Canonical Allele Identifier: CA346761118

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 455284
• ClinVar RCV Id: RCV000529460
• dbSNP Id: rs761643896
• MyVariant Identifiers: chr2:g.48033463A>G (hg19) ; chr2:g.47806324A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806324A>G , CM000664.2:g.47806324A>G	GRCh38
NC_000002.11:g.48033463A>G , CM000664.1:g.48033463A>G	GRCh37
NC_000002.10:g.47886967A>G	NCBI36
NG_007111.1:g.28178A>G , LRG_219:g.28178A>G
NG_008397.1:g.104352T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3470A>G (MSH6)	ENSP00000406248.2:p.Tyr1157Cys
ENST00000420813.6:c.3470A>G (MSH6)	ENSP00000390382.2:p.Tyr1157Cys
ENST00000455383.6:c.3470A>G (MSH6)	ENSP00000397484.2:p.Tyr1157Cys
ENST00000700004.2:c.3383A>G (MSH6)	ENSP00000514752.2:p.Tyr1128Cys
ENST00000699999.1:n.4441A>G (MSH6)
ENST00000700000.1:c.2201A>G (MSH6)	ENSP00000514749.1:p.Tyr734Cys
ENST00000700002.1:c.3773A>G (MSH6)	ENSP00000514750.1:p.Tyr1258Cys
ENST00000700003.1:c.1222A>G (MSH6)	ENSP00000514751.1:n.1222A>G
ENST00000700004.1:c.2540A>G (MSH6)	ENSP00000514752.1:p.Tyr847Cys
ENST00000700005.1:n.2618A>G (MSH6)
ENST00000700006.1:n.4925A>G (MSH6)
ENST00000700007.1:n.2362A>G (MSH6)
ENST00000700008.1:n.1936A>G (MSH6)
ENST00000700009.1:n.2431A>G (MSH6)
ENST00000700010.1:n.1176A>G (MSH6)
ENST00000700011.1:n.3061A>G (MSH6)
ENST00000682451.1:n.4424T>C (FBXO11)
ENST00000684712.1:n.4686T>C (FBXO11)
ENST00000234420.11:c.3767A>G (MSH6) MANE Select	ENSP00000234420.5:p.Tyr1256Cys
ENST00000540021.6:c.3377A>G (MSH6)	ENSP00000446475.1:p.Tyr1126Cys
ENST00000652107.1:c.3470A>G (MSH6)	ENSP00000498629.1:p.Tyr1157Cys
ENST00000673637.1:c.3470A>G (MSH6)	ENSP00000501310.1:p.Tyr1157Cys
ENST00000234420.9:c.3767A>G (MSH6)	ENSP00000234420.4:p.Tyr1256Cys
ENST00000405808.5:c.169+1871T>C (FBXO11)	ENSP00000385127.1:n.169+1871T>C
ENST00000434234.5:c.*124+1670T>C (FBXO11)	ENSP00000402692.1:n.*124+1670T>C
ENST00000445503.5:c.*3114A>G (MSH6)	ENSP00000405294.1:n.*3114A>G
ENST00000538136.1:c.2861A>G (MSH6)	ENSP00000438580.1:p.Tyr954Cys
ENST00000540021.5:c.3377A>G (MSH6)	ENSP00000446475.1:p.Tyr1126Cys
ENST00000614496.4:c.2861A>G (MSH6)	ENSP00000477844.1:p.Tyr954Cys
ENST00000622629.4:c.669A>G (MSH6)	ENSP00000482078.1:p.Leu223=
NM_000179.2:c.3767A>G , LRG_219t1:c.3767A>G (MSH6)	NP_000170.1:p.Tyr1256Cys
NM_001281492.1:c.3377A>G (MSH6)	NP_001268421.1:p.Tyr1126Cys
NM_001281493.1:c.2861A>G (MSH6)	NP_001268422.1:p.Tyr954Cys
NM_001281494.1:c.2861A>G (MSH6)	NP_001268423.1:p.Tyr954Cys
XM_005264271.1:c.3470A>G (MSH6)	XP_005264328.1:p.Tyr1157Cys
XM_011532798.1:c.3584A>G (MSH6)	XP_011531100.1:p.Tyr1195Cys
XM_011532799.1:c.3470A>G (MSH6)	XP_011531101.1:p.Tyr1157Cys
XM_011532800.1:c.3470A>G (MSH6)	XP_011531102.1:p.Tyr1157Cys
XM_024452819.1:c.3767A>G (MSH6)	XP_024308587.1:p.Tyr1256Cys
XM_024452820.1:c.3584A>G (MSH6)	XP_024308588.1:p.Tyr1195Cys
XM_024452821.1:c.3470A>G (MSH6)	XP_024308589.1:p.Tyr1157Cys
XM_024452822.1:c.2861A>G (MSH6)	XP_024308590.1:p.Tyr954Cys
NM_000179.3:c.3767A>G (MSH6) MANE Select	NP_000170.1:p.Tyr1256Cys
NM_001281492.2:c.3377A>G (MSH6)	NP_001268421.1:p.Tyr1126Cys
NM_001281493.2:c.2861A>G (MSH6)	NP_001268422.1:p.Tyr954Cys
NM_001281494.2:c.2861A>G (MSH6)	NP_001268423.1:p.Tyr954Cys