Canonical Allele Identifier: CA346761737

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1059255
• ClinVar RCV Id: RCV001368498 ; RCV003169882
• dbSNP Id: rs1057521054
• MyVariant Identifiers: chr2:g.48033976C>G (hg19) ; chr2:g.47806837C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806837C>G , CM000664.2:g.47806837C>G	GRCh38
NC_000002.11:g.48033976C>G , CM000664.1:g.48033976C>G	GRCh37
NC_000002.10:g.47887480C>G	NCBI36
NG_007111.1:g.28691C>G , LRG_219:g.28691C>G
NG_008397.1:g.103839G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3763C>G (MSH6)	ENSP00000406248.2:p.Leu1255Val
ENST00000420813.6:c.3763C>G (MSH6)	ENSP00000390382.2:p.Leu1255Val
ENST00000455383.6:c.3763C>G (MSH6)	ENSP00000397484.2:p.Leu1255Val
ENST00000700004.2:c.3676C>G (MSH6)	ENSP00000514752.2:p.Leu1226Val
ENST00000699999.1:n.4734C>G (MSH6)
ENST00000700000.1:c.2494C>G (MSH6)	ENSP00000514749.1:p.Leu832Val
ENST00000700002.1:c.4066C>G (MSH6)	ENSP00000514750.1:p.Leu1356Val
ENST00000700003.1:c.1515C>G (MSH6)	ENSP00000514751.1:n.1515C>G
ENST00000700004.1:c.2833C>G (MSH6)	ENSP00000514752.1:p.Leu945Val
ENST00000700005.1:n.3038C>G (MSH6)
ENST00000700007.1:n.2655C>G (MSH6)
ENST00000700008.1:n.2322C>G (MSH6)
ENST00000700009.1:n.2724C>G (MSH6)
ENST00000700010.1:n.1469C>G (MSH6)
ENST00000700011.1:n.3354C>G (MSH6)
ENST00000682451.1:n.3911G>C (FBXO11)
ENST00000684712.1:n.4173G>C (FBXO11)
ENST00000234420.11:c.4060C>G (MSH6) MANE Select	ENSP00000234420.5:p.Leu1354Val
ENST00000540021.6:c.3670C>G (MSH6)	ENSP00000446475.1:p.Leu1224Val
ENST00000652107.1:c.3763C>G (MSH6)	ENSP00000498629.1:p.Leu1255Val
ENST00000673637.1:c.3763C>G (MSH6)	ENSP00000501310.1:p.Leu1255Val
ENST00000234420.9:c.4060C>G (MSH6)	ENSP00000234420.4:p.Leu1354Val
ENST00000405808.5:c.169+1358G>C (FBXO11)	ENSP00000385127.1:n.169+1358G>C
ENST00000434234.5:c.*124+1157G>C (FBXO11)	ENSP00000402692.1:n.*124+1157G>C
ENST00000445503.5:c.*3407C>G (MSH6)	ENSP00000405294.1:n.*3407C>G
ENST00000465204.5:n.3073G>C (FBXO11)
ENST00000538136.1:c.3154C>G (MSH6)	ENSP00000438580.1:p.Leu1052Val
ENST00000540021.5:c.3670C>G (MSH6)	ENSP00000446475.1:p.Leu1224Val
ENST00000614496.4:c.3154C>G (MSH6)	ENSP00000477844.1:p.Leu1052Val
ENST00000622629.4:c.961C>G (MSH6)	ENSP00000482078.1:p.Leu321Val
NM_000179.2:c.4060C>G , LRG_219t1:c.4060C>G (MSH6)	NP_000170.1:p.Leu1354Val
NM_001281492.1:c.3670C>G (MSH6)	NP_001268421.1:p.Leu1224Val
NM_001281493.1:c.3154C>G (MSH6)	NP_001268422.1:p.Leu1052Val
NM_001281494.1:c.3154C>G (MSH6)	NP_001268423.1:p.Leu1052Val
XM_005264271.1:c.3763C>G (MSH6)	XP_005264328.1:p.Leu1255Val
XM_011532798.1:c.3877C>G (MSH6)	XP_011531100.1:p.Leu1293Val
XM_011532799.1:c.3763C>G (MSH6)	XP_011531101.1:p.Leu1255Val
XM_011532800.1:c.3763C>G (MSH6)	XP_011531102.1:p.Leu1255Val
XM_024452819.1:c.4153C>G (MSH6)	XP_024308587.1:p.Leu1385Val
XM_024452820.1:c.3970C>G (MSH6)	XP_024308588.1:p.Leu1324Val
XM_024452821.1:c.3856C>G (MSH6)	XP_024308589.1:p.Leu1286Val
XM_024452822.1:c.3247C>G (MSH6)	XP_024308590.1:p.Leu1083Val
NM_000179.3:c.4060C>G (MSH6) MANE Select	NP_000170.1:p.Leu1354Val
NM_001281492.2:c.3670C>G (MSH6)	NP_001268421.1:p.Leu1224Val
NM_001281493.2:c.3154C>G (MSH6)	NP_001268422.1:p.Leu1052Val
NM_001281494.2:c.3154C>G (MSH6)	NP_001268423.1:p.Leu1052Val