Canonical Allele Identifier: CA008501

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89188
• ClinVar RCV Id: RCV000074650
• dbSNP Id: rs587779211
• gnomAD v4: 2-47799321-A-T
• MyVariant Identifiers: chr2:g.48026460A>T (hg19) ; chr2:g.47799321A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799321A>T , CM000664.2:g.47799321A>T	GRCh38
NC_000002.11:g.48026460A>T , CM000664.1:g.48026460A>T	GRCh37
NC_000002.10:g.47879964A>T	NCBI36
NG_007111.1:g.21175A>T , LRG_219:g.21175A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1041A>T (MSH6)	ENSP00000406248.2:p.Glu347Asp
ENST00000420813.6:c.1041A>T (MSH6)	ENSP00000390382.2:p.Glu347Asp
ENST00000455383.6:c.1041A>T (MSH6)	ENSP00000397484.2:p.Glu347Asp
ENST00000700004.2:c.1338A>T (MSH6)	ENSP00000514752.2:p.Glu446Asp
ENST00000699999.1:n.1422A>T (MSH6)
ENST00000700000.1:c.1338A>T (MSH6)	ENSP00000514749.1:p.Glu446Asp
ENST00000700002.1:c.1344A>T (MSH6)	ENSP00000514750.1:p.Glu448Asp
ENST00000700003.1:c.627+3258A>T (MSH6)	ENSP00000514751.1:n.627+3258A>T
ENST00000700004.1:c.495A>T (MSH6)	ENSP00000514752.1:p.Glu165Asp
ENST00000234420.11:c.1338A>T (MSH6) MANE Select	ENSP00000234420.5:p.Glu446Asp
ENST00000540021.6:c.948A>T (MSH6)	ENSP00000446475.1:p.Glu316Asp
ENST00000652107.1:c.1041A>T (MSH6)	ENSP00000498629.1:p.Glu347Asp
ENST00000673637.1:c.1041A>T (MSH6)	ENSP00000501310.1:p.Glu347Asp
ENST00000234420.9:c.1338A>T (MSH6)	ENSP00000234420.4:p.Glu446Asp
ENST00000405808.5:c.169+8874T>A (FBXO11)	ENSP00000385127.1:n.169+8874T>A
ENST00000434234.5:c.*124+8673T>A (FBXO11)	ENSP00000402692.1:n.*124+8673T>A
ENST00000445503.5:c.*685A>T (MSH6)	ENSP00000405294.1:n.*685A>T
ENST00000538136.1:c.432A>T (MSH6)	ENSP00000438580.1:p.Glu144Asp
ENST00000540021.5:c.948A>T (MSH6)	ENSP00000446475.1:p.Glu316Asp
ENST00000614496.4:c.432A>T (MSH6)	ENSP00000477844.1:p.Glu144Asp
ENST00000616033.4:c.1335A>T (MSH6)	ENSP00000480261.1:p.Glu445Asp
ENST00000622629.4:c.-1759A>T (MSH6)	ENSP00000482078.1:n.-1759A>T
NM_000179.2:c.1338A>T , LRG_219t1:c.1338A>T (MSH6)	NP_000170.1:p.Glu446Asp
NM_001281492.1:c.948A>T (MSH6)	NP_001268421.1:p.Glu316Asp
NM_001281493.1:c.432A>T (MSH6)	NP_001268422.1:p.Glu144Asp
NM_001281494.1:c.432A>T (MSH6)	NP_001268423.1:p.Glu144Asp
XM_005264271.1:c.1041A>T (MSH6)	XP_005264328.1:p.Glu347Asp
XM_011532798.1:c.1155A>T (MSH6)	XP_011531100.1:p.Glu385Asp
XM_011532799.1:c.1041A>T (MSH6)	XP_011531101.1:p.Glu347Asp
XM_011532800.1:c.1041A>T (MSH6)	XP_011531102.1:p.Glu347Asp
XM_024452819.1:c.1338A>T (MSH6)	XP_024308587.1:p.Glu446Asp
XM_024452820.1:c.1155A>T (MSH6)	XP_024308588.1:p.Glu385Asp
XM_024452821.1:c.1041A>T (MSH6)	XP_024308589.1:p.Glu347Asp
XM_024452822.1:c.432A>T (MSH6)	XP_024308590.1:p.Glu144Asp
NM_000179.3:c.1338A>T (MSH6) MANE Select	NP_000170.1:p.Glu446Asp
NM_001281492.2:c.948A>T (MSH6)	NP_001268421.1:p.Glu316Asp
NM_001281493.2:c.432A>T (MSH6)	NP_001268422.1:p.Glu144Asp
NM_001281494.2:c.432A>T (MSH6)	NP_001268423.1:p.Glu144Asp