Canonical Allele Identifier: CA346740336

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 939409
• ClinVar RCV Id: RCV001208808 ; RCV002418703
• dbSNP Id: rs1553412217
• MyVariant Identifiers: chr2:g.48025924G>T (hg19) ; chr2:g.47798785G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798785G>T , CM000664.2:g.47798785G>T	GRCh38
NC_000002.11:g.48025924G>T , CM000664.1:g.48025924G>T	GRCh37
NC_000002.10:g.47879428G>T	NCBI36
NG_007111.1:g.20639G>T , LRG_219:g.20639G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.505G>T (MSH6)	ENSP00000406248.2:p.Asp169Tyr
ENST00000420813.6:c.505G>T (MSH6)	ENSP00000390382.2:p.Asp169Tyr
ENST00000455383.6:c.505G>T (MSH6)	ENSP00000397484.2:p.Asp169Tyr
ENST00000700004.2:c.802G>T (MSH6)	ENSP00000514752.2:p.Asp268Tyr
ENST00000699999.1:n.886G>T (MSH6)
ENST00000700000.1:c.802G>T (MSH6)	ENSP00000514749.1:p.Asp268Tyr
ENST00000700002.1:c.808G>T (MSH6)	ENSP00000514750.1:p.Asp270Tyr
ENST00000700003.1:c.627+2722G>T (MSH6)	ENSP00000514751.1:n.627+2722G>T
ENST00000234420.11:c.802G>T (MSH6) MANE Select	ENSP00000234420.5:p.Asp268Tyr
ENST00000540021.6:c.412G>T (MSH6)	ENSP00000446475.1:p.Asp138Tyr
ENST00000652107.1:c.505G>T (MSH6)	ENSP00000498629.1:p.Asp169Tyr
ENST00000673637.1:c.505G>T (MSH6)	ENSP00000501310.1:p.Asp169Tyr
ENST00000673922.1:n.524G>T (MSH6)
ENST00000234420.9:c.802G>T (MSH6)	ENSP00000234420.4:p.Asp268Tyr
ENST00000405808.5:c.170-9345C>A (FBXO11)	ENSP00000385127.1:n.170-9345C>A
ENST00000434234.5:c.*124+9209C>A (FBXO11)	ENSP00000402692.1:n.*124+9209C>A
ENST00000445503.5:c.*149G>T (MSH6)	ENSP00000405294.1:n.*149G>T
ENST00000456246.1:c.*290G>T (MSH6)	ENSP00000410570.1:n.*290G>T
ENST00000538136.1:c.-105G>T (MSH6)	ENSP00000438580.1:n.-105G>T
ENST00000540021.5:c.412G>T (MSH6)	ENSP00000446475.1:p.Asp138Tyr
ENST00000614496.4:c.-105G>T (MSH6)	ENSP00000477844.1:n.-105G>T
ENST00000616033.4:c.799G>T (MSH6)	ENSP00000480261.1:p.Asp267Tyr
ENST00000622629.4:c.-2295G>T (MSH6)	ENSP00000482078.1:n.-2295G>T
NM_000179.2:c.802G>T , LRG_219t1:c.802G>T (MSH6)	NP_000170.1:p.Asp268Tyr
NM_001281492.1:c.412G>T (MSH6)	NP_001268421.1:p.Asp138Tyr
NM_001281493.1:c.-105G>T (MSH6)	NP_001268422.1:n.-105G>T
NM_001281494.1:c.-105G>T (MSH6)	NP_001268423.1:n.-105G>T
XM_005264271.1:c.505G>T (MSH6)	XP_005264328.1:p.Asp169Tyr
XM_011532798.1:c.619G>T (MSH6)	XP_011531100.1:p.Asp207Tyr
XM_011532799.1:c.505G>T (MSH6)	XP_011531101.1:p.Asp169Tyr
XM_011532800.1:c.505G>T (MSH6)	XP_011531102.1:p.Asp169Tyr
XM_024452819.1:c.802G>T (MSH6)	XP_024308587.1:p.Asp268Tyr
XM_024452820.1:c.619G>T (MSH6)	XP_024308588.1:p.Asp207Tyr
XM_024452821.1:c.505G>T (MSH6)	XP_024308589.1:p.Asp169Tyr
XM_024452822.1:c.-105G>T (MSH6)	XP_024308590.1:n.-105G>T
NM_000179.3:c.802G>T (MSH6) MANE Select	NP_000170.1:p.Asp268Tyr
NM_001281492.2:c.412G>T (MSH6)	NP_001268421.1:p.Asp138Tyr
NM_001281493.2:c.-105G>T (MSH6)	NP_001268422.1:n.-105G>T
NM_001281494.2:c.-105G>T (MSH6)	NP_001268423.1:n.-105G>T