Canonical Allele Identifier: CA16611178

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 416146
• ClinVar RCV Id: RCV001404559 ; RCV002356748
• dbSNP Id: rs1060504744
• MyVariant Identifiers: chr2:g.48033671T>C (hg19) ; chr2:g.47806532T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806532T>C , CM000664.2:g.47806532T>C	GRCh38
NC_000002.11:g.48033671T>C , CM000664.1:g.48033671T>C	GRCh37
NC_000002.10:g.47887175T>C	NCBI36
NG_007111.1:g.28386T>C , LRG_219:g.28386T>C
NG_008397.1:g.104144A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3585T>C (MSH6)	ENSP00000406248.2:p.Cys1195=
ENST00000420813.6:c.3585T>C (MSH6)	ENSP00000390382.2:p.Cys1195=
ENST00000455383.6:c.3585T>C (MSH6)	ENSP00000397484.2:p.Cys1195=
ENST00000700004.2:c.3498T>C (MSH6)	ENSP00000514752.2:p.Cys1166=
ENST00000699999.1:n.4556T>C (MSH6)
ENST00000700000.1:c.2316T>C (MSH6)	ENSP00000514749.1:p.Cys772=
ENST00000700002.1:c.3888T>C (MSH6)	ENSP00000514750.1:p.Cys1296=
ENST00000700003.1:c.1337T>C (MSH6)	ENSP00000514751.1:n.1337T>C
ENST00000700004.1:c.2655T>C (MSH6)	ENSP00000514752.1:p.Cys885=
ENST00000700005.1:n.2733T>C (MSH6)
ENST00000700006.1:n.5040T>C (MSH6)
ENST00000700007.1:n.2477T>C (MSH6)
ENST00000700008.1:n.2144T>C (MSH6)
ENST00000700009.1:n.2546T>C (MSH6)
ENST00000700010.1:n.1291T>C (MSH6)
ENST00000700011.1:n.3176T>C (MSH6)
ENST00000682451.1:n.4216A>G (FBXO11)
ENST00000684712.1:n.4478A>G (FBXO11)
ENST00000234420.11:c.3882T>C (MSH6) MANE Select	ENSP00000234420.5:p.Cys1294=
ENST00000540021.6:c.3492T>C (MSH6)	ENSP00000446475.1:p.Cys1164=
ENST00000652107.1:c.3585T>C (MSH6)	ENSP00000498629.1:p.Cys1195=
ENST00000673637.1:c.3585T>C (MSH6)	ENSP00000501310.1:p.Cys1195=
ENST00000234420.9:c.3882T>C (MSH6)	ENSP00000234420.4:p.Cys1294=
ENST00000405808.5:c.169+1663A>G (FBXO11)	ENSP00000385127.1:n.169+1663A>G
ENST00000434234.5:c.*124+1462A>G (FBXO11)	ENSP00000402692.1:n.*124+1462A>G
ENST00000445503.5:c.*3229T>C (MSH6)	ENSP00000405294.1:n.*3229T>C
ENST00000538136.1:c.2976T>C (MSH6)	ENSP00000438580.1:p.Cys992=
ENST00000540021.5:c.3492T>C (MSH6)	ENSP00000446475.1:p.Cys1164=
ENST00000614496.4:c.2976T>C (MSH6)	ENSP00000477844.1:p.Cys992=
ENST00000622629.4:c.783T>C (MSH6)	ENSP00000482078.1:p.Cys261=
NM_000179.2:c.3882T>C , LRG_219t1:c.3882T>C (MSH6)	NP_000170.1:p.Cys1294=
NM_001281492.1:c.3492T>C (MSH6)	NP_001268421.1:p.Cys1164=
NM_001281493.1:c.2976T>C (MSH6)	NP_001268422.1:p.Cys992=
NM_001281494.1:c.2976T>C (MSH6)	NP_001268423.1:p.Cys992=
XM_005264271.1:c.3585T>C (MSH6)	XP_005264328.1:p.Cys1195=
XM_011532798.1:c.3699T>C (MSH6)	XP_011531100.1:p.Cys1233=
XM_011532799.1:c.3585T>C (MSH6)	XP_011531101.1:p.Cys1195=
XM_011532800.1:c.3585T>C (MSH6)	XP_011531102.1:p.Cys1195=
XM_024452819.1:c.3975T>C (MSH6)	XP_024308587.1:p.Cys1325=
XM_024452820.1:c.3792T>C (MSH6)	XP_024308588.1:p.Cys1264=
XM_024452821.1:c.3678T>C (MSH6)	XP_024308589.1:p.Cys1226=
XM_024452822.1:c.3069T>C (MSH6)	XP_024308590.1:p.Cys1023=
NM_000179.3:c.3882T>C (MSH6) MANE Select	NP_000170.1:p.Cys1294=
NM_001281492.2:c.3492T>C (MSH6)	NP_001268421.1:p.Cys1164=
NM_001281493.2:c.2976T>C (MSH6)	NP_001268422.1:p.Cys992=
NM_001281494.2:c.2976T>C (MSH6)	NP_001268423.1:p.Cys992=