A>T (MSH6)	ENSP00000234420.4:p.Glu1163Val
ENST00000405808.5:c.169+3236T>A (FBXO11)	ENSP00000385127.1:n.169+3236T>A
ENST00000434234.5:c.*124+3035T>A (FBXO11)	ENSP00000402692.1:n.*124+3035T>A
ENST00000445503.5:c.*2835A>T (MSH6)	ENSP00000405294.1:n.*2835A>T
ENST00000538136.1:c.2582A>T (MSH6)	ENSP00000438580.1:p.Glu861Val
ENST00000540021.5:c.3098A>T (MSH6)	ENSP00000446475.1:p.Glu1033Val
ENST00000614496.4:c.2582A>T (MSH6)	ENSP00000477844.1:p.Glu861Val
ENST00000622629.4:c.392A>T (MSH6)	ENSP00000482078.1:p.Glu131Val
NM_000179.2:c.3488A>T , LRG_219t1:c.3488A>T (MSH6)	NP_000170.1:p.Glu1163Val
NM_001281492.1:c.3098A>T (MSH6)	NP_001268421.1:p.Glu1033Val
NM_001281493.1:c.2582A>T (MSH6)	NP_001268422.1:p.Glu861Val
NM_001281494.1:c.2582A>T (MSH6)	NP_001268423.1:p.Glu861Val
XM_005264271.1:c.3191A>T (MSH6)	XP_005264328.1:p.Glu1064Val
XM_011532798.1:c.3305A>T (MSH6)	XP_011531100.1:p.Glu1102Val
XM_011532799.1:c.3191A>T (MSH6)	XP_011531101.1:p.Glu1064Val
XM_011532800.1:c.3191A>T (MSH6)	XP_011531102.1:p.Glu1064Val
XM_024452819.1:c.3488A>T (MSH6)	XP_024308587.1:p.Glu1163Val
XM_024452820.1:c.3305A>T (MSH6)	XP_024308588.1:p.Glu1102Val
XM_024452821.1:c.3191A>T (MSH6)	XP_024308589.1:p.Glu1064Val
XM_024452822.1:c.2582A>T (MSH6)	XP_024308590.1:p.Glu861Val
NM_000179.3:c.3488A>T (MSH6) MANE Select	NP_000170.1:p.Glu1163Val
NM_001281492.2:c.3098A>T (MSH6)	NP_001268421.1:p.Glu1033Val
NM_001281493.2:c.2582A>T (MSH6)	NP_001268422.1:p.Glu861Val
NM_001281494.2:c.2582A>T (MSH6)	NP_001268423.1:p.Glu861Val