Canonical Allele Identifier: CA015038

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89497
• ClinVar RCV Id: RCV001311190 ; RCV003925032
• dbSNP Id: rs199594809
• ExAC: 2:48033775 C / T
• gnomAD v2: 2-48033775-C-T
• gnomAD v3: 2-47806636-C-T
• gnomAD v4: 2-47806636-C-T
• MyVariant Identifiers: chr2:g.48033775C>T (hg19) ; chr2:g.47806636C>T (hg38)
• PubMed: PMID:17531815 ; PMID:18301448 ; PMID:22290698 ; PMID:23621914 ; PMID:25142776 ; PMID:27060149

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806636C>T , CM000664.2:g.47806636C>T	GRCh38
NC_000002.11:g.48033775C>T , CM000664.1:g.48033775C>T	GRCh37
NC_000002.10:g.47887279C>T	NCBI36
NG_007111.1:g.28490C>T , LRG_219:g.28490C>T
NG_008397.1:g.104040G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3689C>T (MSH6)	ENSP00000406248.2:p.Ser1230Leu
ENST00000420813.6:c.3689C>T (MSH6)	ENSP00000390382.2:p.Ser1230Leu
ENST00000455383.6:c.3689C>T (MSH6)	ENSP00000397484.2:p.Ser1230Leu
ENST00000700004.2:c.3602C>T (MSH6)	ENSP00000514752.2:p.Ser1201Leu
ENST00000699999.1:n.4660C>T (MSH6)
ENST00000700000.1:c.2420C>T (MSH6)	ENSP00000514749.1:p.Ser807Leu
ENST00000700002.1:c.3992C>T (MSH6)	ENSP00000514750.1:p.Ser1331Leu
ENST00000700003.1:c.1441C>T (MSH6)	ENSP00000514751.1:n.1441C>T
ENST00000700004.1:c.2759C>T (MSH6)	ENSP00000514752.1:p.Ser920Leu
ENST00000700005.1:n.2837C>T (MSH6)
ENST00000700006.1:n.5144C>T (MSH6)
ENST00000700007.1:n.2581C>T (MSH6)
ENST00000700008.1:n.2248C>T (MSH6)
ENST00000700009.1:n.2650C>T (MSH6)
ENST00000700010.1:n.1395C>T (MSH6)
ENST00000700011.1:n.3280C>T (MSH6)
ENST00000682451.1:n.4112G>A (FBXO11)
ENST00000684712.1:n.4374G>A (FBXO11)
ENST00000234420.11:c.3986C>T (MSH6) MANE Select	ENSP00000234420.5:p.Ser1329Leu
ENST00000540021.6:c.3596C>T (MSH6)	ENSP00000446475.1:p.Ser1199Leu
ENST00000652107.1:c.3689C>T (MSH6)	ENSP00000498629.1:p.Ser1230Leu
ENST00000673637.1:c.3689C>T (MSH6)	ENSP00000501310.1:p.Ser1230Leu
ENST00000234420.9:c.3986C>T (MSH6)	ENSP00000234420.4:p.Ser1329Leu
ENST00000405808.5:c.169+1559G>A (FBXO11)	ENSP00000385127.1:n.169+1559G>A
ENST00000434234.5:c.*124+1358G>A (FBXO11)	ENSP00000402692.1:n.*124+1358G>A
ENST00000445503.5:c.*3333C>T (MSH6)	ENSP00000405294.1:n.*3333C>T
ENST00000538136.1:c.3080C>T (MSH6)	ENSP00000438580.1:p.Ser1027Leu
ENST00000540021.5:c.3596C>T (MSH6)	ENSP00000446475.1:p.Ser1199Leu
ENST00000614496.4:c.3080C>T (MSH6)	ENSP00000477844.1:p.Ser1027Leu
ENST00000622629.4:c.887C>T (MSH6)	ENSP00000482078.1:p.Ser296Leu
NM_000179.2:c.3986C>T , LRG_219t1:c.3986C>T (MSH6)	NP_000170.1:p.Ser1329Leu
NM_001281492.1:c.3596C>T (MSH6)	NP_001268421.1:p.Ser1199Leu
NM_001281493.1:c.3080C>T (MSH6)	NP_001268422.1:p.Ser1027Leu
NM_001281494.1:c.3080C>T (MSH6)	NP_001268423.1:p.Ser1027Leu
XM_005264271.1:c.3689C>T (MSH6)	XP_005264328.1:p.Ser1230Leu
XM_011532798.1:c.3803C>T (MSH6)	XP_011531100.1:p.Ser1268Leu
XM_011532799.1:c.3689C>T (MSH6)	XP_011531101.1:p.Ser1230Leu
XM_011532800.1:c.3689C>T (MSH6)	XP_011531102.1:p.Ser1230Leu
XM_024452819.1:c.4079C>T (MSH6)	XP_024308587.1:p.Ser1360Leu
XM_024452820.1:c.3896C>T (MSH6)	XP_024308588.1:p.Ser1299Leu
XM_024452821.1:c.3782C>T (MSH6)	XP_024308589.1:p.Ser1261Leu
XM_024452822.1:c.3173C>T (MSH6)	XP_024308590.1:p.Ser1058Leu
NM_000179.3:c.3986C>T (MSH6) MANE Select	NP_000170.1:p.Ser1329Leu
NM_001281492.2:c.3596C>T (MSH6)	NP_001268421.1:p.Ser1199Leu
NM_001281493.2:c.3080C>T (MSH6)	NP_001268422.1:p.Ser1027Leu
NM_001281494.2:c.3080C>T (MSH6)	NP_001268423.1:p.Ser1027Leu