Canonical Allele Identifier: CA014214

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89457
• ClinVar RCV Id: RCV000160699 ; RCV000212689 ; RCV000408995 ; RCV000524187 ; RCV000587284
• dbSNP Id: rs375459388
• ExAC: 2:48033458 A / T
• gnomAD v2: 2-48033458-A-T
• gnomAD v3: 2-47806319-A-T
• gnomAD v4: 2-47806319-A-T
• MyVariant Identifiers: chr2:g.48033458A>T (hg19) ; chr2:g.47806319A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806319A>T , CM000664.2:g.47806319A>T	GRCh38
NC_000002.11:g.48033458A>T , CM000664.1:g.48033458A>T	GRCh37
NC_000002.10:g.47886962A>T	NCBI36
NG_007111.1:g.28173A>T , LRG_219:g.28173A>T
NG_008397.1:g.104357T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3465A>T (MSH6)	ENSP00000406248.2:p.Glu1155Asp
ENST00000420813.6:c.3465A>T (MSH6)	ENSP00000390382.2:p.Glu1155Asp
ENST00000455383.6:c.3465A>T (MSH6)	ENSP00000397484.2:p.Glu1155Asp
ENST00000700004.2:c.3378A>T (MSH6)	ENSP00000514752.2:p.Glu1126Asp
ENST00000699999.1:n.4436A>T (MSH6)
ENST00000700000.1:c.2196A>T (MSH6)	ENSP00000514749.1:p.Glu732Asp
ENST00000700002.1:c.3768A>T (MSH6)	ENSP00000514750.1:p.Glu1256Asp
ENST00000700003.1:c.1217A>T (MSH6)	ENSP00000514751.1:n.1217A>T
ENST00000700004.1:c.2535A>T (MSH6)	ENSP00000514752.1:p.Glu845Asp
ENST00000700005.1:n.2613A>T (MSH6)
ENST00000700006.1:n.4920A>T (MSH6)
ENST00000700007.1:n.2357A>T (MSH6)
ENST00000700008.1:n.1931A>T (MSH6)
ENST00000700009.1:n.2426A>T (MSH6)
ENST00000700010.1:n.1171A>T (MSH6)
ENST00000700011.1:n.3056A>T (MSH6)
ENST00000682451.1:n.4429T>A (FBXO11)
ENST00000684712.1:n.4691T>A (FBXO11)
ENST00000234420.11:c.3762A>T (MSH6) MANE Select	ENSP00000234420.5:p.Glu1254Asp
ENST00000540021.6:c.3372A>T (MSH6)	ENSP00000446475.1:p.Glu1124Asp
ENST00000652107.1:c.3465A>T (MSH6)	ENSP00000498629.1:p.Glu1155Asp
ENST00000673637.1:c.3465A>T (MSH6)	ENSP00000501310.1:p.Glu1155Asp
ENST00000234420.9:c.3762A>T (MSH6)	ENSP00000234420.4:p.Glu1254Asp
ENST00000405808.5:c.169+1876T>A (FBXO11)	ENSP00000385127.1:n.169+1876T>A
ENST00000434234.5:c.*124+1675T>A (FBXO11)	ENSP00000402692.1:n.*124+1675T>A
ENST00000445503.5:c.*3109A>T (MSH6)	ENSP00000405294.1:n.*3109A>T
ENST00000538136.1:c.2856A>T (MSH6)	ENSP00000438580.1:p.Glu952Asp
ENST00000540021.5:c.3372A>T (MSH6)	ENSP00000446475.1:p.Glu1124Asp
ENST00000614496.4:c.2856A>T (MSH6)	ENSP00000477844.1:p.Glu952Asp
ENST00000622629.4:c.664A>T (MSH6)	ENSP00000482078.1:p.Arg222Ter
NM_000179.2:c.3762A>T , LRG_219t1:c.3762A>T (MSH6)	NP_000170.1:p.Glu1254Asp
NM_001281492.1:c.3372A>T (MSH6)	NP_001268421.1:p.Glu1124Asp
NM_001281493.1:c.2856A>T (MSH6)	NP_001268422.1:p.Glu952Asp
NM_001281494.1:c.2856A>T (MSH6)	NP_001268423.1:p.Glu952Asp
XM_005264271.1:c.3465A>T (MSH6)	XP_005264328.1:p.Glu1155Asp
XM_011532798.1:c.3579A>T (MSH6)	XP_011531100.1:p.Glu1193Asp
XM_011532799.1:c.3465A>T (MSH6)	XP_011531101.1:p.Glu1155Asp
XM_011532800.1:c.3465A>T (MSH6)	XP_011531102.1:p.Glu1155Asp
XM_024452819.1:c.3762A>T (MSH6)	XP_024308587.1:p.Glu1254Asp
XM_024452820.1:c.3579A>T (MSH6)	XP_024308588.1:p.Glu1193Asp
XM_024452821.1:c.3465A>T (MSH6)	XP_024308589.1:p.Glu1155Asp
XM_024452822.1:c.2856A>T (MSH6)	XP_024308590.1:p.Glu952Asp
NM_000179.3:c.3762A>T (MSH6) MANE Select	NP_000170.1:p.Glu1254Asp
NM_001281492.2:c.3372A>T (MSH6)	NP_001268421.1:p.Glu1124Asp
NM_001281493.2:c.2856A>T (MSH6)	NP_001268422.1:p.Glu952Asp
NM_001281494.2:c.2856A>T (MSH6)	NP_001268423.1:p.Glu952Asp