Canonical Allele Identifier: CA014495

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89472
• ClinVar RCV Id: RCV000074940 ; RCV000603416 ; RCV001229855 ; RCV001723643 ; RCV002362701
• dbSNP Id: rs63750139
• MyVariant Identifiers: chr2:g.48033627C>T (hg19) ; chr2:g.47806488C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806488C>T , CM000664.2:g.47806488C>T	GRCh38
NC_000002.11:g.48033627C>T , CM000664.1:g.48033627C>T	GRCh37
NC_000002.10:g.47887131C>T	NCBI36
NG_007111.1:g.28342C>T , LRG_219:g.28342C>T
NG_008397.1:g.104188G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3541C>T (MSH6)	ENSP00000406248.2:p.Gln1181Ter
ENST00000420813.6:c.3541C>T (MSH6)	ENSP00000390382.2:p.Gln1181Ter
ENST00000455383.6:c.3541C>T (MSH6)	ENSP00000397484.2:p.Gln1181Ter
ENST00000700004.2:c.3454C>T (MSH6)	ENSP00000514752.2:p.Gln1152Ter
ENST00000699999.1:n.4512C>T (MSH6)
ENST00000700000.1:c.2272C>T (MSH6)	ENSP00000514749.1:p.Gln758Ter
ENST00000700002.1:c.3844C>T (MSH6)	ENSP00000514750.1:p.Gln1282Ter
ENST00000700003.1:c.1293C>T (MSH6)	ENSP00000514751.1:n.1293C>T
ENST00000700004.1:c.2611C>T (MSH6)	ENSP00000514752.1:p.Gln871Ter
ENST00000700005.1:n.2689C>T (MSH6)
ENST00000700006.1:n.4996C>T (MSH6)
ENST00000700007.1:n.2433C>T (MSH6)
ENST00000700008.1:n.2100C>T (MSH6)
ENST00000700009.1:n.2502C>T (MSH6)
ENST00000700010.1:n.1247C>T (MSH6)
ENST00000700011.1:n.3132C>T (MSH6)
ENST00000682451.1:n.4260G>A (FBXO11)
ENST00000684712.1:n.4522G>A (FBXO11)
ENST00000234420.11:c.3838C>T (MSH6) MANE Select	ENSP00000234420.5:p.Gln1280Ter
ENST00000540021.6:c.3448C>T (MSH6)	ENSP00000446475.1:p.Gln1150Ter
ENST00000652107.1:c.3541C>T (MSH6)	ENSP00000498629.1:p.Gln1181Ter
ENST00000673637.1:c.3541C>T (MSH6)	ENSP00000501310.1:p.Gln1181Ter
ENST00000234420.9:c.3838C>T (MSH6)	ENSP00000234420.4:p.Gln1280Ter
ENST00000405808.5:c.169+1707G>A (FBXO11)	ENSP00000385127.1:n.169+1707G>A
ENST00000434234.5:c.*124+1506G>A (FBXO11)	ENSP00000402692.1:n.*124+1506G>A
ENST00000445503.5:c.*3185C>T (MSH6)	ENSP00000405294.1:n.*3185C>T
ENST00000538136.1:c.2932C>T (MSH6)	ENSP00000438580.1:p.Gln978Ter
ENST00000540021.5:c.3448C>T (MSH6)	ENSP00000446475.1:p.Gln1150Ter
ENST00000614496.4:c.2932C>T (MSH6)	ENSP00000477844.1:p.Gln978Ter
ENST00000622629.4:c.739C>T (MSH6)	ENSP00000482078.1:p.Gln247Ter
NM_000179.2:c.3838C>T , LRG_219t1:c.3838C>T (MSH6)	NP_000170.1:p.Gln1280Ter
NM_001281492.1:c.3448C>T (MSH6)	NP_001268421.1:p.Gln1150Ter
NM_001281493.1:c.2932C>T (MSH6)	NP_001268422.1:p.Gln978Ter
NM_001281494.1:c.2932C>T (MSH6)	NP_001268423.1:p.Gln978Ter
XM_005264271.1:c.3541C>T (MSH6)	XP_005264328.1:p.Gln1181Ter
XM_011532798.1:c.3655C>T (MSH6)	XP_011531100.1:p.Gln1219Ter
XM_011532799.1:c.3541C>T (MSH6)	XP_011531101.1:p.Gln1181Ter
XM_011532800.1:c.3541C>T (MSH6)	XP_011531102.1:p.Gln1181Ter
XM_024452819.1:c.3931C>T (MSH6)	XP_024308587.1:p.Gln1311Ter
XM_024452820.1:c.3748C>T (MSH6)	XP_024308588.1:p.Gln1250Ter
XM_024452821.1:c.3634C>T (MSH6)	XP_024308589.1:p.Gln1212Ter
XM_024452822.1:c.3025C>T (MSH6)	XP_024308590.1:p.Gln1009Ter
NM_000179.3:c.3838C>T (MSH6) MANE Select	NP_000170.1:p.Gln1280Ter
NM_001281492.2:c.3448C>T (MSH6)	NP_001268421.1:p.Gln1150Ter
NM_001281493.2:c.2932C>T (MSH6)	NP_001268422.1:p.Gln978Ter
NM_001281494.2:c.2932C>T (MSH6)	NP_001268423.1:p.Gln978Ter