Canonical Allele Identifier: CA426122217

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 695451
• ClinVar RCV Id: RCV000861113 ; RCV001021586 ; RCV001576739
• dbSNP Id: rs1306342101
• gnomAD v3: 2-47806637-A-T
• gnomAD v4: 2-47806637-A-T
• MyVariant Identifiers: chr2:g.48033776A>T (hg19) ; chr2:g.47806637A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806637A>T , CM000664.2:g.47806637A>T	GRCh38
NC_000002.11:g.48033776A>T , CM000664.1:g.48033776A>T	GRCh37
NC_000002.10:g.47887280A>T	NCBI36
NG_007111.1:g.28491A>T , LRG_219:g.28491A>T
NG_008397.1:g.104039T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3690A>T (MSH6)	ENSP00000406248.2:p.Ser1230=
ENST00000420813.6:c.3690A>T (MSH6)	ENSP00000390382.2:p.Ser1230=
ENST00000455383.6:c.3690A>T (MSH6)	ENSP00000397484.2:p.Ser1230=
ENST00000700004.2:c.3603A>T (MSH6)	ENSP00000514752.2:p.Ser1201=
ENST00000699999.1:n.4661A>T (MSH6)
ENST00000700000.1:c.2421A>T (MSH6)	ENSP00000514749.1:p.Ser807=
ENST00000700002.1:c.3993A>T (MSH6)	ENSP00000514750.1:p.Ser1331=
ENST00000700003.1:c.1442A>T (MSH6)	ENSP00000514751.1:n.1442A>T
ENST00000700004.1:c.2760A>T (MSH6)	ENSP00000514752.1:p.Ser920=
ENST00000700005.1:n.2838A>T (MSH6)
ENST00000700006.1:n.5145A>T (MSH6)
ENST00000700007.1:n.2582A>T (MSH6)
ENST00000700008.1:n.2249A>T (MSH6)
ENST00000700009.1:n.2651A>T (MSH6)
ENST00000700010.1:n.1396A>T (MSH6)
ENST00000700011.1:n.3281A>T (MSH6)
ENST00000682451.1:n.4111T>A (FBXO11)
ENST00000684712.1:n.4373T>A (FBXO11)
ENST00000234420.11:c.3987A>T (MSH6) MANE Select	ENSP00000234420.5:p.Ser1329=
ENST00000540021.6:c.3597A>T (MSH6)	ENSP00000446475.1:p.Ser1199=
ENST00000652107.1:c.3690A>T (MSH6)	ENSP00000498629.1:p.Ser1230=
ENST00000673637.1:c.3690A>T (MSH6)	ENSP00000501310.1:p.Ser1230=
ENST00000234420.9:c.3987A>T (MSH6)	ENSP00000234420.4:p.Ser1329=
ENST00000405808.5:c.169+1558T>A (FBXO11)	ENSP00000385127.1:n.169+1558T>A
ENST00000434234.5:c.*124+1357T>A (FBXO11)	ENSP00000402692.1:n.*124+1357T>A
ENST00000445503.5:c.*3334A>T (MSH6)	ENSP00000405294.1:n.*3334A>T
ENST00000538136.1:c.3081A>T (MSH6)	ENSP00000438580.1:p.Ser1027=
ENST00000540021.5:c.3597A>T (MSH6)	ENSP00000446475.1:p.Ser1199=
ENST00000614496.4:c.3081A>T (MSH6)	ENSP00000477844.1:p.Ser1027=
ENST00000622629.4:c.888A>T (MSH6)	ENSP00000482078.1:p.Ser296=
NM_000179.2:c.3987A>T , LRG_219t1:c.3987A>T (MSH6)	NP_000170.1:p.Ser1329=
NM_001281492.1:c.3597A>T (MSH6)	NP_001268421.1:p.Ser1199=
NM_001281493.1:c.3081A>T (MSH6)	NP_001268422.1:p.Ser1027=
NM_001281494.1:c.3081A>T (MSH6)	NP_001268423.1:p.Ser1027=
XM_005264271.1:c.3690A>T (MSH6)	XP_005264328.1:p.Ser1230=
XM_011532798.1:c.3804A>T (MSH6)	XP_011531100.1:p.Ser1268=
XM_011532799.1:c.3690A>T (MSH6)	XP_011531101.1:p.Ser1230=
XM_011532800.1:c.3690A>T (MSH6)	XP_011531102.1:p.Ser1230=
XM_024452819.1:c.4080A>T (MSH6)	XP_024308587.1:p.Ser1360=
XM_024452820.1:c.3897A>T (MSH6)	XP_024308588.1:p.Ser1299=
XM_024452821.1:c.3783A>T (MSH6)	XP_024308589.1:p.Ser1261=
XM_024452822.1:c.3174A>T (MSH6)	XP_024308590.1:p.Ser1058=
NM_000179.3:c.3987A>T (MSH6) MANE Select	NP_000170.1:p.Ser1329=
NM_001281492.2:c.3597A>T (MSH6)	NP_001268421.1:p.Ser1199=
NM_001281493.2:c.3081A>T (MSH6)	NP_001268422.1:p.Ser1027=
NM_001281494.2:c.3081A>T (MSH6)	NP_001268423.1:p.Ser1027=