Canonical Allele Identifier: CA067316

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 627653
• ClinVar RCV Id: RCV000771152 ; RCV001712748 ; RCV001355760 ; RCV004535897
• dbSNP Id: rs757708396
• ExAC: 2:48034010 T / C
• gnomAD v2: 2-48034010-T-C
• gnomAD v3: 2-47806871-T-C
• gnomAD v4: 2-47806871-T-C
• MyVariant Identifiers: chr2:g.48034010T>C (hg19) ; chr2:g.47806871T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806871T>C , CM000664.2:g.47806871T>C	GRCh38
NC_000002.11:g.48034010T>C , CM000664.1:g.48034010T>C	GRCh37
NC_000002.10:g.47887514T>C	NCBI36
NG_007111.1:g.28725T>C , LRG_219:g.28725T>C
NG_008397.1:g.103805A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.*11T>C (MSH6)	ENSP00000406248.2:n.*11T>C
ENST00000420813.6:c.*11T>C (MSH6)	ENSP00000390382.2:n.*11T>C
ENST00000455383.6:c.*11T>C (MSH6)	ENSP00000397484.2:n.*11T>C
ENST00000700004.2:c.*11T>C (MSH6)	ENSP00000514752.2:n.*11T>C
ENST00000699999.1:n.4768T>C (MSH6)
ENST00000700000.1:c.*11T>C (MSH6)	ENSP00000514749.1:n.*11T>C
ENST00000700002.1:c.*11T>C (MSH6)	ENSP00000514750.1:n.*11T>C
ENST00000700003.1:c.1549T>C (MSH6)	ENSP00000514751.1:n.1549T>C
ENST00000700004.1:c.2867T>C (MSH6)	ENSP00000514752.1:n.2867T>C
ENST00000700007.1:n.2689T>C (MSH6)
ENST00000700008.1:n.2356T>C (MSH6)
ENST00000700009.1:n.2758T>C (MSH6)
ENST00000700010.1:n.1503T>C (MSH6)
ENST00000700011.1:n.3388T>C (MSH6)
ENST00000682451.1:n.3877A>G (FBXO11)
ENST00000684712.1:n.4139A>G (FBXO11)
ENST00000234420.11:c.*11T>C (MSH6) MANE Select	ENSP00000234420.5:n.*11T>C
ENST00000540021.6:c.*11T>C (MSH6)	ENSP00000446475.1:n.*11T>C
ENST00000652107.1:c.*11T>C (MSH6)	ENSP00000498629.1:n.*11T>C
ENST00000673637.1:c.*11T>C (MSH6)	ENSP00000501310.1:n.*11T>C
ENST00000234420.9:c.*11T>C (MSH6)	ENSP00000234420.4:n.*11T>C
ENST00000405808.5:c.169+1324A>G (FBXO11)	ENSP00000385127.1:n.169+1324A>G
ENST00000434234.5:c.*124+1123A>G (FBXO11)	ENSP00000402692.1:n.*124+1123A>G
ENST00000445503.5:c.*3441T>C (MSH6)	ENSP00000405294.1:n.*3441T>C
ENST00000465204.5:n.3039A>G (FBXO11)
ENST00000538136.1:c.*11T>C (MSH6)	ENSP00000438580.1:n.*11T>C
ENST00000540021.5:c.*11T>C (MSH6)	ENSP00000446475.1:n.*11T>C
ENST00000614496.4:c.*11T>C (MSH6)	ENSP00000477844.1:n.*11T>C
ENST00000622629.4:c.*11T>C (MSH6)	ENSP00000482078.1:n.*11T>C
NM_000179.2:c.*11T>C , LRG_219t1:c.*11T>C (MSH6)	NP_000170.1:n.*11T>C
NM_001281492.1:c.*11T>C (MSH6)	NP_001268421.1:n.*11T>C
NM_001281493.1:c.*11T>C (MSH6)	NP_001268422.1:n.*11T>C
NM_001281494.1:c.*11T>C (MSH6)	NP_001268423.1:n.*11T>C
XM_005264271.1:c.*11T>C (MSH6)	XP_005264328.1:n.*11T>C
XM_011532798.1:c.*11T>C (MSH6)	XP_011531100.1:n.*11T>C
XM_011532799.1:c.*11T>C (MSH6)	XP_011531101.1:n.*11T>C
XM_011532800.1:c.*11T>C (MSH6)	XP_011531102.1:n.*11T>C
XM_024452819.1:c.*11T>C (MSH6)	XP_024308587.1:n.*11T>C
XM_024452820.1:c.*11T>C (MSH6)	XP_024308588.1:n.*11T>C
XM_024452821.1:c.*11T>C (MSH6)	XP_024308589.1:n.*11T>C
XM_024452822.1:c.*11T>C (MSH6)	XP_024308590.1:n.*11T>C
NM_000179.3:c.*11T>C (MSH6) MANE Select	NP_000170.1:n.*11T>C
NM_001281492.2:c.*11T>C (MSH6)	NP_001268421.1:n.*11T>C
NM_001281493.2:c.*11T>C (MSH6)	NP_001268422.1:n.*11T>C
NM_001281494.2:c.*11T>C (MSH6)	NP_001268423.1:n.*11T>C