Canonical Allele Identifier: CA346761722

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs2104583508
• MyVariant Identifiers: chr2:g.48033969T>G (hg19) ; chr2:g.47806830T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806830T>G , CM000664.2:g.47806830T>G	GRCh38
NC_000002.11:g.48033969T>G , CM000664.1:g.48033969T>G	GRCh37
NC_000002.10:g.47887473T>G	NCBI36
NG_007111.1:g.28684T>G , LRG_219:g.28684T>G
NG_008397.1:g.103846A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3756T>G (MSH6)	ENSP00000406248.2:p.His1252Gln
ENST00000420813.6:c.3756T>G (MSH6)	ENSP00000390382.2:p.His1252Gln
ENST00000455383.6:c.3756T>G (MSH6)	ENSP00000397484.2:p.His1252Gln
ENST00000700004.2:c.3669T>G (MSH6)	ENSP00000514752.2:p.His1223Gln
ENST00000699999.1:n.4727T>G (MSH6)
ENST00000700000.1:c.2487T>G (MSH6)	ENSP00000514749.1:p.His829Gln
ENST00000700002.1:c.4059T>G (MSH6)	ENSP00000514750.1:p.His1353Gln
ENST00000700003.1:c.1508T>G (MSH6)	ENSP00000514751.1:n.1508T>G
ENST00000700004.1:c.2826T>G (MSH6)	ENSP00000514752.1:p.His942Gln
ENST00000700005.1:n.3031T>G (MSH6)
ENST00000700007.1:n.2648T>G (MSH6)
ENST00000700008.1:n.2315T>G (MSH6)
ENST00000700009.1:n.2717T>G (MSH6)
ENST00000700010.1:n.1462T>G (MSH6)
ENST00000700011.1:n.3347T>G (MSH6)
ENST00000682451.1:n.3918A>C (FBXO11)
ENST00000684712.1:n.4180A>C (FBXO11)
ENST00000234420.11:c.4053T>G (MSH6) MANE Select	ENSP00000234420.5:p.His1351Gln
ENST00000540021.6:c.3663T>G (MSH6)	ENSP00000446475.1:p.His1221Gln
ENST00000652107.1:c.3756T>G (MSH6)	ENSP00000498629.1:p.His1252Gln
ENST00000673637.1:c.3756T>G (MSH6)	ENSP00000501310.1:p.His1252Gln
ENST00000234420.9:c.4053T>G (MSH6)	ENSP00000234420.4:p.His1351Gln
ENST00000405808.5:c.169+1365A>C (FBXO11)	ENSP00000385127.1:n.169+1365A>C
ENST00000434234.5:c.*124+1164A>C (FBXO11)	ENSP00000402692.1:n.*124+1164A>C
ENST00000445503.5:c.*3400T>G (MSH6)	ENSP00000405294.1:n.*3400T>G
ENST00000465204.5:n.3080A>C (FBXO11)
ENST00000538136.1:c.3147T>G (MSH6)	ENSP00000438580.1:p.His1049Gln
ENST00000540021.5:c.3663T>G (MSH6)	ENSP00000446475.1:p.His1221Gln
ENST00000614496.4:c.3147T>G (MSH6)	ENSP00000477844.1:p.His1049Gln
ENST00000622629.4:c.954T>G (MSH6)	ENSP00000482078.1:p.His318Gln
NM_000179.2:c.4053T>G , LRG_219t1:c.4053T>G (MSH6)	NP_000170.1:p.His1351Gln
NM_001281492.1:c.3663T>G (MSH6)	NP_001268421.1:p.His1221Gln
NM_001281493.1:c.3147T>G (MSH6)	NP_001268422.1:p.His1049Gln
NM_001281494.1:c.3147T>G (MSH6)	NP_001268423.1:p.His1049Gln
XM_005264271.1:c.3756T>G (MSH6)	XP_005264328.1:p.His1252Gln
XM_011532798.1:c.3870T>G (MSH6)	XP_011531100.1:p.His1290Gln
XM_011532799.1:c.3756T>G (MSH6)	XP_011531101.1:p.His1252Gln
XM_011532800.1:c.3756T>G (MSH6)	XP_011531102.1:p.His1252Gln
XM_024452819.1:c.4146T>G (MSH6)	XP_024308587.1:p.His1382Gln
XM_024452820.1:c.3963T>G (MSH6)	XP_024308588.1:p.His1321Gln
XM_024452821.1:c.3849T>G (MSH6)	XP_024308589.1:p.His1283Gln
XM_024452822.1:c.3240T>G (MSH6)	XP_024308590.1:p.His1080Gln
NM_000179.3:c.4053T>G (MSH6) MANE Select	NP_000170.1:p.His1351Gln
NM_001281492.2:c.3663T>G (MSH6)	NP_001268421.1:p.His1221Gln
NM_001281493.2:c.3147T>G (MSH6)	NP_001268422.1:p.His1049Gln
NM_001281494.2:c.3147T>G (MSH6)	NP_001268423.1:p.His1049Gln