Canonical Allele Identifier: CA346740625

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1942241
• ClinVar RCV Id: RCV002653757
• MyVariant Identifiers: chr2:g.48025991T>A (hg19) ; chr2:g.47798852T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798852T>A , CM000664.2:g.47798852T>A	GRCh38
NC_000002.11:g.48025991T>A , CM000664.1:g.48025991T>A	GRCh37
NC_000002.10:g.47879495T>A	NCBI36
NG_007111.1:g.20706T>A , LRG_219:g.20706T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.572T>A (MSH6)	ENSP00000406248.2:p.Leu191Gln
ENST00000420813.6:c.572T>A (MSH6)	ENSP00000390382.2:p.Leu191Gln
ENST00000455383.6:c.572T>A (MSH6)	ENSP00000397484.2:p.Leu191Gln
ENST00000700004.2:c.869T>A (MSH6)	ENSP00000514752.2:p.Leu290Gln
ENST00000699999.1:n.953T>A (MSH6)
ENST00000700000.1:c.869T>A (MSH6)	ENSP00000514749.1:p.Leu290Gln
ENST00000700002.1:c.875T>A (MSH6)	ENSP00000514750.1:p.Leu292Gln
ENST00000700003.1:c.627+2789T>A (MSH6)	ENSP00000514751.1:n.627+2789T>A
ENST00000700004.1:c.26T>A (MSH6)	ENSP00000514752.1:p.Leu9Gln
ENST00000234420.11:c.869T>A (MSH6) MANE Select	ENSP00000234420.5:p.Leu290Gln
ENST00000540021.6:c.479T>A (MSH6)	ENSP00000446475.1:p.Leu160Gln
ENST00000652107.1:c.572T>A (MSH6)	ENSP00000498629.1:p.Leu191Gln
ENST00000673637.1:c.572T>A (MSH6)	ENSP00000501310.1:p.Leu191Gln
ENST00000234420.9:c.869T>A (MSH6)	ENSP00000234420.4:p.Leu290Gln
ENST00000405808.5:c.169+9343A>T (FBXO11)	ENSP00000385127.1:n.169+9343A>T
ENST00000434234.5:c.*124+9142A>T (FBXO11)	ENSP00000402692.1:n.*124+9142A>T
ENST00000445503.5:c.*216T>A (MSH6)	ENSP00000405294.1:n.*216T>A
ENST00000456246.1:c.*357T>A (MSH6)	ENSP00000410570.1:n.*357T>A
ENST00000538136.1:c.-38T>A (MSH6)	ENSP00000438580.1:n.-38T>A
ENST00000540021.5:c.479T>A (MSH6)	ENSP00000446475.1:p.Leu160Gln
ENST00000614496.4:c.-38T>A (MSH6)	ENSP00000477844.1:n.-38T>A
ENST00000616033.4:c.866T>A (MSH6)	ENSP00000480261.1:p.Leu289Gln
ENST00000622629.4:c.-2228T>A (MSH6)	ENSP00000482078.1:n.-2228T>A
NM_000179.2:c.869T>A , LRG_219t1:c.869T>A (MSH6)	NP_000170.1:p.Leu290Gln
NM_001281492.1:c.479T>A (MSH6)	NP_001268421.1:p.Leu160Gln
NM_001281493.1:c.-38T>A (MSH6)	NP_001268422.1:n.-38T>A
NM_001281494.1:c.-38T>A (MSH6)	NP_001268423.1:n.-38T>A
XM_005264271.1:c.572T>A (MSH6)	XP_005264328.1:p.Leu191Gln
XM_011532798.1:c.686T>A (MSH6)	XP_011531100.1:p.Leu229Gln
XM_011532799.1:c.572T>A (MSH6)	XP_011531101.1:p.Leu191Gln
XM_011532800.1:c.572T>A (MSH6)	XP_011531102.1:p.Leu191Gln
XM_024452819.1:c.869T>A (MSH6)	XP_024308587.1:p.Leu290Gln
XM_024452820.1:c.686T>A (MSH6)	XP_024308588.1:p.Leu229Gln
XM_024452821.1:c.572T>A (MSH6)	XP_024308589.1:p.Leu191Gln
XM_024452822.1:c.-38T>A (MSH6)	XP_024308590.1:n.-38T>A
NM_000179.3:c.869T>A (MSH6) MANE Select	NP_000170.1:p.Leu290Gln
NM_001281492.2:c.479T>A (MSH6)	NP_001268421.1:p.Leu160Gln
NM_001281493.2:c.-38T>A (MSH6)	NP_001268422.1:n.-38T>A
NM_001281494.2:c.-38T>A (MSH6)	NP_001268423.1:n.-38T>A