Canonical Allele Identifier: CA346761673

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs863225420
• MyVariant Identifiers: chr2:g.48033944C>T (hg19) ; chr2:g.47806805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806805C>T , CM000664.2:g.47806805C>T	GRCh38
NC_000002.11:g.48033944C>T , CM000664.1:g.48033944C>T	GRCh37
NC_000002.10:g.47887448C>T	NCBI36
NG_007111.1:g.28659C>T , LRG_219:g.28659C>T
NG_008397.1:g.103871G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3731C>T (MSH6)	ENSP00000406248.2:p.Ser1244Leu
ENST00000420813.6:c.3731C>T (MSH6)	ENSP00000390382.2:p.Ser1244Leu
ENST00000455383.6:c.3731C>T (MSH6)	ENSP00000397484.2:p.Ser1244Leu
ENST00000700004.2:c.3644C>T (MSH6)	ENSP00000514752.2:p.Ser1215Leu
ENST00000699999.1:n.4702C>T (MSH6)
ENST00000700000.1:c.2462C>T (MSH6)	ENSP00000514749.1:p.Ser821Leu
ENST00000700002.1:c.4034C>T (MSH6)	ENSP00000514750.1:p.Ser1345Leu
ENST00000700003.1:c.1483C>T (MSH6)	ENSP00000514751.1:n.1483C>T
ENST00000700004.1:c.2801C>T (MSH6)	ENSP00000514752.1:p.Ser934Leu
ENST00000700005.1:n.3006C>T (MSH6)
ENST00000700007.1:n.2623C>T (MSH6)
ENST00000700008.1:n.2290C>T (MSH6)
ENST00000700009.1:n.2692C>T (MSH6)
ENST00000700010.1:n.1437C>T (MSH6)
ENST00000700011.1:n.3322C>T (MSH6)
ENST00000682451.1:n.3943G>A (FBXO11)
ENST00000684712.1:n.4205G>A (FBXO11)
ENST00000234420.11:c.4028C>T (MSH6) MANE Select	ENSP00000234420.5:p.Ser1343Leu
ENST00000540021.6:c.3638C>T (MSH6)	ENSP00000446475.1:p.Ser1213Leu
ENST00000652107.1:c.3731C>T (MSH6)	ENSP00000498629.1:p.Ser1244Leu
ENST00000673637.1:c.3731C>T (MSH6)	ENSP00000501310.1:p.Ser1244Leu
ENST00000234420.9:c.4028C>T (MSH6)	ENSP00000234420.4:p.Ser1343Leu
ENST00000405808.5:c.169+1390G>A (FBXO11)	ENSP00000385127.1:n.169+1390G>A
ENST00000434234.5:c.*124+1189G>A (FBXO11)	ENSP00000402692.1:n.*124+1189G>A
ENST00000445503.5:c.*3375C>T (MSH6)	ENSP00000405294.1:n.*3375C>T
ENST00000465204.5:n.3105G>A (FBXO11)
ENST00000538136.1:c.3122C>T (MSH6)	ENSP00000438580.1:p.Ser1041Leu
ENST00000540021.5:c.3638C>T (MSH6)	ENSP00000446475.1:p.Ser1213Leu
ENST00000614496.4:c.3122C>T (MSH6)	ENSP00000477844.1:p.Ser1041Leu
ENST00000622629.4:c.929C>T (MSH6)	ENSP00000482078.1:p.Ser310Leu
NM_000179.2:c.4028C>T , LRG_219t1:c.4028C>T (MSH6)	NP_000170.1:p.Ser1343Leu
NM_001281492.1:c.3638C>T (MSH6)	NP_001268421.1:p.Ser1213Leu
NM_001281493.1:c.3122C>T (MSH6)	NP_001268422.1:p.Ser1041Leu
NM_001281494.1:c.3122C>T (MSH6)	NP_001268423.1:p.Ser1041Leu
XM_005264271.1:c.3731C>T (MSH6)	XP_005264328.1:p.Ser1244Leu
XM_011532798.1:c.3845C>T (MSH6)	XP_011531100.1:p.Ser1282Leu
XM_011532799.1:c.3731C>T (MSH6)	XP_011531101.1:p.Ser1244Leu
XM_011532800.1:c.3731C>T (MSH6)	XP_011531102.1:p.Ser1244Leu
XM_024452819.1:c.4121C>T (MSH6)	XP_024308587.1:p.Ser1374Leu
XM_024452820.1:c.3938C>T (MSH6)	XP_024308588.1:p.Ser1313Leu
XM_024452821.1:c.3824C>T (MSH6)	XP_024308589.1:p.Ser1275Leu
XM_024452822.1:c.3215C>T (MSH6)	XP_024308590.1:p.Ser1072Leu
NM_000179.3:c.4028C>T (MSH6) MANE Select	NP_000170.1:p.Ser1343Leu
NM_001281492.2:c.3638C>T (MSH6)	NP_001268421.1:p.Ser1213Leu
NM_001281493.2:c.3122C>T (MSH6)	NP_001268422.1:p.Ser1041Leu
NM_001281494.2:c.3122C>T (MSH6)	NP_001268423.1:p.Ser1041Leu