Canonical Allele Identifier: CA346760279

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2764530
• ClinVar RCV Id: RCV003594438
• MyVariant Identifiers: chr2:g.48032166G>T (hg19) ; chr2:g.47805027G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805027G>T , CM000664.2:g.47805027G>T	GRCh38
NC_000002.11:g.48032166G>T , CM000664.1:g.48032166G>T	GRCh37
NC_000002.10:g.47885670G>T	NCBI36
NG_007111.1:g.26881G>T , LRG_219:g.26881G>T
NG_008397.1:g.105649C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3259G>T (MSH6)	ENSP00000406248.2:p.Gly1087Cys
ENST00000420813.6:c.3259G>T (MSH6)	ENSP00000390382.2:p.Gly1087Cys
ENST00000455383.6:c.3259G>T (MSH6)	ENSP00000397484.2:p.Gly1087Cys
ENST00000700004.2:c.3173-591G>T (MSH6)	ENSP00000514752.2:n.3173-591G>T
ENST00000699999.1:n.3640G>T (MSH6)
ENST00000700000.1:c.1990G>T (MSH6)	ENSP00000514749.1:p.Gly664Cys
ENST00000700002.1:c.3562G>T (MSH6)	ENSP00000514750.1:p.Gly1188Cys
ENST00000700003.1:c.1011G>T (MSH6)	ENSP00000514751.1:n.1011G>T
ENST00000700004.1:c.2330-591G>T (MSH6)	ENSP00000514752.1:n.2330-591G>T
ENST00000700005.1:n.2407G>T (MSH6)
ENST00000700006.1:n.3628G>T (MSH6)
ENST00000700007.1:n.1561G>T (MSH6)
ENST00000700008.1:n.1135G>T (MSH6)
ENST00000700009.1:n.1134G>T (MSH6)
ENST00000700010.1:n.965G>T (MSH6)
ENST00000700011.1:n.2260G>T (MSH6)
ENST00000234420.11:c.3556G>T (MSH6) MANE Select	ENSP00000234420.5:p.Gly1186Cys
ENST00000540021.6:c.3166G>T (MSH6)	ENSP00000446475.1:p.Gly1056Cys
ENST00000652107.1:c.3259G>T (MSH6)	ENSP00000498629.1:p.Gly1087Cys
ENST00000673637.1:c.3259G>T (MSH6)	ENSP00000501310.1:p.Gly1087Cys
ENST00000234420.9:c.3556G>T (MSH6)	ENSP00000234420.4:p.Gly1186Cys
ENST00000405808.5:c.169+3168C>A (FBXO11)	ENSP00000385127.1:n.169+3168C>A
ENST00000434234.5:c.*124+2967C>A (FBXO11)	ENSP00000402692.1:n.*124+2967C>A
ENST00000445503.5:c.*2903G>T (MSH6)	ENSP00000405294.1:n.*2903G>T
ENST00000538136.1:c.2650G>T (MSH6)	ENSP00000438580.1:p.Gly884Cys
ENST00000540021.5:c.3166G>T (MSH6)	ENSP00000446475.1:p.Gly1056Cys
ENST00000614496.4:c.2650G>T (MSH6)	ENSP00000477844.1:p.Gly884Cys
ENST00000622629.4:c.460G>T (MSH6)	ENSP00000482078.1:p.Gly154Cys
NM_000179.2:c.3556G>T , LRG_219t1:c.3556G>T (MSH6)	NP_000170.1:p.Gly1186Cys
NM_001281492.1:c.3166G>T (MSH6)	NP_001268421.1:p.Gly1056Cys
NM_001281493.1:c.2650G>T (MSH6)	NP_001268422.1:p.Gly884Cys
NM_001281494.1:c.2650G>T (MSH6)	NP_001268423.1:p.Gly884Cys
XM_005264271.1:c.3259G>T (MSH6)	XP_005264328.1:p.Gly1087Cys
XM_011532798.1:c.3373G>T (MSH6)	XP_011531100.1:p.Gly1125Cys
XM_011532799.1:c.3259G>T (MSH6)	XP_011531101.1:p.Gly1087Cys
XM_011532800.1:c.3259G>T (MSH6)	XP_011531102.1:p.Gly1087Cys
XM_024452819.1:c.3556G>T (MSH6)	XP_024308587.1:p.Gly1186Cys
XM_024452820.1:c.3373G>T (MSH6)	XP_024308588.1:p.Gly1125Cys
XM_024452821.1:c.3259G>T (MSH6)	XP_024308589.1:p.Gly1087Cys
XM_024452822.1:c.2650G>T (MSH6)	XP_024308590.1:p.Gly884Cys
NM_000179.3:c.3556G>T (MSH6) MANE Select	NP_000170.1:p.Gly1186Cys
NM_001281492.2:c.3166G>T (MSH6)	NP_001268421.1:p.Gly1056Cys
NM_001281493.2:c.2650G>T (MSH6)	NP_001268422.1:p.Gly884Cys
NM_001281494.2:c.2650G>T (MSH6)	NP_001268423.1:p.Gly884Cys