Canonical Allele Identifier: CA346761388

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 824337
• ClinVar RCV Id: RCV001021354
• dbSNP Id: rs1553333526
• MyVariant Identifiers: chr2:g.48033676A>C (hg19) ; chr2:g.47806537A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806537A>C , CM000664.2:g.47806537A>C	GRCh38
NC_000002.11:g.48033676A>C , CM000664.1:g.48033676A>C	GRCh37
NC_000002.10:g.47887180A>C	NCBI36
NG_007111.1:g.28391A>C , LRG_219:g.28391A>C
NG_008397.1:g.104139T>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3590A>C (MSH6)	ENSP00000406248.2:p.Lys1197Thr
ENST00000420813.6:c.3590A>C (MSH6)	ENSP00000390382.2:p.Lys1197Thr
ENST00000455383.6:c.3590A>C (MSH6)	ENSP00000397484.2:p.Lys1197Thr
ENST00000700004.2:c.3503A>C (MSH6)	ENSP00000514752.2:p.Lys1168Thr
ENST00000699999.1:n.4561A>C (MSH6)
ENST00000700000.1:c.2321A>C (MSH6)	ENSP00000514749.1:p.Lys774Thr
ENST00000700002.1:c.3893A>C (MSH6)	ENSP00000514750.1:p.Lys1298Thr
ENST00000700003.1:c.1342A>C (MSH6)	ENSP00000514751.1:n.1342A>C
ENST00000700004.1:c.2660A>C (MSH6)	ENSP00000514752.1:p.Lys887Thr
ENST00000700005.1:n.2738A>C (MSH6)
ENST00000700006.1:n.5045A>C (MSH6)
ENST00000700007.1:n.2482A>C (MSH6)
ENST00000700008.1:n.2149A>C (MSH6)
ENST00000700009.1:n.2551A>C (MSH6)
ENST00000700010.1:n.1296A>C (MSH6)
ENST00000700011.1:n.3181A>C (MSH6)
ENST00000682451.1:n.4211T>G (FBXO11)
ENST00000684712.1:n.4473T>G (FBXO11)
ENST00000234420.11:c.3887A>C (MSH6) MANE Select	ENSP00000234420.5:p.Lys1296Thr
ENST00000540021.6:c.3497A>C (MSH6)	ENSP00000446475.1:p.Lys1166Thr
ENST00000652107.1:c.3590A>C (MSH6)	ENSP00000498629.1:p.Lys1197Thr
ENST00000673637.1:c.3590A>C (MSH6)	ENSP00000501310.1:p.Lys1197Thr
ENST00000234420.9:c.3887A>C (MSH6)	ENSP00000234420.4:p.Lys1296Thr
ENST00000405808.5:c.169+1658T>G (FBXO11)	ENSP00000385127.1:n.169+1658T>G
ENST00000434234.5:c.*124+1457T>G (FBXO11)	ENSP00000402692.1:n.*124+1457T>G
ENST00000445503.5:c.*3234A>C (MSH6)	ENSP00000405294.1:n.*3234A>C
ENST00000538136.1:c.2981A>C (MSH6)	ENSP00000438580.1:p.Lys994Thr
ENST00000540021.5:c.3497A>C (MSH6)	ENSP00000446475.1:p.Lys1166Thr
ENST00000614496.4:c.2981A>C (MSH6)	ENSP00000477844.1:p.Lys994Thr
ENST00000622629.4:c.788A>C (MSH6)	ENSP00000482078.1:p.Lys263Thr
NM_000179.2:c.3887A>C , LRG_219t1:c.3887A>C (MSH6)	NP_000170.1:p.Lys1296Thr
NM_001281492.1:c.3497A>C (MSH6)	NP_001268421.1:p.Lys1166Thr
NM_001281493.1:c.2981A>C (MSH6)	NP_001268422.1:p.Lys994Thr
NM_001281494.1:c.2981A>C (MSH6)	NP_001268423.1:p.Lys994Thr
XM_005264271.1:c.3590A>C (MSH6)	XP_005264328.1:p.Lys1197Thr
XM_011532798.1:c.3704A>C (MSH6)	XP_011531100.1:p.Lys1235Thr
XM_011532799.1:c.3590A>C (MSH6)	XP_011531101.1:p.Lys1197Thr
XM_011532800.1:c.3590A>C (MSH6)	XP_011531102.1:p.Lys1197Thr
XM_024452819.1:c.3980A>C (MSH6)	XP_024308587.1:p.Lys1327Thr
XM_024452820.1:c.3797A>C (MSH6)	XP_024308588.1:p.Lys1266Thr
XM_024452821.1:c.3683A>C (MSH6)	XP_024308589.1:p.Lys1228Thr
XM_024452822.1:c.3074A>C (MSH6)	XP_024308590.1:p.Lys1025Thr
NM_000179.3:c.3887A>C (MSH6) MANE Select	NP_000170.1:p.Lys1296Thr
NM_001281492.2:c.3497A>C (MSH6)	NP_001268421.1:p.Lys1166Thr
NM_001281493.2:c.2981A>C (MSH6)	NP_001268422.1:p.Lys994Thr
NM_001281494.2:c.2981A>C (MSH6)	NP_001268423.1:p.Lys994Thr