Canonical Allele Identifier: CA346761772

Gene: MSH6 FBXO11

Linked Data

• MyVariant Identifiers: chr2:g.48033995T>A (hg19) ; chr2:g.47806856T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806856T>A , CM000664.2:g.47806856T>A	GRCh38
NC_000002.11:g.48033995T>A , CM000664.1:g.48033995T>A	GRCh37
NC_000002.10:g.47887499T>A	NCBI36
NG_007111.1:g.28710T>A , LRG_219:g.28710T>A
NG_008397.1:g.103820A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3782T>A (MSH6)	ENSP00000406248.2:p.Leu1261Ter
ENST00000420813.6:c.3782T>A (MSH6)	ENSP00000390382.2:p.Leu1261Ter
ENST00000455383.6:c.3782T>A (MSH6)	ENSP00000397484.2:p.Leu1261Ter
ENST00000700004.2:c.3695T>A (MSH6)	ENSP00000514752.2:p.Leu1232Ter
ENST00000699999.1:n.4753T>A (MSH6)
ENST00000700000.1:c.2513T>A (MSH6)	ENSP00000514749.1:p.Leu838Ter
ENST00000700002.1:c.4085T>A (MSH6)	ENSP00000514750.1:p.Leu1362Ter
ENST00000700003.1:c.1534T>A (MSH6)	ENSP00000514751.1:n.1534T>A
ENST00000700004.1:c.2852T>A (MSH6)	ENSP00000514752.1:p.Leu951Ter
ENST00000700005.1:n.3057T>A (MSH6)
ENST00000700007.1:n.2674T>A (MSH6)
ENST00000700008.1:n.2341T>A (MSH6)
ENST00000700009.1:n.2743T>A (MSH6)
ENST00000700010.1:n.1488T>A (MSH6)
ENST00000700011.1:n.3373T>A (MSH6)
ENST00000682451.1:n.3892A>T (FBXO11)
ENST00000684712.1:n.4154A>T (FBXO11)
ENST00000234420.11:c.4079T>A (MSH6) MANE Select	ENSP00000234420.5:p.Leu1360Ter
ENST00000540021.6:c.3689T>A (MSH6)	ENSP00000446475.1:p.Leu1230Ter
ENST00000652107.1:c.3782T>A (MSH6)	ENSP00000498629.1:p.Leu1261Ter
ENST00000673637.1:c.3782T>A (MSH6)	ENSP00000501310.1:p.Leu1261Ter
ENST00000234420.9:c.4079T>A (MSH6)	ENSP00000234420.4:p.Leu1360Ter
ENST00000405808.5:c.169+1339A>T (FBXO11)	ENSP00000385127.1:n.169+1339A>T
ENST00000434234.5:c.*124+1138A>T (FBXO11)	ENSP00000402692.1:n.*124+1138A>T
ENST00000445503.5:c.*3426T>A (MSH6)	ENSP00000405294.1:n.*3426T>A
ENST00000465204.5:n.3054A>T (FBXO11)
ENST00000538136.1:c.3173T>A (MSH6)	ENSP00000438580.1:p.Leu1058Ter
ENST00000540021.5:c.3689T>A (MSH6)	ENSP00000446475.1:p.Leu1230Ter
ENST00000614496.4:c.3173T>A (MSH6)	ENSP00000477844.1:p.Leu1058Ter
ENST00000622629.4:c.980T>A (MSH6)	ENSP00000482078.1:p.Leu327Ter
NM_000179.2:c.4079T>A , LRG_219t1:c.4079T>A (MSH6)	NP_000170.1:p.Leu1360Ter
NM_001281492.1:c.3689T>A (MSH6)	NP_001268421.1:p.Leu1230Ter
NM_001281493.1:c.3173T>A (MSH6)	NP_001268422.1:p.Leu1058Ter
NM_001281494.1:c.3173T>A (MSH6)	NP_001268423.1:p.Leu1058Ter
XM_005264271.1:c.3782T>A (MSH6)	XP_005264328.1:p.Leu1261Ter
XM_011532798.1:c.3896T>A (MSH6)	XP_011531100.1:p.Leu1299Ter
XM_011532799.1:c.3782T>A (MSH6)	XP_011531101.1:p.Leu1261Ter
XM_011532800.1:c.3782T>A (MSH6)	XP_011531102.1:p.Leu1261Ter
XM_024452819.1:c.4172T>A (MSH6)	XP_024308587.1:p.Leu1391Ter
XM_024452820.1:c.3989T>A (MSH6)	XP_024308588.1:p.Leu1330Ter
XM_024452821.1:c.3875T>A (MSH6)	XP_024308589.1:p.Leu1292Ter
XM_024452822.1:c.3266T>A (MSH6)	XP_024308590.1:p.Leu1089Ter
NM_000179.3:c.4079T>A (MSH6) MANE Select	NP_000170.1:p.Leu1360Ter
NM_001281492.2:c.3689T>A (MSH6)	NP_001268421.1:p.Leu1230Ter
NM_001281493.2:c.3173T>A (MSH6)	NP_001268422.1:p.Leu1058Ter
NM_001281494.2:c.3173T>A (MSH6)	NP_001268423.1:p.Leu1058Ter