Canonical Allele Identifier: CA346761125

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 947725
• ClinVar RCV Id: RCV001218855 ; RCV002348732
• dbSNP Id: rs1670062923
• MyVariant Identifiers: chr2:g.48033466C>A (hg19) ; chr2:g.47806327C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806327C>A , CM000664.2:g.47806327C>A	GRCh38
NC_000002.11:g.48033466C>A , CM000664.1:g.48033466C>A	GRCh37
NC_000002.10:g.47886970C>A	NCBI36
NG_007111.1:g.28181C>A , LRG_219:g.28181C>A
NG_008397.1:g.104349G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3473C>A (MSH6)	ENSP00000406248.2:p.Ser1158Tyr
ENST00000420813.6:c.3473C>A (MSH6)	ENSP00000390382.2:p.Ser1158Tyr
ENST00000455383.6:c.3473C>A (MSH6)	ENSP00000397484.2:p.Ser1158Tyr
ENST00000700004.2:c.3386C>A (MSH6)	ENSP00000514752.2:p.Ser1129Tyr
ENST00000699999.1:n.4444C>A (MSH6)
ENST00000700000.1:c.2204C>A (MSH6)	ENSP00000514749.1:p.Ser735Tyr
ENST00000700002.1:c.3776C>A (MSH6)	ENSP00000514750.1:p.Ser1259Tyr
ENST00000700003.1:c.1225C>A (MSH6)	ENSP00000514751.1:n.1225C>A
ENST00000700004.1:c.2543C>A (MSH6)	ENSP00000514752.1:p.Ser848Tyr
ENST00000700005.1:n.2621C>A (MSH6)
ENST00000700006.1:n.4928C>A (MSH6)
ENST00000700007.1:n.2365C>A (MSH6)
ENST00000700008.1:n.1939C>A (MSH6)
ENST00000700009.1:n.2434C>A (MSH6)
ENST00000700010.1:n.1179C>A (MSH6)
ENST00000700011.1:n.3064C>A (MSH6)
ENST00000682451.1:n.4421G>T (FBXO11)
ENST00000684712.1:n.4683G>T (FBXO11)
ENST00000234420.11:c.3770C>A (MSH6) MANE Select	ENSP00000234420.5:p.Ser1257Tyr
ENST00000540021.6:c.3380C>A (MSH6)	ENSP00000446475.1:p.Ser1127Tyr
ENST00000652107.1:c.3473C>A (MSH6)	ENSP00000498629.1:p.Ser1158Tyr
ENST00000673637.1:c.3473C>A (MSH6)	ENSP00000501310.1:p.Ser1158Tyr
ENST00000234420.9:c.3770C>A (MSH6)	ENSP00000234420.4:p.Ser1257Tyr
ENST00000405808.5:c.169+1868G>T (FBXO11)	ENSP00000385127.1:n.169+1868G>T
ENST00000434234.5:c.*124+1667G>T (FBXO11)	ENSP00000402692.1:n.*124+1667G>T
ENST00000445503.5:c.*3117C>A (MSH6)	ENSP00000405294.1:n.*3117C>A
ENST00000538136.1:c.2864C>A (MSH6)	ENSP00000438580.1:p.Ser955Tyr
ENST00000540021.5:c.3380C>A (MSH6)	ENSP00000446475.1:p.Ser1127Tyr
ENST00000614496.4:c.2864C>A (MSH6)	ENSP00000477844.1:p.Ser955Tyr
ENST00000622629.4:c.672C>A (MSH6)	ENSP00000482078.1:p.Phe224Leu
NM_000179.2:c.3770C>A , LRG_219t1:c.3770C>A (MSH6)	NP_000170.1:p.Ser1257Tyr
NM_001281492.1:c.3380C>A (MSH6)	NP_001268421.1:p.Ser1127Tyr
NM_001281493.1:c.2864C>A (MSH6)	NP_001268422.1:p.Ser955Tyr
NM_001281494.1:c.2864C>A (MSH6)	NP_001268423.1:p.Ser955Tyr
XM_005264271.1:c.3473C>A (MSH6)	XP_005264328.1:p.Ser1158Tyr
XM_011532798.1:c.3587C>A (MSH6)	XP_011531100.1:p.Ser1196Tyr
XM_011532799.1:c.3473C>A (MSH6)	XP_011531101.1:p.Ser1158Tyr
XM_011532800.1:c.3473C>A (MSH6)	XP_011531102.1:p.Ser1158Tyr
XM_024452819.1:c.3770C>A (MSH6)	XP_024308587.1:p.Ser1257Tyr
XM_024452820.1:c.3587C>A (MSH6)	XP_024308588.1:p.Ser1196Tyr
XM_024452821.1:c.3473C>A (MSH6)	XP_024308589.1:p.Ser1158Tyr
XM_024452822.1:c.2864C>A (MSH6)	XP_024308590.1:p.Ser955Tyr
NM_000179.3:c.3770C>A (MSH6) MANE Select	NP_000170.1:p.Ser1257Tyr
NM_001281492.2:c.3380C>A (MSH6)	NP_001268421.1:p.Ser1127Tyr
NM_001281493.2:c.2864C>A (MSH6)	NP_001268422.1:p.Ser955Tyr
NM_001281494.2:c.2864C>A (MSH6)	NP_001268423.1:p.Ser955Tyr