Canonical Allele Identifier: CA346761026

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs1558392158
• MyVariant Identifiers: chr2:g.48033419T>G (hg19) ; chr2:g.47806280T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806280T>G , CM000664.2:g.47806280T>G	GRCh38
NC_000002.11:g.48033419T>G , CM000664.1:g.48033419T>G	GRCh37
NC_000002.10:g.47886923T>G	NCBI36
NG_007111.1:g.28134T>G , LRG_219:g.28134T>G
NG_008397.1:g.104396A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3426T>G (MSH6)	ENSP00000406248.2:p.Cys1142Trp
ENST00000420813.6:c.3426T>G (MSH6)	ENSP00000390382.2:p.Cys1142Trp
ENST00000455383.6:c.3426T>G (MSH6)	ENSP00000397484.2:p.Cys1142Trp
ENST00000700004.2:c.3339T>G (MSH6)	ENSP00000514752.2:p.Cys1113Trp
ENST00000699999.1:n.4397T>G (MSH6)
ENST00000700000.1:c.2157T>G (MSH6)	ENSP00000514749.1:p.Cys719Trp
ENST00000700002.1:c.3729T>G (MSH6)	ENSP00000514750.1:p.Cys1243Trp
ENST00000700003.1:c.1178T>G (MSH6)	ENSP00000514751.1:n.1178T>G
ENST00000700004.1:c.2496T>G (MSH6)	ENSP00000514752.1:p.Cys832Trp
ENST00000700005.1:n.2574T>G (MSH6)
ENST00000700006.1:n.4881T>G (MSH6)
ENST00000700007.1:n.2318T>G (MSH6)
ENST00000700008.1:n.1892T>G (MSH6)
ENST00000700009.1:n.2387T>G (MSH6)
ENST00000700010.1:n.1132T>G (MSH6)
ENST00000700011.1:n.3017T>G (MSH6)
ENST00000682451.1:n.4468A>C (FBXO11)
ENST00000684712.1:n.4730A>C (FBXO11)
ENST00000234420.11:c.3723T>G (MSH6) MANE Select	ENSP00000234420.5:p.Cys1241Trp
ENST00000540021.6:c.3333T>G (MSH6)	ENSP00000446475.1:p.Cys1111Trp
ENST00000652107.1:c.3426T>G (MSH6)	ENSP00000498629.1:p.Cys1142Trp
ENST00000673637.1:c.3426T>G (MSH6)	ENSP00000501310.1:p.Cys1142Trp
ENST00000234420.9:c.3723T>G (MSH6)	ENSP00000234420.4:p.Cys1241Trp
ENST00000405808.5:c.169+1915A>C (FBXO11)	ENSP00000385127.1:n.169+1915A>C
ENST00000434234.5:c.*124+1714A>C (FBXO11)	ENSP00000402692.1:n.*124+1714A>C
ENST00000445503.5:c.*3070T>G (MSH6)	ENSP00000405294.1:n.*3070T>G
ENST00000538136.1:c.2817T>G (MSH6)	ENSP00000438580.1:p.Cys939Trp
ENST00000540021.5:c.3333T>G (MSH6)	ENSP00000446475.1:p.Cys1111Trp
ENST00000614496.4:c.2817T>G (MSH6)	ENSP00000477844.1:p.Cys939Trp
ENST00000622629.4:c.627T>G (MSH6)	ENSP00000482078.1:p.Cys209Trp
NM_000179.2:c.3723T>G , LRG_219t1:c.3723T>G (MSH6)	NP_000170.1:p.Cys1241Trp
NM_001281492.1:c.3333T>G (MSH6)	NP_001268421.1:p.Cys1111Trp
NM_001281493.1:c.2817T>G (MSH6)	NP_001268422.1:p.Cys939Trp
NM_001281494.1:c.2817T>G (MSH6)	NP_001268423.1:p.Cys939Trp
XM_005264271.1:c.3426T>G (MSH6)	XP_005264328.1:p.Cys1142Trp
XM_011532798.1:c.3540T>G (MSH6)	XP_011531100.1:p.Cys1180Trp
XM_011532799.1:c.3426T>G (MSH6)	XP_011531101.1:p.Cys1142Trp
XM_011532800.1:c.3426T>G (MSH6)	XP_011531102.1:p.Cys1142Trp
XM_024452819.1:c.3723T>G (MSH6)	XP_024308587.1:p.Cys1241Trp
XM_024452820.1:c.3540T>G (MSH6)	XP_024308588.1:p.Cys1180Trp
XM_024452821.1:c.3426T>G (MSH6)	XP_024308589.1:p.Cys1142Trp
XM_024452822.1:c.2817T>G (MSH6)	XP_024308590.1:p.Cys939Trp
NM_000179.3:c.3723T>G (MSH6) MANE Select	NP_000170.1:p.Cys1241Trp
NM_001281492.2:c.3333T>G (MSH6)	NP_001268421.1:p.Cys1111Trp
NM_001281493.2:c.2817T>G (MSH6)	NP_001268422.1:p.Cys939Trp
NM_001281494.2:c.2817T>G (MSH6)	NP_001268423.1:p.Cys939Trp