Canonical Allele Identifier: CA346750829

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 928260
• ClinVar RCV Id: RCV001192034 ; RCV003462666 ; RCV004010566
• dbSNP Id: rs1669418611
• gnomAD v4: 2-47800066-C-G
• MyVariant Identifiers: chr2:g.48027205C>G (hg19) ; chr2:g.47800066C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800066C>G , CM000664.2:g.47800066C>G	GRCh38
NC_000002.11:g.48027205C>G , CM000664.1:g.48027205C>G	GRCh37
NC_000002.10:g.47880709C>G	NCBI36
NG_007111.1:g.21920C>G , LRG_219:g.21920C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1786C>G (MSH6)	ENSP00000406248.2:p.Leu596Val
ENST00000420813.6:c.1786C>G (MSH6)	ENSP00000390382.2:p.Leu596Val
ENST00000455383.6:c.1786C>G (MSH6)	ENSP00000397484.2:p.Leu596Val
ENST00000700004.2:c.2083C>G (MSH6)	ENSP00000514752.2:p.Leu695Val
ENST00000699999.1:n.2167C>G (MSH6)
ENST00000700000.1:c.1606+477C>G (MSH6)	ENSP00000514749.1:n.1606+477C>G
ENST00000700002.1:c.2089C>G (MSH6)	ENSP00000514750.1:p.Leu697Val
ENST00000700003.1:c.628-3354C>G (MSH6)	ENSP00000514751.1:n.628-3354C>G
ENST00000700004.1:c.1240C>G (MSH6)	ENSP00000514752.1:p.Leu414Val
ENST00000234420.11:c.2083C>G (MSH6) MANE Select	ENSP00000234420.5:p.Leu695Val
ENST00000540021.6:c.1693C>G (MSH6)	ENSP00000446475.1:p.Leu565Val
ENST00000652107.1:c.1786C>G (MSH6)	ENSP00000498629.1:p.Leu596Val
ENST00000673637.1:c.1786C>G (MSH6)	ENSP00000501310.1:p.Leu596Val
ENST00000234420.9:c.2083C>G (MSH6)	ENSP00000234420.4:p.Leu695Val
ENST00000405808.5:c.169+8129G>C (FBXO11)	ENSP00000385127.1:n.169+8129G>C
ENST00000434234.5:c.*124+7928G>C (FBXO11)	ENSP00000402692.1:n.*124+7928G>C
ENST00000445503.5:c.*1430C>G (MSH6)	ENSP00000405294.1:n.*1430C>G
ENST00000538136.1:c.1177C>G (MSH6)	ENSP00000438580.1:p.Leu393Val
ENST00000540021.5:c.1693C>G (MSH6)	ENSP00000446475.1:p.Leu565Val
ENST00000614496.4:c.1177C>G (MSH6)	ENSP00000477844.1:p.Leu393Val
ENST00000616033.4:c.2080C>G (MSH6)	ENSP00000480261.1:p.Leu694Val
ENST00000622629.4:c.-1014C>G (MSH6)	ENSP00000482078.1:n.-1014C>G
NM_000179.2:c.2083C>G , LRG_219t1:c.2083C>G (MSH6)	NP_000170.1:p.Leu695Val
NM_001281492.1:c.1693C>G (MSH6)	NP_001268421.1:p.Leu565Val
NM_001281493.1:c.1177C>G (MSH6)	NP_001268422.1:p.Leu393Val
NM_001281494.1:c.1177C>G (MSH6)	NP_001268423.1:p.Leu393Val
XM_005264271.1:c.1786C>G (MSH6)	XP_005264328.1:p.Leu596Val
XM_011532798.1:c.1900C>G (MSH6)	XP_011531100.1:p.Leu634Val
XM_011532799.1:c.1786C>G (MSH6)	XP_011531101.1:p.Leu596Val
XM_011532800.1:c.1786C>G (MSH6)	XP_011531102.1:p.Leu596Val
XM_024452819.1:c.2083C>G (MSH6)	XP_024308587.1:p.Leu695Val
XM_024452820.1:c.1900C>G (MSH6)	XP_024308588.1:p.Leu634Val
XM_024452821.1:c.1786C>G (MSH6)	XP_024308589.1:p.Leu596Val
XM_024452822.1:c.1177C>G (MSH6)	XP_024308590.1:p.Leu393Val
NM_000179.3:c.2083C>G (MSH6) MANE Select	NP_000170.1:p.Leu695Val
NM_001281492.2:c.1693C>G (MSH6)	NP_001268421.1:p.Leu565Val
NM_001281493.2:c.1177C>G (MSH6)	NP_001268422.1:p.Leu393Val
NM_001281494.2:c.1177C>G (MSH6)	NP_001268423.1:p.Leu393Val