Canonical Allele Identifier: CA532705501

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs1390499004
• gnomAD v2: 2-48033542-G-T
• gnomAD v4: 2-47806403-G-T
• MyVariant Identifiers: chr2:g.48033542G>T (hg19) ; chr2:g.47806403G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806403G>T , CM000664.2:g.47806403G>T	GRCh38
NC_000002.11:g.48033542G>T , CM000664.1:g.48033542G>T	GRCh37
NC_000002.10:g.47887046G>T	NCBI36
NG_007111.1:g.28257G>T , LRG_219:g.28257G>T
NG_008397.1:g.104273C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3504+45G>T (MSH6)	ENSP00000406248.2:n.3504+45G>T
ENST00000420813.6:c.3504+45G>T (MSH6)	ENSP00000390382.2:n.3504+45G>T
ENST00000455383.6:c.3504+45G>T (MSH6)	ENSP00000397484.2:n.3504+45G>T
ENST00000700004.2:c.3417+45G>T (MSH6)	ENSP00000514752.2:n.3417+45G>T
ENST00000699999.1:n.4475+45G>T (MSH6)
ENST00000700000.1:c.2235+45G>T (MSH6)	ENSP00000514749.1:n.2235+45G>T
ENST00000700002.1:c.3807+45G>T (MSH6)	ENSP00000514750.1:n.3807+45G>T
ENST00000700003.1:c.1256+45G>T (MSH6)	ENSP00000514751.1:n.1256+45G>T
ENST00000700004.1:c.2574+45G>T (MSH6)	ENSP00000514752.1:n.2574+45G>T
ENST00000700005.1:n.2652+45G>T (MSH6)
ENST00000700006.1:n.4959+45G>T (MSH6)
ENST00000700007.1:n.2396+45G>T (MSH6)
ENST00000700008.1:n.2015G>T (MSH6)
ENST00000700009.1:n.2465+45G>T (MSH6)
ENST00000700010.1:n.1210+45G>T (MSH6)
ENST00000700011.1:n.3095+45G>T (MSH6)
ENST00000682451.1:n.4345C>A (FBXO11)
ENST00000684712.1:n.4607C>A (FBXO11)
ENST00000234420.11:c.3801+45G>T (MSH6) MANE Select	ENSP00000234420.5:n.3801+45G>T
ENST00000540021.6:c.3411+45G>T (MSH6)	ENSP00000446475.1:n.3411+45G>T
ENST00000652107.1:c.3504+45G>T (MSH6)	ENSP00000498629.1:n.3504+45G>T
ENST00000673637.1:c.3504+45G>T (MSH6)	ENSP00000501310.1:n.3504+45G>T
ENST00000234420.9:c.3801+45G>T (MSH6)	ENSP00000234420.4:n.3801+45G>T
ENST00000405808.5:c.169+1792C>A (FBXO11)	ENSP00000385127.1:n.169+1792C>A
ENST00000434234.5:c.*124+1591C>A (FBXO11)	ENSP00000402692.1:n.*124+1591C>A
ENST00000445503.5:c.*3148+45G>T (MSH6)	ENSP00000405294.1:n.*3148+45G>T
ENST00000538136.1:c.2895+45G>T (MSH6)	ENSP00000438580.1:n.2895+45G>T
ENST00000540021.5:c.3411+45G>T (MSH6)	ENSP00000446475.1:n.3411+45G>T
ENST00000614496.4:c.2895+45G>T (MSH6)	ENSP00000477844.1:n.2895+45G>T
ENST00000622629.4:c.702+45G>T (MSH6)	ENSP00000482078.1:n.702+45G>T
NM_000179.2:c.3801+45G>T , LRG_219t1:c.3801+45G>T (MSH6)	NP_000170.1:n.3801+45G>T
NM_001281492.1:c.3411+45G>T (MSH6)	NP_001268421.1:n.3411+45G>T
NM_001281493.1:c.2895+45G>T (MSH6)	NP_001268422.1:n.2895+45G>T
NM_001281494.1:c.2895+45G>T (MSH6)	NP_001268423.1:n.2895+45G>T
XM_005264271.1:c.3504+45G>T (MSH6)	XP_005264328.1:n.3504+45G>T
XM_011532798.1:c.3618+45G>T (MSH6)	XP_011531100.1:n.3618+45G>T
XM_011532799.1:c.3504+45G>T (MSH6)	XP_011531101.1:n.3504+45G>T
XM_011532800.1:c.3504+45G>T (MSH6)	XP_011531102.1:n.3504+45G>T
XM_024452819.1:c.3846G>T (MSH6)	XP_024308587.1:p.Arg1282Ser
XM_024452820.1:c.3663G>T (MSH6)	XP_024308588.1:p.Arg1221Ser
XM_024452821.1:c.3549G>T (MSH6)	XP_024308589.1:p.Arg1183Ser
XM_024452822.1:c.2940G>T (MSH6)	XP_024308590.1:p.Arg980Ser
NM_000179.3:c.3801+45G>T (MSH6) MANE Select	NP_000170.1:n.3801+45G>T
NM_001281492.2:c.3411+45G>T (MSH6)	NP_001268421.1:n.3411+45G>T
NM_001281493.2:c.2895+45G>T (MSH6)	NP_001268422.1:n.2895+45G>T
NM_001281494.2:c.2895+45G>T (MSH6)	NP_001268423.1:n.2895+45G>T