Canonical Allele Identifier: CA346761302

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2105087
• ClinVar RCV Id: RCV003041851
• MyVariant Identifiers: chr2:g.48033636A>T (hg19) ; chr2:g.47806497A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806497A>T , CM000664.2:g.47806497A>T	GRCh38
NC_000002.11:g.48033636A>T , CM000664.1:g.48033636A>T	GRCh37
NC_000002.10:g.47887140A>T	NCBI36
NG_007111.1:g.28351A>T , LRG_219:g.28351A>T
NG_008397.1:g.104179T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3550A>T (MSH6)	ENSP00000406248.2:p.Ile1184Phe
ENST00000420813.6:c.3550A>T (MSH6)	ENSP00000390382.2:p.Ile1184Phe
ENST00000455383.6:c.3550A>T (MSH6)	ENSP00000397484.2:p.Ile1184Phe
ENST00000700004.2:c.3463A>T (MSH6)	ENSP00000514752.2:p.Ile1155Phe
ENST00000699999.1:n.4521A>T (MSH6)
ENST00000700000.1:c.2281A>T (MSH6)	ENSP00000514749.1:p.Ile761Phe
ENST00000700002.1:c.3853A>T (MSH6)	ENSP00000514750.1:p.Ile1285Phe
ENST00000700003.1:c.1302A>T (MSH6)	ENSP00000514751.1:n.1302A>T
ENST00000700004.1:c.2620A>T (MSH6)	ENSP00000514752.1:p.Ile874Phe
ENST00000700005.1:n.2698A>T (MSH6)
ENST00000700006.1:n.5005A>T (MSH6)
ENST00000700007.1:n.2442A>T (MSH6)
ENST00000700008.1:n.2109A>T (MSH6)
ENST00000700009.1:n.2511A>T (MSH6)
ENST00000700010.1:n.1256A>T (MSH6)
ENST00000700011.1:n.3141A>T (MSH6)
ENST00000682451.1:n.4251T>A (FBXO11)
ENST00000684712.1:n.4513T>A (FBXO11)
ENST00000234420.11:c.3847A>T (MSH6) MANE Select	ENSP00000234420.5:p.Ile1283Phe
ENST00000540021.6:c.3457A>T (MSH6)	ENSP00000446475.1:p.Ile1153Phe
ENST00000652107.1:c.3550A>T (MSH6)	ENSP00000498629.1:p.Ile1184Phe
ENST00000673637.1:c.3550A>T (MSH6)	ENSP00000501310.1:p.Ile1184Phe
ENST00000234420.9:c.3847A>T (MSH6)	ENSP00000234420.4:p.Ile1283Phe
ENST00000405808.5:c.169+1698T>A (FBXO11)	ENSP00000385127.1:n.169+1698T>A
ENST00000434234.5:c.*124+1497T>A (FBXO11)	ENSP00000402692.1:n.*124+1497T>A
ENST00000445503.5:c.*3194A>T (MSH6)	ENSP00000405294.1:n.*3194A>T
ENST00000538136.1:c.2941A>T (MSH6)	ENSP00000438580.1:p.Ile981Phe
ENST00000540021.5:c.3457A>T (MSH6)	ENSP00000446475.1:p.Ile1153Phe
ENST00000614496.4:c.2941A>T (MSH6)	ENSP00000477844.1:p.Ile981Phe
ENST00000622629.4:c.748A>T (MSH6)	ENSP00000482078.1:p.Ile250Phe
NM_000179.2:c.3847A>T , LRG_219t1:c.3847A>T (MSH6)	NP_000170.1:p.Ile1283Phe
NM_001281492.1:c.3457A>T (MSH6)	NP_001268421.1:p.Ile1153Phe
NM_001281493.1:c.2941A>T (MSH6)	NP_001268422.1:p.Ile981Phe
NM_001281494.1:c.2941A>T (MSH6)	NP_001268423.1:p.Ile981Phe
XM_005264271.1:c.3550A>T (MSH6)	XP_005264328.1:p.Ile1184Phe
XM_011532798.1:c.3664A>T (MSH6)	XP_011531100.1:p.Ile1222Phe
XM_011532799.1:c.3550A>T (MSH6)	XP_011531101.1:p.Ile1184Phe
XM_011532800.1:c.3550A>T (MSH6)	XP_011531102.1:p.Ile1184Phe
XM_024452819.1:c.3940A>T (MSH6)	XP_024308587.1:p.Ile1314Phe
XM_024452820.1:c.3757A>T (MSH6)	XP_024308588.1:p.Ile1253Phe
XM_024452821.1:c.3643A>T (MSH6)	XP_024308589.1:p.Ile1215Phe
XM_024452822.1:c.3034A>T (MSH6)	XP_024308590.1:p.Ile1012Phe
NM_000179.3:c.3847A>T (MSH6) MANE Select	NP_000170.1:p.Ile1283Phe
NM_001281492.2:c.3457A>T (MSH6)	NP_001268421.1:p.Ile1153Phe
NM_001281493.2:c.2941A>T (MSH6)	NP_001268422.1:p.Ile981Phe
NM_001281494.2:c.2941A>T (MSH6)	NP_001268423.1:p.Ile981Phe