Canonical Allele Identifier: CA071913

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 945402
• ClinVar RCV Id: RCV001216034 ; RCV003142159 ; RCV003363173
• dbSNP Id: rs147453999
• ExAC: 2:48033423 A / G
• gnomAD v2: 2-48033423-A-G
• gnomAD v4: 2-47806284-A-G
• MyVariant Identifiers: chr2:g.48033423A>G (hg19) ; chr2:g.47806284A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806284A>G , CM000664.2:g.47806284A>G	GRCh38
NC_000002.11:g.48033423A>G , CM000664.1:g.48033423A>G	GRCh37
NC_000002.10:g.47886927A>G	NCBI36
NG_007111.1:g.28138A>G , LRG_219:g.28138A>G
NG_008397.1:g.104392T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3430A>G (MSH6)	ENSP00000406248.2:p.Thr1144Ala
ENST00000420813.6:c.3430A>G (MSH6)	ENSP00000390382.2:p.Thr1144Ala
ENST00000455383.6:c.3430A>G (MSH6)	ENSP00000397484.2:p.Thr1144Ala
ENST00000700004.2:c.3343A>G (MSH6)	ENSP00000514752.2:p.Thr1115Ala
ENST00000699999.1:n.4401A>G (MSH6)
ENST00000700000.1:c.2161A>G (MSH6)	ENSP00000514749.1:p.Thr721Ala
ENST00000700002.1:c.3733A>G (MSH6)	ENSP00000514750.1:p.Thr1245Ala
ENST00000700003.1:c.1182A>G (MSH6)	ENSP00000514751.1:n.1182A>G
ENST00000700004.1:c.2500A>G (MSH6)	ENSP00000514752.1:p.Thr834Ala
ENST00000700005.1:n.2578A>G (MSH6)
ENST00000700006.1:n.4885A>G (MSH6)
ENST00000700007.1:n.2322A>G (MSH6)
ENST00000700008.1:n.1896A>G (MSH6)
ENST00000700009.1:n.2391A>G (MSH6)
ENST00000700010.1:n.1136A>G (MSH6)
ENST00000700011.1:n.3021A>G (MSH6)
ENST00000682451.1:n.4464T>C (FBXO11)
ENST00000684712.1:n.4726T>C (FBXO11)
ENST00000234420.11:c.3727A>G (MSH6) MANE Select	ENSP00000234420.5:p.Thr1243Ala
ENST00000540021.6:c.3337A>G (MSH6)	ENSP00000446475.1:p.Thr1113Ala
ENST00000652107.1:c.3430A>G (MSH6)	ENSP00000498629.1:p.Thr1144Ala
ENST00000673637.1:c.3430A>G (MSH6)	ENSP00000501310.1:p.Thr1144Ala
ENST00000234420.9:c.3727A>G (MSH6)	ENSP00000234420.4:p.Thr1243Ala
ENST00000405808.5:c.169+1911T>C (FBXO11)	ENSP00000385127.1:n.169+1911T>C
ENST00000434234.5:c.*124+1710T>C (FBXO11)	ENSP00000402692.1:n.*124+1710T>C
ENST00000445503.5:c.*3074A>G (MSH6)	ENSP00000405294.1:n.*3074A>G
ENST00000538136.1:c.2821A>G (MSH6)	ENSP00000438580.1:p.Thr941Ala
ENST00000540021.5:c.3337A>G (MSH6)	ENSP00000446475.1:p.Thr1113Ala
ENST00000614496.4:c.2821A>G (MSH6)	ENSP00000477844.1:p.Thr941Ala
ENST00000622629.4:c.631A>G (MSH6)	ENSP00000482078.1:p.Thr211Ala
NM_000179.2:c.3727A>G , LRG_219t1:c.3727A>G (MSH6)	NP_000170.1:p.Thr1243Ala
NM_001281492.1:c.3337A>G (MSH6)	NP_001268421.1:p.Thr1113Ala
NM_001281493.1:c.2821A>G (MSH6)	NP_001268422.1:p.Thr941Ala
NM_001281494.1:c.2821A>G (MSH6)	NP_001268423.1:p.Thr941Ala
XM_005264271.1:c.3430A>G (MSH6)	XP_005264328.1:p.Thr1144Ala
XM_011532798.1:c.3544A>G (MSH6)	XP_011531100.1:p.Thr1182Ala
XM_011532799.1:c.3430A>G (MSH6)	XP_011531101.1:p.Thr1144Ala
XM_011532800.1:c.3430A>G (MSH6)	XP_011531102.1:p.Thr1144Ala
XM_024452819.1:c.3727A>G (MSH6)	XP_024308587.1:p.Thr1243Ala
XM_024452820.1:c.3544A>G (MSH6)	XP_024308588.1:p.Thr1182Ala
XM_024452821.1:c.3430A>G (MSH6)	XP_024308589.1:p.Thr1144Ala
XM_024452822.1:c.2821A>G (MSH6)	XP_024308590.1:p.Thr941Ala
NM_000179.3:c.3727A>G (MSH6) MANE Select	NP_000170.1:p.Thr1243Ala
NM_001281492.2:c.3337A>G (MSH6)	NP_001268421.1:p.Thr1113Ala
NM_001281493.2:c.2821A>G (MSH6)	NP_001268422.1:p.Thr941Ala
NM_001281494.2:c.2821A>G (MSH6)	NP_001268423.1:p.Thr941Ala