Canonical Allele Identifier: CA072347

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 455310
• ClinVar RCV Id: RCV000537305 ; RCV000774617 ; RCV001140557
• dbSNP Id: rs768042560
• ExAC: 2:48033731 A / G
• gnomAD v2: 2-48033731-A-G
• gnomAD v3: 2-47806592-A-G
• gnomAD v4: 2-47806592-A-G
• MyVariant Identifiers: chr2:g.48033731A>G (hg19) ; chr2:g.47806592A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806592A>G , CM000664.2:g.47806592A>G	GRCh38
NC_000002.11:g.48033731A>G , CM000664.1:g.48033731A>G	GRCh37
NC_000002.10:g.47887235A>G	NCBI36
NG_007111.1:g.28446A>G , LRG_219:g.28446A>G
NG_008397.1:g.104084T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3645A>G (MSH6)	ENSP00000406248.2:p.Gln1215=
ENST00000420813.6:c.3645A>G (MSH6)	ENSP00000390382.2:p.Gln1215=
ENST00000455383.6:c.3645A>G (MSH6)	ENSP00000397484.2:p.Gln1215=
ENST00000700004.2:c.3558A>G (MSH6)	ENSP00000514752.2:p.Gln1186=
ENST00000699999.1:n.4616A>G (MSH6)
ENST00000700000.1:c.2376A>G (MSH6)	ENSP00000514749.1:p.Gln792=
ENST00000700002.1:c.3948A>G (MSH6)	ENSP00000514750.1:p.Gln1316=
ENST00000700003.1:c.1397A>G (MSH6)	ENSP00000514751.1:n.1397A>G
ENST00000700004.1:c.2715A>G (MSH6)	ENSP00000514752.1:p.Gln905=
ENST00000700005.1:n.2793A>G (MSH6)
ENST00000700006.1:n.5100A>G (MSH6)
ENST00000700007.1:n.2537A>G (MSH6)
ENST00000700008.1:n.2204A>G (MSH6)
ENST00000700009.1:n.2606A>G (MSH6)
ENST00000700010.1:n.1351A>G (MSH6)
ENST00000700011.1:n.3236A>G (MSH6)
ENST00000682451.1:n.4156T>C (FBXO11)
ENST00000684712.1:n.4418T>C (FBXO11)
ENST00000234420.11:c.3942A>G (MSH6) MANE Select	ENSP00000234420.5:p.Gln1314=
ENST00000540021.6:c.3552A>G (MSH6)	ENSP00000446475.1:p.Gln1184=
ENST00000652107.1:c.3645A>G (MSH6)	ENSP00000498629.1:p.Gln1215=
ENST00000673637.1:c.3645A>G (MSH6)	ENSP00000501310.1:p.Gln1215=
ENST00000234420.9:c.3942A>G (MSH6)	ENSP00000234420.4:p.Gln1314=
ENST00000405808.5:c.169+1603T>C (FBXO11)	ENSP00000385127.1:n.169+1603T>C
ENST00000434234.5:c.*124+1402T>C (FBXO11)	ENSP00000402692.1:n.*124+1402T>C
ENST00000445503.5:c.*3289A>G (MSH6)	ENSP00000405294.1:n.*3289A>G
ENST00000538136.1:c.3036A>G (MSH6)	ENSP00000438580.1:p.Gln1012=
ENST00000540021.5:c.3552A>G (MSH6)	ENSP00000446475.1:p.Gln1184=
ENST00000614496.4:c.3036A>G (MSH6)	ENSP00000477844.1:p.Gln1012=
ENST00000622629.4:c.843A>G (MSH6)	ENSP00000482078.1:p.Gln281=
NM_000179.2:c.3942A>G , LRG_219t1:c.3942A>G (MSH6)	NP_000170.1:p.Gln1314=
NM_001281492.1:c.3552A>G (MSH6)	NP_001268421.1:p.Gln1184=
NM_001281493.1:c.3036A>G (MSH6)	NP_001268422.1:p.Gln1012=
NM_001281494.1:c.3036A>G (MSH6)	NP_001268423.1:p.Gln1012=
XM_005264271.1:c.3645A>G (MSH6)	XP_005264328.1:p.Gln1215=
XM_011532798.1:c.3759A>G (MSH6)	XP_011531100.1:p.Gln1253=
XM_011532799.1:c.3645A>G (MSH6)	XP_011531101.1:p.Gln1215=
XM_011532800.1:c.3645A>G (MSH6)	XP_011531102.1:p.Gln1215=
XM_024452819.1:c.4035A>G (MSH6)	XP_024308587.1:p.Gln1345=
XM_024452820.1:c.3852A>G (MSH6)	XP_024308588.1:p.Gln1284=
XM_024452821.1:c.3738A>G (MSH6)	XP_024308589.1:p.Gln1246=
XM_024452822.1:c.3129A>G (MSH6)	XP_024308590.1:p.Gln1043=
NM_000179.3:c.3942A>G (MSH6) MANE Select	NP_000170.1:p.Gln1314=
NM_001281492.2:c.3552A>G (MSH6)	NP_001268421.1:p.Gln1184=
NM_001281493.2:c.3036A>G (MSH6)	NP_001268422.1:p.Gln1012=
NM_001281494.2:c.3036A>G (MSH6)	NP_001268423.1:p.Gln1012=