Canonical Allele Identifier: CA346740068

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 483834
• ClinVar RCV Id: RCV001858308
• dbSNP Id: rs1297205425
• gnomAD v2: 2-48025859-A-G
• gnomAD v3: 2-47798720-A-G
• gnomAD v4: 2-47798720-A-G
• MyVariant Identifiers: chr2:g.48025859A>G (hg19) ; chr2:g.47798720A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798720A>G , CM000664.2:g.47798720A>G	GRCh38
NC_000002.11:g.48025859A>G , CM000664.1:g.48025859A>G	GRCh37
NC_000002.10:g.47879363A>G	NCBI36
NG_007111.1:g.20574A>G , LRG_219:g.20574A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.440A>G (MSH6)	ENSP00000406248.2:p.Lys147Arg
ENST00000420813.6:c.440A>G (MSH6)	ENSP00000390382.2:p.Lys147Arg
ENST00000455383.6:c.440A>G (MSH6)	ENSP00000397484.2:p.Lys147Arg
ENST00000700004.2:c.737A>G (MSH6)	ENSP00000514752.2:p.Lys246Arg
ENST00000699999.1:n.821A>G (MSH6)
ENST00000700000.1:c.737A>G (MSH6)	ENSP00000514749.1:p.Lys246Arg
ENST00000700002.1:c.743A>G (MSH6)	ENSP00000514750.1:p.Lys248Arg
ENST00000700003.1:c.627+2657A>G (MSH6)	ENSP00000514751.1:n.627+2657A>G
ENST00000234420.11:c.737A>G (MSH6) MANE Select	ENSP00000234420.5:p.Lys246Arg
ENST00000540021.6:c.347A>G (MSH6)	ENSP00000446475.1:p.Lys116Arg
ENST00000652107.1:c.440A>G (MSH6)	ENSP00000498629.1:p.Lys147Arg
ENST00000673637.1:c.440A>G (MSH6)	ENSP00000501310.1:p.Lys147Arg
ENST00000673922.1:n.459A>G (MSH6)
ENST00000234420.9:c.737A>G (MSH6)	ENSP00000234420.4:p.Lys246Arg
ENST00000405808.5:c.170-9280T>C (FBXO11)	ENSP00000385127.1:n.170-9280T>C
ENST00000411819.1:c.440A>G (MSH6)	ENSP00000406248.1:p.Lys147Arg
ENST00000434234.5:c.*124+9274T>C (FBXO11)	ENSP00000402692.1:n.*124+9274T>C
ENST00000445503.5:c.*84A>G (MSH6)	ENSP00000405294.1:n.*84A>G
ENST00000456246.1:c.*225A>G (MSH6)	ENSP00000410570.1:n.*225A>G
ENST00000538136.1:c.-170A>G (MSH6)	ENSP00000438580.1:n.-170A>G
ENST00000540021.5:c.347A>G (MSH6)	ENSP00000446475.1:p.Lys116Arg
ENST00000614496.4:c.-170A>G (MSH6)	ENSP00000477844.1:n.-170A>G
ENST00000616033.4:c.734A>G (MSH6)	ENSP00000480261.1:p.Lys245Arg
ENST00000622629.4:c.-2360A>G (MSH6)	ENSP00000482078.1:n.-2360A>G
NM_000179.2:c.737A>G , LRG_219t1:c.737A>G (MSH6)	NP_000170.1:p.Lys246Arg
NM_001281492.1:c.347A>G (MSH6)	NP_001268421.1:p.Lys116Arg
NM_001281493.1:c.-170A>G (MSH6)	NP_001268422.1:n.-170A>G
NM_001281494.1:c.-170A>G (MSH6)	NP_001268423.1:n.-170A>G
XM_005264271.1:c.440A>G (MSH6)	XP_005264328.1:p.Lys147Arg
XM_011532798.1:c.554A>G (MSH6)	XP_011531100.1:p.Lys185Arg
XM_011532799.1:c.440A>G (MSH6)	XP_011531101.1:p.Lys147Arg
XM_011532800.1:c.440A>G (MSH6)	XP_011531102.1:p.Lys147Arg
XM_024452819.1:c.737A>G (MSH6)	XP_024308587.1:p.Lys246Arg
XM_024452820.1:c.554A>G (MSH6)	XP_024308588.1:p.Lys185Arg
XM_024452821.1:c.440A>G (MSH6)	XP_024308589.1:p.Lys147Arg
XM_024452822.1:c.-170A>G (MSH6)	XP_024308590.1:n.-170A>G
NM_000179.3:c.737A>G (MSH6) MANE Select	NP_000170.1:p.Lys246Arg
NM_001281492.2:c.347A>G (MSH6)	NP_001268421.1:p.Lys116Arg
NM_001281493.2:c.-170A>G (MSH6)	NP_001268422.1:n.-170A>G
NM_001281494.2:c.-170A>G (MSH6)	NP_001268423.1:n.-170A>G