Canonical Allele Identifier: CA014244

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89459
• ClinVar RCV Id: RCV000074927 ; RCV003593872
• dbSNP Id: rs63750554
• MyVariant Identifiers: chr2:g.48033468C>T (hg19) ; chr2:g.47806329C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806329C>T , CM000664.2:g.47806329C>T	GRCh38
NC_000002.11:g.48033468C>T , CM000664.1:g.48033468C>T	GRCh37
NC_000002.10:g.47886972C>T	NCBI36
NG_007111.1:g.28183C>T , LRG_219:g.28183C>T
NG_008397.1:g.104347G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3475C>T (MSH6)	ENSP00000406248.2:p.Gln1159Ter
ENST00000420813.6:c.3475C>T (MSH6)	ENSP00000390382.2:p.Gln1159Ter
ENST00000455383.6:c.3475C>T (MSH6)	ENSP00000397484.2:p.Gln1159Ter
ENST00000700004.2:c.3388C>T (MSH6)	ENSP00000514752.2:p.Gln1130Ter
ENST00000699999.1:n.4446C>T (MSH6)
ENST00000700000.1:c.2206C>T (MSH6)	ENSP00000514749.1:p.Gln736Ter
ENST00000700002.1:c.3778C>T (MSH6)	ENSP00000514750.1:p.Gln1260Ter
ENST00000700003.1:c.1227C>T (MSH6)	ENSP00000514751.1:n.1227C>T
ENST00000700004.1:c.2545C>T (MSH6)	ENSP00000514752.1:p.Gln849Ter
ENST00000700005.1:n.2623C>T (MSH6)
ENST00000700006.1:n.4930C>T (MSH6)
ENST00000700007.1:n.2367C>T (MSH6)
ENST00000700008.1:n.1941C>T (MSH6)
ENST00000700009.1:n.2436C>T (MSH6)
ENST00000700010.1:n.1181C>T (MSH6)
ENST00000700011.1:n.3066C>T (MSH6)
ENST00000682451.1:n.4419G>A (FBXO11)
ENST00000684712.1:n.4681G>A (FBXO11)
ENST00000234420.11:c.3772C>T (MSH6) MANE Select	ENSP00000234420.5:p.Gln1258Ter
ENST00000540021.6:c.3382C>T (MSH6)	ENSP00000446475.1:p.Gln1128Ter
ENST00000652107.1:c.3475C>T (MSH6)	ENSP00000498629.1:p.Gln1159Ter
ENST00000673637.1:c.3475C>T (MSH6)	ENSP00000501310.1:p.Gln1159Ter
ENST00000234420.9:c.3772C>T (MSH6)	ENSP00000234420.4:p.Gln1258Ter
ENST00000405808.5:c.169+1866G>A (FBXO11)	ENSP00000385127.1:n.169+1866G>A
ENST00000434234.5:c.*124+1665G>A (FBXO11)	ENSP00000402692.1:n.*124+1665G>A
ENST00000445503.5:c.*3119C>T (MSH6)	ENSP00000405294.1:n.*3119C>T
ENST00000538136.1:c.2866C>T (MSH6)	ENSP00000438580.1:p.Gln956Ter
ENST00000540021.5:c.3382C>T (MSH6)	ENSP00000446475.1:p.Gln1128Ter
ENST00000614496.4:c.2866C>T (MSH6)	ENSP00000477844.1:p.Gln956Ter
ENST00000622629.4:c.674C>T (MSH6)	ENSP00000482078.1:p.Ser225Leu
NM_000179.2:c.3772C>T , LRG_219t1:c.3772C>T (MSH6)	NP_000170.1:p.Gln1258Ter
NM_001281492.1:c.3382C>T (MSH6)	NP_001268421.1:p.Gln1128Ter
NM_001281493.1:c.2866C>T (MSH6)	NP_001268422.1:p.Gln956Ter
NM_001281494.1:c.2866C>T (MSH6)	NP_001268423.1:p.Gln956Ter
XM_005264271.1:c.3475C>T (MSH6)	XP_005264328.1:p.Gln1159Ter
XM_011532798.1:c.3589C>T (MSH6)	XP_011531100.1:p.Gln1197Ter
XM_011532799.1:c.3475C>T (MSH6)	XP_011531101.1:p.Gln1159Ter
XM_011532800.1:c.3475C>T (MSH6)	XP_011531102.1:p.Gln1159Ter
XM_024452819.1:c.3772C>T (MSH6)	XP_024308587.1:p.Gln1258Ter
XM_024452820.1:c.3589C>T (MSH6)	XP_024308588.1:p.Gln1197Ter
XM_024452821.1:c.3475C>T (MSH6)	XP_024308589.1:p.Gln1159Ter
XM_024452822.1:c.2866C>T (MSH6)	XP_024308590.1:p.Gln956Ter
NM_000179.3:c.3772C>T (MSH6) MANE Select	NP_000170.1:p.Gln1258Ter
NM_001281492.2:c.3382C>T (MSH6)	NP_001268421.1:p.Gln1128Ter
NM_001281493.2:c.2866C>T (MSH6)	NP_001268422.1:p.Gln956Ter
NM_001281494.2:c.2866C>T (MSH6)	NP_001268423.1:p.Gln956Ter