Canonical Allele Identifier: CA346761548

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 433932
• ClinVar RCV Id: RCV001035303 ; RCV001200630 ; RCV001249980 ; RCV002358383 ; RCV003449415
• dbSNP Id: rs1553333707
• COSMIC: COSM288679
• MyVariant Identifiers: chr2:g.48033753G>T (hg19) ; chr2:g.47806614G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806614G>T , CM000664.2:g.47806614G>T	GRCh38
NC_000002.11:g.48033753G>T , CM000664.1:g.48033753G>T	GRCh37
NC_000002.10:g.47887257G>T	NCBI36
NG_007111.1:g.28468G>T , LRG_219:g.28468G>T
NG_008397.1:g.104062C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3667G>T (MSH6)	ENSP00000406248.2:p.Glu1223Ter
ENST00000420813.6:c.3667G>T (MSH6)	ENSP00000390382.2:p.Glu1223Ter
ENST00000455383.6:c.3667G>T (MSH6)	ENSP00000397484.2:p.Glu1223Ter
ENST00000700004.2:c.3580G>T (MSH6)	ENSP00000514752.2:p.Glu1194Ter
ENST00000699999.1:n.4638G>T (MSH6)
ENST00000700000.1:c.2398G>T (MSH6)	ENSP00000514749.1:p.Glu800Ter
ENST00000700002.1:c.3970G>T (MSH6)	ENSP00000514750.1:p.Glu1324Ter
ENST00000700003.1:c.1419G>T (MSH6)	ENSP00000514751.1:n.1419G>T
ENST00000700004.1:c.2737G>T (MSH6)	ENSP00000514752.1:p.Glu913Ter
ENST00000700005.1:n.2815G>T (MSH6)
ENST00000700006.1:n.5122G>T (MSH6)
ENST00000700007.1:n.2559G>T (MSH6)
ENST00000700008.1:n.2226G>T (MSH6)
ENST00000700009.1:n.2628G>T (MSH6)
ENST00000700010.1:n.1373G>T (MSH6)
ENST00000700011.1:n.3258G>T (MSH6)
ENST00000682451.1:n.4134C>A (FBXO11)
ENST00000684712.1:n.4396C>A (FBXO11)
ENST00000234420.11:c.3964G>T (MSH6) MANE Select	ENSP00000234420.5:p.Glu1322Ter
ENST00000540021.6:c.3574G>T (MSH6)	ENSP00000446475.1:p.Glu1192Ter
ENST00000652107.1:c.3667G>T (MSH6)	ENSP00000498629.1:p.Glu1223Ter
ENST00000673637.1:c.3667G>T (MSH6)	ENSP00000501310.1:p.Glu1223Ter
ENST00000234420.9:c.3964G>T (MSH6)	ENSP00000234420.4:p.Glu1322Ter
ENST00000405808.5:c.169+1581C>A (FBXO11)	ENSP00000385127.1:n.169+1581C>A
ENST00000434234.5:c.*124+1380C>A (FBXO11)	ENSP00000402692.1:n.*124+1380C>A
ENST00000445503.5:c.*3311G>T (MSH6)	ENSP00000405294.1:n.*3311G>T
ENST00000538136.1:c.3058G>T (MSH6)	ENSP00000438580.1:p.Glu1020Ter
ENST00000540021.5:c.3574G>T (MSH6)	ENSP00000446475.1:p.Glu1192Ter
ENST00000614496.4:c.3058G>T (MSH6)	ENSP00000477844.1:p.Glu1020Ter
ENST00000622629.4:c.865G>T (MSH6)	ENSP00000482078.1:p.Glu289Ter
NM_000179.2:c.3964G>T , LRG_219t1:c.3964G>T (MSH6)	NP_000170.1:p.Glu1322Ter
NM_001281492.1:c.3574G>T (MSH6)	NP_001268421.1:p.Glu1192Ter
NM_001281493.1:c.3058G>T (MSH6)	NP_001268422.1:p.Glu1020Ter
NM_001281494.1:c.3058G>T (MSH6)	NP_001268423.1:p.Glu1020Ter
XM_005264271.1:c.3667G>T (MSH6)	XP_005264328.1:p.Glu1223Ter
XM_011532798.1:c.3781G>T (MSH6)	XP_011531100.1:p.Glu1261Ter
XM_011532799.1:c.3667G>T (MSH6)	XP_011531101.1:p.Glu1223Ter
XM_011532800.1:c.3667G>T (MSH6)	XP_011531102.1:p.Glu1223Ter
XM_024452819.1:c.4057G>T (MSH6)	XP_024308587.1:p.Glu1353Ter
XM_024452820.1:c.3874G>T (MSH6)	XP_024308588.1:p.Glu1292Ter
XM_024452821.1:c.3760G>T (MSH6)	XP_024308589.1:p.Glu1254Ter
XM_024452822.1:c.3151G>T (MSH6)	XP_024308590.1:p.Glu1051Ter
NM_000179.3:c.3964G>T (MSH6) MANE Select	NP_000170.1:p.Glu1322Ter
NM_001281492.2:c.3574G>T (MSH6)	NP_001268421.1:p.Glu1192Ter
NM_001281493.2:c.3058G>T (MSH6)	NP_001268422.1:p.Glu1020Ter
NM_001281494.2:c.3058G>T (MSH6)	NP_001268423.1:p.Glu1020Ter