Canonical Allele Identifier: CA016086

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89547
• ClinVar RCV Id: RCV000075016 ; RCV000485263 ; RCV000703480 ; RCV001025256 ; RCV002477214 ; RCV003450990
• dbSNP Id: rs1800937
• gnomAD v4: 2-47798625-C-G
• MyVariant Identifiers: chr2:g.48025764C>G (hg19) ; chr2:g.47798625C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798625C>G , CM000664.2:g.47798625C>G	GRCh38
NC_000002.11:g.48025764C>G , CM000664.1:g.48025764C>G	GRCh37
NC_000002.10:g.47879268C>G	NCBI36
NG_007111.1:g.20479C>G , LRG_219:g.20479C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.345C>G (MSH6)	ENSP00000406248.2:p.Tyr115Ter
ENST00000420813.6:c.345C>G (MSH6)	ENSP00000390382.2:p.Tyr115Ter
ENST00000455383.6:c.345C>G (MSH6)	ENSP00000397484.2:p.Tyr115Ter
ENST00000700004.2:c.642C>G (MSH6)	ENSP00000514752.2:p.Tyr214Ter
ENST00000699999.1:n.726C>G (MSH6)
ENST00000700000.1:c.642C>G (MSH6)	ENSP00000514749.1:p.Tyr214Ter
ENST00000700002.1:c.648C>G (MSH6)	ENSP00000514750.1:p.Tyr216Ter
ENST00000700003.1:c.627+2562C>G (MSH6)	ENSP00000514751.1:n.627+2562C>G
ENST00000234420.11:c.642C>G (MSH6) MANE Select	ENSP00000234420.5:p.Tyr214Ter
ENST00000540021.6:c.252C>G (MSH6)	ENSP00000446475.1:p.Tyr84Ter
ENST00000652107.1:c.345C>G (MSH6)	ENSP00000498629.1:p.Tyr115Ter
ENST00000673637.1:c.345C>G (MSH6)	ENSP00000501310.1:p.Tyr115Ter
ENST00000673922.1:n.364C>G (MSH6)
ENST00000234420.9:c.642C>G (MSH6)	ENSP00000234420.4:p.Tyr214Ter
ENST00000405808.5:c.170-9185G>C (FBXO11)	ENSP00000385127.1:n.170-9185G>C
ENST00000411819.1:c.345C>G (MSH6)	ENSP00000406248.1:p.Tyr115Ter
ENST00000434234.5:c.*125-9185G>C (FBXO11)	ENSP00000402692.1:n.*125-9185G>C
ENST00000445503.5:c.472C>G (MSH6)	ENSP00000405294.1:p.Arg158Gly
ENST00000455383.5:c.345C>G (MSH6)	ENSP00000397484.1:p.Tyr115Ter
ENST00000456246.1:c.*130C>G (MSH6)	ENSP00000410570.1:n.*130C>G
ENST00000538136.1:c.-265C>G (MSH6)	ENSP00000438580.1:n.-265C>G
ENST00000540021.5:c.252C>G (MSH6)	ENSP00000446475.1:p.Tyr84Ter
ENST00000614496.4:c.-265C>G (MSH6)	ENSP00000477844.1:n.-265C>G
ENST00000616033.4:c.639C>G (MSH6)	ENSP00000480261.1:p.Tyr213Ter
ENST00000622629.4:c.-2455C>G (MSH6)	ENSP00000482078.1:n.-2455C>G
NM_000179.2:c.642C>G , LRG_219t1:c.642C>G (MSH6)	NP_000170.1:p.Tyr214Ter
NM_001281492.1:c.252C>G (MSH6)	NP_001268421.1:p.Tyr84Ter
NM_001281493.1:c.-265C>G (MSH6)	NP_001268422.1:n.-265C>G
NM_001281494.1:c.-265C>G (MSH6)	NP_001268423.1:n.-265C>G
XM_005264271.1:c.345C>G (MSH6)	XP_005264328.1:p.Tyr115Ter
XM_011532798.1:c.459C>G (MSH6)	XP_011531100.1:p.Tyr153Ter
XM_011532799.1:c.345C>G (MSH6)	XP_011531101.1:p.Tyr115Ter
XM_011532800.1:c.345C>G (MSH6)	XP_011531102.1:p.Tyr115Ter
XM_024452819.1:c.642C>G (MSH6)	XP_024308587.1:p.Tyr214Ter
XM_024452820.1:c.459C>G (MSH6)	XP_024308588.1:p.Tyr153Ter
XM_024452821.1:c.345C>G (MSH6)	XP_024308589.1:p.Tyr115Ter
XM_024452822.1:c.-265C>G (MSH6)	XP_024308590.1:n.-265C>G
NM_000179.3:c.642C>G (MSH6) MANE Select	NP_000170.1:p.Tyr214Ter
NM_001281492.2:c.252C>G (MSH6)	NP_001268421.1:p.Tyr84Ter
NM_001281493.2:c.-265C>G (MSH6)	NP_001268422.1:n.-265C>G
NM_001281494.2:c.-265C>G (MSH6)	NP_001268423.1:n.-265C>G