Canonical Allele Identifier: CA346760216

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 823881
• ClinVar RCV Id: RCV001020518
• dbSNP Id: rs768759155
• MyVariant Identifiers: chr2:g.48032132T>G (hg19) ; chr2:g.47804993T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47804993T>G , CM000664.2:g.47804993T>G	GRCh38
NC_000002.11:g.48032132T>G , CM000664.1:g.48032132T>G	GRCh37
NC_000002.10:g.47885636T>G	NCBI36
NG_007111.1:g.26847T>G , LRG_219:g.26847T>G
NG_008397.1:g.105683A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3225T>G (MSH6)	ENSP00000406248.2:p.Phe1075Leu
ENST00000420813.6:c.3225T>G (MSH6)	ENSP00000390382.2:p.Phe1075Leu
ENST00000455383.6:c.3225T>G (MSH6)	ENSP00000397484.2:p.Phe1075Leu
ENST00000700004.2:c.3173-625T>G (MSH6)	ENSP00000514752.2:n.3173-625T>G
ENST00000699999.1:n.3606T>G (MSH6)
ENST00000700000.1:c.1956T>G (MSH6)	ENSP00000514749.1:p.Phe652Leu
ENST00000700002.1:c.3528T>G (MSH6)	ENSP00000514750.1:p.Phe1176Leu
ENST00000700003.1:c.977T>G (MSH6)	ENSP00000514751.1:n.977T>G
ENST00000700004.1:c.2330-625T>G (MSH6)	ENSP00000514752.1:n.2330-625T>G
ENST00000700005.1:n.2373T>G (MSH6)
ENST00000700006.1:n.3594T>G (MSH6)
ENST00000700007.1:n.1527T>G (MSH6)
ENST00000700008.1:n.1101T>G (MSH6)
ENST00000700009.1:n.1100T>G (MSH6)
ENST00000700010.1:n.931T>G (MSH6)
ENST00000700011.1:n.2226T>G (MSH6)
ENST00000234420.11:c.3522T>G (MSH6) MANE Select	ENSP00000234420.5:p.Phe1174Leu
ENST00000540021.6:c.3132T>G (MSH6)	ENSP00000446475.1:p.Phe1044Leu
ENST00000652107.1:c.3225T>G (MSH6)	ENSP00000498629.1:p.Phe1075Leu
ENST00000673637.1:c.3225T>G (MSH6)	ENSP00000501310.1:p.Phe1075Leu
ENST00000234420.9:c.3522T>G (MSH6)	ENSP00000234420.4:p.Phe1174Leu
ENST00000405808.5:c.169+3202A>C (FBXO11)	ENSP00000385127.1:n.169+3202A>C
ENST00000434234.5:c.*124+3001A>C (FBXO11)	ENSP00000402692.1:n.*124+3001A>C
ENST00000445503.5:c.*2869T>G (MSH6)	ENSP00000405294.1:n.*2869T>G
ENST00000538136.1:c.2616T>G (MSH6)	ENSP00000438580.1:p.Phe872Leu
ENST00000540021.5:c.3132T>G (MSH6)	ENSP00000446475.1:p.Phe1044Leu
ENST00000614496.4:c.2616T>G (MSH6)	ENSP00000477844.1:p.Phe872Leu
ENST00000622629.4:c.426T>G (MSH6)	ENSP00000482078.1:p.Phe142Leu
NM_000179.2:c.3522T>G , LRG_219t1:c.3522T>G (MSH6)	NP_000170.1:p.Phe1174Leu
NM_001281492.1:c.3132T>G (MSH6)	NP_001268421.1:p.Phe1044Leu
NM_001281493.1:c.2616T>G (MSH6)	NP_001268422.1:p.Phe872Leu
NM_001281494.1:c.2616T>G (MSH6)	NP_001268423.1:p.Phe872Leu
XM_005264271.1:c.3225T>G (MSH6)	XP_005264328.1:p.Phe1075Leu
XM_011532798.1:c.3339T>G (MSH6)	XP_011531100.1:p.Phe1113Leu
XM_011532799.1:c.3225T>G (MSH6)	XP_011531101.1:p.Phe1075Leu
XM_011532800.1:c.3225T>G (MSH6)	XP_011531102.1:p.Phe1075Leu
XM_024452819.1:c.3522T>G (MSH6)	XP_024308587.1:p.Phe1174Leu
XM_024452820.1:c.3339T>G (MSH6)	XP_024308588.1:p.Phe1113Leu
XM_024452821.1:c.3225T>G (MSH6)	XP_024308589.1:p.Phe1075Leu
XM_024452822.1:c.2616T>G (MSH6)	XP_024308590.1:p.Phe872Leu
NM_000179.3:c.3522T>G (MSH6) MANE Select	NP_000170.1:p.Phe1174Leu
NM_001281492.2:c.3132T>G (MSH6)	NP_001268421.1:p.Phe1044Leu
NM_001281493.2:c.2616T>G (MSH6)	NP_001268422.1:p.Phe872Leu
NM_001281494.2:c.2616T>G (MSH6)	NP_001268423.1:p.Phe872Leu