Canonical Allele Identifier: CA346761471

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1720893
• ClinVar RCV Id: RCV002300130
• dbSNP Id: rs1553333601
• MyVariant Identifiers: chr2:g.48033715C>A (hg19) ; chr2:g.47806576C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806576C>A , CM000664.2:g.47806576C>A	GRCh38
NC_000002.11:g.48033715C>A , CM000664.1:g.48033715C>A	GRCh37
NC_000002.10:g.47887219C>A	NCBI36
NG_007111.1:g.28430C>A , LRG_219:g.28430C>A
NG_008397.1:g.104100G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3629C>A (MSH6)	ENSP00000406248.2:p.Pro1210Gln
ENST00000420813.6:c.3629C>A (MSH6)	ENSP00000390382.2:p.Pro1210Gln
ENST00000455383.6:c.3629C>A (MSH6)	ENSP00000397484.2:p.Pro1210Gln
ENST00000700004.2:c.3542C>A (MSH6)	ENSP00000514752.2:p.Pro1181Gln
ENST00000699999.1:n.4600C>A (MSH6)
ENST00000700000.1:c.2360C>A (MSH6)	ENSP00000514749.1:p.Pro787Gln
ENST00000700002.1:c.3932C>A (MSH6)	ENSP00000514750.1:p.Pro1311Gln
ENST00000700003.1:c.1381C>A (MSH6)	ENSP00000514751.1:n.1381C>A
ENST00000700004.1:c.2699C>A (MSH6)	ENSP00000514752.1:p.Pro900Gln
ENST00000700005.1:n.2777C>A (MSH6)
ENST00000700006.1:n.5084C>A (MSH6)
ENST00000700007.1:n.2521C>A (MSH6)
ENST00000700008.1:n.2188C>A (MSH6)
ENST00000700009.1:n.2590C>A (MSH6)
ENST00000700010.1:n.1335C>A (MSH6)
ENST00000700011.1:n.3220C>A (MSH6)
ENST00000682451.1:n.4172G>T (FBXO11)
ENST00000684712.1:n.4434G>T (FBXO11)
ENST00000234420.11:c.3926C>A (MSH6) MANE Select	ENSP00000234420.5:p.Pro1309Gln
ENST00000540021.6:c.3536C>A (MSH6)	ENSP00000446475.1:p.Pro1179Gln
ENST00000652107.1:c.3629C>A (MSH6)	ENSP00000498629.1:p.Pro1210Gln
ENST00000673637.1:c.3629C>A (MSH6)	ENSP00000501310.1:p.Pro1210Gln
ENST00000234420.9:c.3926C>A (MSH6)	ENSP00000234420.4:p.Pro1309Gln
ENST00000405808.5:c.169+1619G>T (FBXO11)	ENSP00000385127.1:n.169+1619G>T
ENST00000434234.5:c.*124+1418G>T (FBXO11)	ENSP00000402692.1:n.*124+1418G>T
ENST00000445503.5:c.*3273C>A (MSH6)	ENSP00000405294.1:n.*3273C>A
ENST00000538136.1:c.3020C>A (MSH6)	ENSP00000438580.1:p.Pro1007Gln
ENST00000540021.5:c.3536C>A (MSH6)	ENSP00000446475.1:p.Pro1179Gln
ENST00000614496.4:c.3020C>A (MSH6)	ENSP00000477844.1:p.Pro1007Gln
ENST00000622629.4:c.827C>A (MSH6)	ENSP00000482078.1:p.Pro276Gln
NM_000179.2:c.3926C>A , LRG_219t1:c.3926C>A (MSH6)	NP_000170.1:p.Pro1309Gln
NM_001281492.1:c.3536C>A (MSH6)	NP_001268421.1:p.Pro1179Gln
NM_001281493.1:c.3020C>A (MSH6)	NP_001268422.1:p.Pro1007Gln
NM_001281494.1:c.3020C>A (MSH6)	NP_001268423.1:p.Pro1007Gln
XM_005264271.1:c.3629C>A (MSH6)	XP_005264328.1:p.Pro1210Gln
XM_011532798.1:c.3743C>A (MSH6)	XP_011531100.1:p.Pro1248Gln
XM_011532799.1:c.3629C>A (MSH6)	XP_011531101.1:p.Pro1210Gln
XM_011532800.1:c.3629C>A (MSH6)	XP_011531102.1:p.Pro1210Gln
XM_024452819.1:c.4019C>A (MSH6)	XP_024308587.1:p.Pro1340Gln
XM_024452820.1:c.3836C>A (MSH6)	XP_024308588.1:p.Pro1279Gln
XM_024452821.1:c.3722C>A (MSH6)	XP_024308589.1:p.Pro1241Gln
XM_024452822.1:c.3113C>A (MSH6)	XP_024308590.1:p.Pro1038Gln
NM_000179.3:c.3926C>A (MSH6) MANE Select	NP_000170.1:p.Pro1309Gln
NM_001281492.2:c.3536C>A (MSH6)	NP_001268421.1:p.Pro1179Gln
NM_001281493.2:c.3020C>A (MSH6)	NP_001268422.1:p.Pro1007Gln
NM_001281494.2:c.3020C>A (MSH6)	NP_001268423.1:p.Pro1007Gln