Canonical Allele Identifier: CA346741119

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1768703
• ClinVar RCV Id: RCV002382920 ; RCV003464506
• dbSNP Id: rs2104312080
• gnomAD v4: 2-47798977-G-A
• MyVariant Identifiers: chr2:g.48026116G>A (hg19) ; chr2:g.47798977G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798977G>A , CM000664.2:g.47798977G>A	GRCh38
NC_000002.11:g.48026116G>A , CM000664.1:g.48026116G>A	GRCh37
NC_000002.10:g.47879620G>A	NCBI36
NG_007111.1:g.20831G>A , LRG_219:g.20831G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.697G>A (MSH6)	ENSP00000406248.2:p.Glu233Lys
ENST00000420813.6:c.697G>A (MSH6)	ENSP00000390382.2:p.Glu233Lys
ENST00000455383.6:c.697G>A (MSH6)	ENSP00000397484.2:p.Glu233Lys
ENST00000700004.2:c.994G>A (MSH6)	ENSP00000514752.2:p.Glu332Lys
ENST00000699999.1:n.1078G>A (MSH6)
ENST00000700000.1:c.994G>A (MSH6)	ENSP00000514749.1:p.Glu332Lys
ENST00000700002.1:c.1000G>A (MSH6)	ENSP00000514750.1:p.Glu334Lys
ENST00000700003.1:c.627+2914G>A (MSH6)	ENSP00000514751.1:n.627+2914G>A
ENST00000700004.1:c.151G>A (MSH6)	ENSP00000514752.1:p.Glu51Lys
ENST00000234420.11:c.994G>A (MSH6) MANE Select	ENSP00000234420.5:p.Glu332Lys
ENST00000540021.6:c.604G>A (MSH6)	ENSP00000446475.1:p.Glu202Lys
ENST00000652107.1:c.697G>A (MSH6)	ENSP00000498629.1:p.Glu233Lys
ENST00000673637.1:c.697G>A (MSH6)	ENSP00000501310.1:p.Glu233Lys
ENST00000234420.9:c.994G>A (MSH6)	ENSP00000234420.4:p.Glu332Lys
ENST00000405808.5:c.169+9218C>T (FBXO11)	ENSP00000385127.1:n.169+9218C>T
ENST00000434234.5:c.*124+9017C>T (FBXO11)	ENSP00000402692.1:n.*124+9017C>T
ENST00000445503.5:c.*341G>A (MSH6)	ENSP00000405294.1:n.*341G>A
ENST00000538136.1:c.88G>A (MSH6)	ENSP00000438580.1:p.Glu30Lys
ENST00000540021.5:c.604G>A (MSH6)	ENSP00000446475.1:p.Glu202Lys
ENST00000614496.4:c.88G>A (MSH6)	ENSP00000477844.1:p.Glu30Lys
ENST00000616033.4:c.991G>A (MSH6)	ENSP00000480261.1:p.Glu331Lys
ENST00000622629.4:c.-2103G>A (MSH6)	ENSP00000482078.1:n.-2103G>A
NM_000179.2:c.994G>A , LRG_219t1:c.994G>A (MSH6)	NP_000170.1:p.Glu332Lys
NM_001281492.1:c.604G>A (MSH6)	NP_001268421.1:p.Glu202Lys
NM_001281493.1:c.88G>A (MSH6)	NP_001268422.1:p.Glu30Lys
NM_001281494.1:c.88G>A (MSH6)	NP_001268423.1:p.Glu30Lys
XM_005264271.1:c.697G>A (MSH6)	XP_005264328.1:p.Glu233Lys
XM_011532798.1:c.811G>A (MSH6)	XP_011531100.1:p.Glu271Lys
XM_011532799.1:c.697G>A (MSH6)	XP_011531101.1:p.Glu233Lys
XM_011532800.1:c.697G>A (MSH6)	XP_011531102.1:p.Glu233Lys
XM_024452819.1:c.994G>A (MSH6)	XP_024308587.1:p.Glu332Lys
XM_024452820.1:c.811G>A (MSH6)	XP_024308588.1:p.Glu271Lys
XM_024452821.1:c.697G>A (MSH6)	XP_024308589.1:p.Glu233Lys
XM_024452822.1:c.88G>A (MSH6)	XP_024308590.1:p.Glu30Lys
NM_000179.3:c.994G>A (MSH6) MANE Select	NP_000170.1:p.Glu332Lys
NM_001281492.2:c.604G>A (MSH6)	NP_001268421.1:p.Glu202Lys
NM_001281493.2:c.88G>A (MSH6)	NP_001268422.1:p.Glu30Lys
NM_001281494.2:c.88G>A (MSH6)	NP_001268423.1:p.Glu30Lys