Canonical Allele Identifier: CA009450

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 183801
• ClinVar RCV Id: RCV000162595 ; RCV000436098 ; RCV000588893 ; RCV001081507
• dbSNP Id: rs368059229
• ExAC: 2:48027039 G / A
• gnomAD v2: 2-48027039-G-A
• gnomAD v3: 2-47799900-G-A
• gnomAD v4: 2-47799900-G-A
• MyVariant Identifiers: chr2:g.48027039G>A (hg19) ; chr2:g.48027039_48027042delinsAGAA (hg19) ; chr2:g.47799900G>A (hg38) ; chr2:g.47799900_47799903delinsAGAA (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799900G>A , CM000664.2:g.47799900G>A	GRCh38
NC_000002.11:g.48027039G>A , CM000664.1:g.48027039G>A	GRCh37
NC_000002.10:g.47880543G>A	NCBI36
NG_007111.1:g.21754G>A , LRG_219:g.21754G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.1620G>A (MSH6)	ENSP00000406248.2:p.Glu540=
ENST00000420813.6:c.1620G>A (MSH6)	ENSP00000390382.2:p.Glu540=
ENST00000455383.6:c.1620G>A (MSH6)	ENSP00000397484.2:p.Glu540=
ENST00000700004.2:c.1917G>A (MSH6)	ENSP00000514752.2:p.Glu639=
ENST00000699999.1:n.2001G>A (MSH6)
ENST00000700000.1:c.1606+311G>A (MSH6)	ENSP00000514749.1:n.1606+311G>A
ENST00000700002.1:c.1923G>A (MSH6)	ENSP00000514750.1:p.Glu641=
ENST00000700003.1:c.628-3520G>A (MSH6)	ENSP00000514751.1:n.628-3520G>A
ENST00000700004.1:c.1074G>A (MSH6)	ENSP00000514752.1:p.Glu358=
ENST00000234420.11:c.1917G>A (MSH6) MANE Select	ENSP00000234420.5:p.Glu639=
ENST00000540021.6:c.1527G>A (MSH6)	ENSP00000446475.1:p.Glu509=
ENST00000652107.1:c.1620G>A (MSH6)	ENSP00000498629.1:p.Glu540=
ENST00000673637.1:c.1620G>A (MSH6)	ENSP00000501310.1:p.Glu540=
ENST00000234420.9:c.1917G>A (MSH6)	ENSP00000234420.4:p.Glu639=
ENST00000405808.5:c.169+8295C>T (FBXO11)	ENSP00000385127.1:n.169+8295C>T
ENST00000434234.5:c.*124+8094C>T (FBXO11)	ENSP00000402692.1:n.*124+8094C>T
ENST00000445503.5:c.*1264G>A (MSH6)	ENSP00000405294.1:n.*1264G>A
ENST00000538136.1:c.1011G>A (MSH6)	ENSP00000438580.1:p.Glu337=
ENST00000540021.5:c.1527G>A (MSH6)	ENSP00000446475.1:p.Glu509=
ENST00000614496.4:c.1011G>A (MSH6)	ENSP00000477844.1:p.Glu337=
ENST00000616033.4:c.1914G>A (MSH6)	ENSP00000480261.1:p.Glu638=
ENST00000622629.4:c.-1180G>A (MSH6)	ENSP00000482078.1:n.-1180G>A
NM_000179.2:c.1917G>A , LRG_219t1:c.1917G>A (MSH6)	NP_000170.1:p.Glu639=
NM_001281492.1:c.1527G>A (MSH6)	NP_001268421.1:p.Glu509=
NM_001281493.1:c.1011G>A (MSH6)	NP_001268422.1:p.Glu337=
NM_001281494.1:c.1011G>A (MSH6)	NP_001268423.1:p.Glu337=
XM_005264271.1:c.1620G>A (MSH6)	XP_005264328.1:p.Glu540=
XM_011532798.1:c.1734G>A (MSH6)	XP_011531100.1:p.Glu578=
XM_011532799.1:c.1620G>A (MSH6)	XP_011531101.1:p.Glu540=
XM_011532800.1:c.1620G>A (MSH6)	XP_011531102.1:p.Glu540=
XM_024452819.1:c.1917G>A (MSH6)	XP_024308587.1:p.Glu639=
XM_024452820.1:c.1734G>A (MSH6)	XP_024308588.1:p.Glu578=
XM_024452821.1:c.1620G>A (MSH6)	XP_024308589.1:p.Glu540=
XM_024452822.1:c.1011G>A (MSH6)	XP_024308590.1:p.Glu337=
NM_000179.3:c.1917G>A (MSH6) MANE Select	NP_000170.1:p.Glu639=
NM_001281492.2:c.1527G>A (MSH6)	NP_001268421.1:p.Glu509=
NM_001281493.2:c.1011G>A (MSH6)	NP_001268422.1:p.Glu337=
NM_001281494.2:c.1011G>A (MSH6)	NP_001268423.1:p.Glu337=