Canonical Allele Identifier: CA071942

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 231211
• ClinVar RCV Id: RCV000220341 ; RCV000552496 ; RCV001775683 ; RCV003224227 ; RCV003997889
• dbSNP Id: rs63750882
• ExAC: 2:48033438 C / T
• gnomAD v2: 2-48033438-C-T
• gnomAD v3: 2-47806299-C-T
• gnomAD v4: 2-47806299-C-T
• MyVariant Identifiers: chr2:g.48033438C>T (hg19) ; chr2:g.47806299C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806299C>T , CM000664.2:g.47806299C>T	GRCh38
NC_000002.11:g.48033438C>T , CM000664.1:g.48033438C>T	GRCh37
NC_000002.10:g.47886942C>T	NCBI36
NG_007111.1:g.28153C>T , LRG_219:g.28153C>T
NG_008397.1:g.104377G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3445C>T (MSH6)	ENSP00000406248.2:p.His1149Tyr
ENST00000420813.6:c.3445C>T (MSH6)	ENSP00000390382.2:p.His1149Tyr
ENST00000455383.6:c.3445C>T (MSH6)	ENSP00000397484.2:p.His1149Tyr
ENST00000700004.2:c.3358C>T (MSH6)	ENSP00000514752.2:p.His1120Tyr
ENST00000699999.1:n.4416C>T (MSH6)
ENST00000700000.1:c.2176C>T (MSH6)	ENSP00000514749.1:p.His726Tyr
ENST00000700002.1:c.3748C>T (MSH6)	ENSP00000514750.1:p.His1250Tyr
ENST00000700003.1:c.1197C>T (MSH6)	ENSP00000514751.1:n.1197C>T
ENST00000700004.1:c.2515C>T (MSH6)	ENSP00000514752.1:p.His839Tyr
ENST00000700005.1:n.2593C>T (MSH6)
ENST00000700006.1:n.4900C>T (MSH6)
ENST00000700007.1:n.2337C>T (MSH6)
ENST00000700008.1:n.1911C>T (MSH6)
ENST00000700009.1:n.2406C>T (MSH6)
ENST00000700010.1:n.1151C>T (MSH6)
ENST00000700011.1:n.3036C>T (MSH6)
ENST00000682451.1:n.4449G>A (FBXO11)
ENST00000684712.1:n.4711G>A (FBXO11)
ENST00000234420.11:c.3742C>T (MSH6) MANE Select	ENSP00000234420.5:p.His1248Tyr
ENST00000540021.6:c.3352C>T (MSH6)	ENSP00000446475.1:p.His1118Tyr
ENST00000652107.1:c.3445C>T (MSH6)	ENSP00000498629.1:p.His1149Tyr
ENST00000673637.1:c.3445C>T (MSH6)	ENSP00000501310.1:p.His1149Tyr
ENST00000234420.9:c.3742C>T (MSH6)	ENSP00000234420.4:p.His1248Tyr
ENST00000405808.5:c.169+1896G>A (FBXO11)	ENSP00000385127.1:n.169+1896G>A
ENST00000434234.5:c.*124+1695G>A (FBXO11)	ENSP00000402692.1:n.*124+1695G>A
ENST00000445503.5:c.*3089C>T (MSH6)	ENSP00000405294.1:n.*3089C>T
ENST00000538136.1:c.2836C>T (MSH6)	ENSP00000438580.1:p.His946Tyr
ENST00000540021.5:c.3352C>T (MSH6)	ENSP00000446475.1:p.His1118Tyr
ENST00000614496.4:c.2836C>T (MSH6)	ENSP00000477844.1:p.His946Tyr
ENST00000622629.4:c.646C>T (MSH6)	ENSP00000482078.1:p.His216Tyr
NM_000179.2:c.3742C>T , LRG_219t1:c.3742C>T (MSH6)	NP_000170.1:p.His1248Tyr
NM_001281492.1:c.3352C>T (MSH6)	NP_001268421.1:p.His1118Tyr
NM_001281493.1:c.2836C>T (MSH6)	NP_001268422.1:p.His946Tyr
NM_001281494.1:c.2836C>T (MSH6)	NP_001268423.1:p.His946Tyr
XM_005264271.1:c.3445C>T (MSH6)	XP_005264328.1:p.His1149Tyr
XM_011532798.1:c.3559C>T (MSH6)	XP_011531100.1:p.His1187Tyr
XM_011532799.1:c.3445C>T (MSH6)	XP_011531101.1:p.His1149Tyr
XM_011532800.1:c.3445C>T (MSH6)	XP_011531102.1:p.His1149Tyr
XM_024452819.1:c.3742C>T (MSH6)	XP_024308587.1:p.His1248Tyr
XM_024452820.1:c.3559C>T (MSH6)	XP_024308588.1:p.His1187Tyr
XM_024452821.1:c.3445C>T (MSH6)	XP_024308589.1:p.His1149Tyr
XM_024452822.1:c.2836C>T (MSH6)	XP_024308590.1:p.His946Tyr
NM_000179.3:c.3742C>T (MSH6) MANE Select	NP_000170.1:p.His1248Tyr
NM_001281492.2:c.3352C>T (MSH6)	NP_001268421.1:p.His1118Tyr
NM_001281493.2:c.2836C>T (MSH6)	NP_001268422.1:p.His946Tyr
NM_001281494.2:c.2836C>T (MSH6)	NP_001268423.1:p.His946Tyr