Canonical Allele Identifier: CA073560

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 216323
• ClinVar RCV Id: RCV000199066 ; RCV000214218 ; RCV000586061 ; RCV002267932 ; RCV003462324 ; RCV003491942 ; RCV003997003
• dbSNP Id: rs55760494
• ExAC: 2:48026021 G / A
• gnomAD v2: 2-48026021-G-A
• gnomAD v3: 2-47798882-G-A
• gnomAD v4: 2-47798882-G-A
• COSMIC: COSM5773502
• MyVariant Identifiers: chr2:g.48026021G>A (hg19) ; chr2:g.47798882G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798882G>A , CM000664.2:g.47798882G>A	GRCh38
NC_000002.11:g.48026021G>A , CM000664.1:g.48026021G>A	GRCh37
NC_000002.10:g.47879525G>A	NCBI36
NG_007111.1:g.20736G>A , LRG_219:g.20736G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.602G>A (MSH6)	ENSP00000406248.2:p.Arg201Gln
ENST00000420813.6:c.602G>A (MSH6)	ENSP00000390382.2:p.Arg201Gln
ENST00000455383.6:c.602G>A (MSH6)	ENSP00000397484.2:p.Arg201Gln
ENST00000700004.2:c.899G>A (MSH6)	ENSP00000514752.2:p.Arg300Gln
ENST00000699999.1:n.983G>A (MSH6)
ENST00000700000.1:c.899G>A (MSH6)	ENSP00000514749.1:p.Arg300Gln
ENST00000700002.1:c.905G>A (MSH6)	ENSP00000514750.1:p.Arg302Gln
ENST00000700003.1:c.627+2819G>A (MSH6)	ENSP00000514751.1:n.627+2819G>A
ENST00000700004.1:c.56G>A (MSH6)	ENSP00000514752.1:p.Arg19Gln
ENST00000234420.11:c.899G>A (MSH6) MANE Select	ENSP00000234420.5:p.Arg300Gln
ENST00000540021.6:c.509G>A (MSH6)	ENSP00000446475.1:p.Arg170Gln
ENST00000652107.1:c.602G>A (MSH6)	ENSP00000498629.1:p.Arg201Gln
ENST00000673637.1:c.602G>A (MSH6)	ENSP00000501310.1:p.Arg201Gln
ENST00000234420.9:c.899G>A (MSH6)	ENSP00000234420.4:p.Arg300Gln
ENST00000405808.5:c.169+9313C>T (FBXO11)	ENSP00000385127.1:n.169+9313C>T
ENST00000434234.5:c.*124+9112C>T (FBXO11)	ENSP00000402692.1:n.*124+9112C>T
ENST00000445503.5:c.*246G>A (MSH6)	ENSP00000405294.1:n.*246G>A
ENST00000456246.1:c.*387G>A (MSH6)	ENSP00000410570.1:n.*387G>A
ENST00000538136.1:c.-8G>A (MSH6)	ENSP00000438580.1:n.-8G>A
ENST00000540021.5:c.509G>A (MSH6)	ENSP00000446475.1:p.Arg170Gln
ENST00000614496.4:c.-8G>A (MSH6)	ENSP00000477844.1:n.-8G>A
ENST00000616033.4:c.896G>A (MSH6)	ENSP00000480261.1:p.Arg299Gln
ENST00000622629.4:c.-2198G>A (MSH6)	ENSP00000482078.1:n.-2198G>A
NM_000179.2:c.899G>A , LRG_219t1:c.899G>A (MSH6)	NP_000170.1:p.Arg300Gln
NM_001281492.1:c.509G>A (MSH6)	NP_001268421.1:p.Arg170Gln
NM_001281493.1:c.-8G>A (MSH6)	NP_001268422.1:n.-8G>A
NM_001281494.1:c.-8G>A (MSH6)	NP_001268423.1:n.-8G>A
XM_005264271.1:c.602G>A (MSH6)	XP_005264328.1:p.Arg201Gln
XM_011532798.1:c.716G>A (MSH6)	XP_011531100.1:p.Arg239Gln
XM_011532799.1:c.602G>A (MSH6)	XP_011531101.1:p.Arg201Gln
XM_011532800.1:c.602G>A (MSH6)	XP_011531102.1:p.Arg201Gln
XM_024452819.1:c.899G>A (MSH6)	XP_024308587.1:p.Arg300Gln
XM_024452820.1:c.716G>A (MSH6)	XP_024308588.1:p.Arg239Gln
XM_024452821.1:c.602G>A (MSH6)	XP_024308589.1:p.Arg201Gln
XM_024452822.1:c.-8G>A (MSH6)	XP_024308590.1:n.-8G>A
NM_000179.3:c.899G>A (MSH6) MANE Select	NP_000170.1:p.Arg300Gln
NM_001281492.2:c.509G>A (MSH6)	NP_001268421.1:p.Arg170Gln
NM_001281493.2:c.-8G>A (MSH6)	NP_001268422.1:n.-8G>A
NM_001281494.2:c.-8G>A (MSH6)	NP_001268423.1:n.-8G>A