Canonical Allele Identifier: CA346761304

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1735481
• ClinVar RCV Id: RCV002364100
• dbSNP Id: rs1180903149
• gnomAD v2: 2-48033637-T-A
• gnomAD v4: 2-47806498-T-A
• MyVariant Identifiers: chr2:g.48033637T>A (hg19) ; chr2:g.47806498T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806498T>A , CM000664.2:g.47806498T>A	GRCh38
NC_000002.11:g.48033637T>A , CM000664.1:g.48033637T>A	GRCh37
NC_000002.10:g.47887141T>A	NCBI36
NG_007111.1:g.28352T>A , LRG_219:g.28352T>A
NG_008397.1:g.104178A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3551T>A (MSH6)	ENSP00000406248.2:p.Ile1184Asn
ENST00000420813.6:c.3551T>A (MSH6)	ENSP00000390382.2:p.Ile1184Asn
ENST00000455383.6:c.3551T>A (MSH6)	ENSP00000397484.2:p.Ile1184Asn
ENST00000700004.2:c.3464T>A (MSH6)	ENSP00000514752.2:p.Ile1155Asn
ENST00000699999.1:n.4522T>A (MSH6)
ENST00000700000.1:c.2282T>A (MSH6)	ENSP00000514749.1:p.Ile761Asn
ENST00000700002.1:c.3854T>A (MSH6)	ENSP00000514750.1:p.Ile1285Asn
ENST00000700003.1:c.1303T>A (MSH6)	ENSP00000514751.1:n.1303T>A
ENST00000700004.1:c.2621T>A (MSH6)	ENSP00000514752.1:p.Ile874Asn
ENST00000700005.1:n.2699T>A (MSH6)
ENST00000700006.1:n.5006T>A (MSH6)
ENST00000700007.1:n.2443T>A (MSH6)
ENST00000700008.1:n.2110T>A (MSH6)
ENST00000700009.1:n.2512T>A (MSH6)
ENST00000700010.1:n.1257T>A (MSH6)
ENST00000700011.1:n.3142T>A (MSH6)
ENST00000682451.1:n.4250A>T (FBXO11)
ENST00000684712.1:n.4512A>T (FBXO11)
ENST00000234420.11:c.3848T>A (MSH6) MANE Select	ENSP00000234420.5:p.Ile1283Asn
ENST00000540021.6:c.3458T>A (MSH6)	ENSP00000446475.1:p.Ile1153Asn
ENST00000652107.1:c.3551T>A (MSH6)	ENSP00000498629.1:p.Ile1184Asn
ENST00000673637.1:c.3551T>A (MSH6)	ENSP00000501310.1:p.Ile1184Asn
ENST00000234420.9:c.3848T>A (MSH6)	ENSP00000234420.4:p.Ile1283Asn
ENST00000405808.5:c.169+1697A>T (FBXO11)	ENSP00000385127.1:n.169+1697A>T
ENST00000434234.5:c.*124+1496A>T (FBXO11)	ENSP00000402692.1:n.*124+1496A>T
ENST00000445503.5:c.*3195T>A (MSH6)	ENSP00000405294.1:n.*3195T>A
ENST00000538136.1:c.2942T>A (MSH6)	ENSP00000438580.1:p.Ile981Asn
ENST00000540021.5:c.3458T>A (MSH6)	ENSP00000446475.1:p.Ile1153Asn
ENST00000614496.4:c.2942T>A (MSH6)	ENSP00000477844.1:p.Ile981Asn
ENST00000622629.4:c.749T>A (MSH6)	ENSP00000482078.1:p.Ile250Asn
NM_000179.2:c.3848T>A , LRG_219t1:c.3848T>A (MSH6)	NP_000170.1:p.Ile1283Asn
NM_001281492.1:c.3458T>A (MSH6)	NP_001268421.1:p.Ile1153Asn
NM_001281493.1:c.2942T>A (MSH6)	NP_001268422.1:p.Ile981Asn
NM_001281494.1:c.2942T>A (MSH6)	NP_001268423.1:p.Ile981Asn
XM_005264271.1:c.3551T>A (MSH6)	XP_005264328.1:p.Ile1184Asn
XM_011532798.1:c.3665T>A (MSH6)	XP_011531100.1:p.Ile1222Asn
XM_011532799.1:c.3551T>A (MSH6)	XP_011531101.1:p.Ile1184Asn
XM_011532800.1:c.3551T>A (MSH6)	XP_011531102.1:p.Ile1184Asn
XM_024452819.1:c.3941T>A (MSH6)	XP_024308587.1:p.Ile1314Asn
XM_024452820.1:c.3758T>A (MSH6)	XP_024308588.1:p.Ile1253Asn
XM_024452821.1:c.3644T>A (MSH6)	XP_024308589.1:p.Ile1215Asn
XM_024452822.1:c.3035T>A (MSH6)	XP_024308590.1:p.Ile1012Asn
NM_000179.3:c.3848T>A (MSH6) MANE Select	NP_000170.1:p.Ile1283Asn
NM_001281492.2:c.3458T>A (MSH6)	NP_001268421.1:p.Ile1153Asn
NM_001281493.2:c.2942T>A (MSH6)	NP_001268422.1:p.Ile981Asn
NM_001281494.2:c.2942T>A (MSH6)	NP_001268423.1:p.Ile981Asn