Canonical Allele Identifier: CA10578124

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 233859
• ClinVar RCV Id: RCV000219717 ; RCV000792117
• dbSNP Id: rs876660688
• gnomAD v2: 2-48028097-A-G
• gnomAD v4: 2-47800958-A-G
• MyVariant Identifiers: chr2:g.48028097A>G (hg19) ; chr2:g.47800958A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800958A>G , CM000664.2:g.47800958A>G	GRCh38
NC_000002.11:g.48028097A>G , CM000664.1:g.48028097A>G	GRCh37
NC_000002.10:g.47881601A>G	NCBI36
NG_007111.1:g.22812A>G , LRG_219:g.22812A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.2678A>G (MSH6)	ENSP00000406248.2:p.Glu893Gly
ENST00000420813.6:c.2678A>G (MSH6)	ENSP00000390382.2:p.Glu893Gly
ENST00000455383.6:c.2678A>G (MSH6)	ENSP00000397484.2:p.Glu893Gly
ENST00000700004.2:c.2975A>G (MSH6)	ENSP00000514752.2:p.Glu992Gly
ENST00000699999.1:n.3059A>G (MSH6)
ENST00000700000.1:c.1606+1369A>G (MSH6)	ENSP00000514749.1:n.1606+1369A>G
ENST00000700002.1:c.2981A>G (MSH6)	ENSP00000514750.1:p.Glu994Gly
ENST00000700003.1:c.628-2462A>G (MSH6)	ENSP00000514751.1:n.628-2462A>G
ENST00000700004.1:c.2132A>G (MSH6)	ENSP00000514752.1:p.Glu711Gly
ENST00000234420.11:c.2975A>G (MSH6) MANE Select	ENSP00000234420.5:p.Glu992Gly
ENST00000540021.6:c.2585A>G (MSH6)	ENSP00000446475.1:p.Glu862Gly
ENST00000652107.1:c.2678A>G (MSH6)	ENSP00000498629.1:p.Glu893Gly
ENST00000673637.1:c.2678A>G (MSH6)	ENSP00000501310.1:p.Glu893Gly
ENST00000234420.9:c.2975A>G (MSH6)	ENSP00000234420.4:p.Glu992Gly
ENST00000405808.5:c.169+7237T>C (FBXO11)	ENSP00000385127.1:n.169+7237T>C
ENST00000434234.5:c.*124+7036T>C (FBXO11)	ENSP00000402692.1:n.*124+7036T>C
ENST00000445503.5:c.*2322A>G (MSH6)	ENSP00000405294.1:n.*2322A>G
ENST00000538136.1:c.2069A>G (MSH6)	ENSP00000438580.1:p.Glu690Gly
ENST00000540021.5:c.2585A>G (MSH6)	ENSP00000446475.1:p.Glu862Gly
ENST00000614496.4:c.2069A>G (MSH6)	ENSP00000477844.1:p.Glu690Gly
ENST00000616033.4:c.2972A>G (MSH6)	ENSP00000480261.1:p.Glu991Gly
ENST00000622629.4:c.-122A>G (MSH6)	ENSP00000482078.1:n.-122A>G
NM_000179.2:c.2975A>G , LRG_219t1:c.2975A>G (MSH6)	NP_000170.1:p.Glu992Gly
NM_001281492.1:c.2585A>G (MSH6)	NP_001268421.1:p.Glu862Gly
NM_001281493.1:c.2069A>G (MSH6)	NP_001268422.1:p.Glu690Gly
NM_001281494.1:c.2069A>G (MSH6)	NP_001268423.1:p.Glu690Gly
XM_005264271.1:c.2678A>G (MSH6)	XP_005264328.1:p.Glu893Gly
XM_011532798.1:c.2792A>G (MSH6)	XP_011531100.1:p.Glu931Gly
XM_011532799.1:c.2678A>G (MSH6)	XP_011531101.1:p.Glu893Gly
XM_011532800.1:c.2678A>G (MSH6)	XP_011531102.1:p.Glu893Gly
XM_024452819.1:c.2975A>G (MSH6)	XP_024308587.1:p.Glu992Gly
XM_024452820.1:c.2792A>G (MSH6)	XP_024308588.1:p.Glu931Gly
XM_024452821.1:c.2678A>G (MSH6)	XP_024308589.1:p.Glu893Gly
XM_024452822.1:c.2069A>G (MSH6)	XP_024308590.1:p.Glu690Gly
NM_000179.3:c.2975A>G (MSH6) MANE Select	NP_000170.1:p.Glu992Gly
NM_001281492.2:c.2585A>G (MSH6)	NP_001268421.1:p.Glu862Gly
NM_001281493.2:c.2069A>G (MSH6)	NP_001268422.1:p.Glu690Gly
NM_001281494.2:c.2069A>G (MSH6)	NP_001268423.1:p.Glu690Gly