Canonical Allele Identifier: CA016429

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89565
• ClinVar RCV Id: RCV000506023 ; RCV000803732 ; RCV001026537 ; RCV003997103
• dbSNP Id: rs587779321
• ExAC: 2:48025875 A / G
• gnomAD v2: 2-48025875-A-G
• gnomAD v4: 2-47798736-A-G
• MyVariant Identifiers: chr2:g.48025875A>G (hg19) ; chr2:g.47798736A>G (hg38)
• PubMed: PMID:26333163

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798736A>G , CM000664.2:g.47798736A>G	GRCh38
NC_000002.11:g.48025875A>G , CM000664.1:g.48025875A>G	GRCh37
NC_000002.10:g.47879379A>G	NCBI36
NG_007111.1:g.20590A>G , LRG_219:g.20590A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.456A>G (MSH6)	ENSP00000406248.2:p.Ile152Met
ENST00000420813.6:c.456A>G (MSH6)	ENSP00000390382.2:p.Ile152Met
ENST00000455383.6:c.456A>G (MSH6)	ENSP00000397484.2:p.Ile152Met
ENST00000700004.2:c.753A>G (MSH6)	ENSP00000514752.2:p.Ile251Met
ENST00000699999.1:n.837A>G (MSH6)
ENST00000700000.1:c.753A>G (MSH6)	ENSP00000514749.1:p.Ile251Met
ENST00000700002.1:c.759A>G (MSH6)	ENSP00000514750.1:p.Ile253Met
ENST00000700003.1:c.627+2673A>G (MSH6)	ENSP00000514751.1:n.627+2673A>G
ENST00000234420.11:c.753A>G (MSH6) MANE Select	ENSP00000234420.5:p.Ile251Met
ENST00000540021.6:c.363A>G (MSH6)	ENSP00000446475.1:p.Ile121Met
ENST00000652107.1:c.456A>G (MSH6)	ENSP00000498629.1:p.Ile152Met
ENST00000673637.1:c.456A>G (MSH6)	ENSP00000501310.1:p.Ile152Met
ENST00000673922.1:n.475A>G (MSH6)
ENST00000234420.9:c.753A>G (MSH6)	ENSP00000234420.4:p.Ile251Met
ENST00000405808.5:c.170-9296T>C (FBXO11)	ENSP00000385127.1:n.170-9296T>C
ENST00000434234.5:c.*124+9258T>C (FBXO11)	ENSP00000402692.1:n.*124+9258T>C
ENST00000445503.5:c.*100A>G (MSH6)	ENSP00000405294.1:n.*100A>G
ENST00000456246.1:c.*241A>G (MSH6)	ENSP00000410570.1:n.*241A>G
ENST00000538136.1:c.-154A>G (MSH6)	ENSP00000438580.1:n.-154A>G
ENST00000540021.5:c.363A>G (MSH6)	ENSP00000446475.1:p.Ile121Met
ENST00000614496.4:c.-154A>G (MSH6)	ENSP00000477844.1:n.-154A>G
ENST00000616033.4:c.750A>G (MSH6)	ENSP00000480261.1:p.Ile250Met
ENST00000622629.4:c.-2344A>G (MSH6)	ENSP00000482078.1:n.-2344A>G
NM_000179.2:c.753A>G , LRG_219t1:c.753A>G (MSH6)	NP_000170.1:p.Ile251Met
NM_001281492.1:c.363A>G (MSH6)	NP_001268421.1:p.Ile121Met
NM_001281493.1:c.-154A>G (MSH6)	NP_001268422.1:n.-154A>G
NM_001281494.1:c.-154A>G (MSH6)	NP_001268423.1:n.-154A>G
XM_005264271.1:c.456A>G (MSH6)	XP_005264328.1:p.Ile152Met
XM_011532798.1:c.570A>G (MSH6)	XP_011531100.1:p.Ile190Met
XM_011532799.1:c.456A>G (MSH6)	XP_011531101.1:p.Ile152Met
XM_011532800.1:c.456A>G (MSH6)	XP_011531102.1:p.Ile152Met
XM_024452819.1:c.753A>G (MSH6)	XP_024308587.1:p.Ile251Met
XM_024452820.1:c.570A>G (MSH6)	XP_024308588.1:p.Ile190Met
XM_024452821.1:c.456A>G (MSH6)	XP_024308589.1:p.Ile152Met
XM_024452822.1:c.-154A>G (MSH6)	XP_024308590.1:n.-154A>G
NM_000179.3:c.753A>G (MSH6) MANE Select	NP_000170.1:p.Ile251Met
NM_001281492.2:c.363A>G (MSH6)	NP_001268421.1:p.Ile121Met
NM_001281493.2:c.-154A>G (MSH6)	NP_001268422.1:n.-154A>G
NM_001281494.2:c.-154A>G (MSH6)	NP_001268423.1:n.-154A>G