Canonical Allele Identifier: CA426122174

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 824422
• ClinVar RCV Id: RCV001021509 ; RCV001465486
• dbSNP Id: rs1572747685
• MyVariant Identifiers: chr2:g.48033741A>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806602A>C , CM000664.2:g.47806602A>C	GRCh38
NC_000002.11:g.48033741A>C , CM000664.1:g.48033741A>C	GRCh37
NC_000002.10:g.47887245A>C	NCBI36
NG_007111.1:g.28456A>C , LRG_219:g.28456A>C
NG_008397.1:g.104074T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3655A>C (MSH6)	ENSP00000406248.2:p.Arg1219=
ENST00000420813.6:c.3655A>C (MSH6)	ENSP00000390382.2:p.Arg1219=
ENST00000455383.6:c.3655A>C (MSH6)	ENSP00000397484.2:p.Arg1219=
ENST00000700004.2:c.3568A>C (MSH6)	ENSP00000514752.2:p.Arg1190=
ENST00000699999.1:n.4626A>C (MSH6)
ENST00000700000.1:c.2386A>C (MSH6)	ENSP00000514749.1:p.Arg796=
ENST00000700002.1:c.3958A>C (MSH6)	ENSP00000514750.1:p.Arg1320=
ENST00000700003.1:c.1407A>C (MSH6)	ENSP00000514751.1:n.1407A>C
ENST00000700004.1:c.2725A>C (MSH6)	ENSP00000514752.1:p.Arg909=
ENST00000700005.1:n.2803A>C (MSH6)
ENST00000700006.1:n.5110A>C (MSH6)
ENST00000700007.1:n.2547A>C (MSH6)
ENST00000700008.1:n.2214A>C (MSH6)
ENST00000700009.1:n.2616A>C (MSH6)
ENST00000700010.1:n.1361A>C (MSH6)
ENST00000700011.1:n.3246A>C (MSH6)
ENST00000682451.1:n.4146T>G (FBXO11)
ENST00000684712.1:n.4408T>G (FBXO11)
ENST00000234420.11:c.3952A>C (MSH6) MANE Select	ENSP00000234420.5:p.Arg1318=
ENST00000540021.6:c.3562A>C (MSH6)	ENSP00000446475.1:p.Arg1188=
ENST00000652107.1:c.3655A>C (MSH6)	ENSP00000498629.1:p.Arg1219=
ENST00000673637.1:c.3655A>C (MSH6)	ENSP00000501310.1:p.Arg1219=
ENST00000234420.9:c.3952A>C (MSH6)	ENSP00000234420.4:p.Arg1318=
ENST00000405808.5:c.169+1593T>G (FBXO11)	ENSP00000385127.1:n.169+1593T>G
ENST00000434234.5:c.*124+1392T>G (FBXO11)	ENSP00000402692.1:n.*124+1392T>G
ENST00000445503.5:c.*3299A>C (MSH6)	ENSP00000405294.1:n.*3299A>C
ENST00000538136.1:c.3046A>C (MSH6)	ENSP00000438580.1:p.Arg1016=
ENST00000540021.5:c.3562A>C (MSH6)	ENSP00000446475.1:p.Arg1188=
ENST00000614496.4:c.3046A>C (MSH6)	ENSP00000477844.1:p.Arg1016=
ENST00000622629.4:c.853A>C (MSH6)	ENSP00000482078.1:p.Arg285=
NM_000179.2:c.3952A>C , LRG_219t1:c.3952A>C (MSH6)	NP_000170.1:p.Arg1318=
NM_001281492.1:c.3562A>C (MSH6)	NP_001268421.1:p.Arg1188=
NM_001281493.1:c.3046A>C (MSH6)	NP_001268422.1:p.Arg1016=
NM_001281494.1:c.3046A>C (MSH6)	NP_001268423.1:p.Arg1016=
XM_005264271.1:c.3655A>C (MSH6)	XP_005264328.1:p.Arg1219=
XM_011532798.1:c.3769A>C (MSH6)	XP_011531100.1:p.Arg1257=
XM_011532799.1:c.3655A>C (MSH6)	XP_011531101.1:p.Arg1219=
XM_011532800.1:c.3655A>C (MSH6)	XP_011531102.1:p.Arg1219=
XM_024452819.1:c.4045A>C (MSH6)	XP_024308587.1:p.Arg1349=
XM_024452820.1:c.3862A>C (MSH6)	XP_024308588.1:p.Arg1288=
XM_024452821.1:c.3748A>C (MSH6)	XP_024308589.1:p.Arg1250=
XM_024452822.1:c.3139A>C (MSH6)	XP_024308590.1:p.Arg1047=
NM_000179.3:c.3952A>C (MSH6) MANE Select	NP_000170.1:p.Arg1318=
NM_001281492.2:c.3562A>C (MSH6)	NP_001268421.1:p.Arg1188=
NM_001281493.2:c.3046A>C (MSH6)	NP_001268422.1:p.Arg1016=
NM_001281494.2:c.3046A>C (MSH6)	NP_001268423.1:p.Arg1016=