Canonical Allele Identifier: CA346760937

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs2104539037
• gnomAD v4: 2-47806245-G-A
• MyVariant Identifiers: chr2:g.48033384G>A (hg19) ; chr2:g.47806245G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806245G>A , CM000664.2:g.47806245G>A	GRCh38
NC_000002.11:g.48033384G>A , CM000664.1:g.48033384G>A	GRCh37
NC_000002.10:g.47886888G>A	NCBI36
NG_007111.1:g.28099G>A , LRG_219:g.28099G>A
NG_008397.1:g.104431C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3391G>A (MSH6)	ENSP00000406248.2:p.Ala1131Thr
ENST00000420813.6:c.3391G>A (MSH6)	ENSP00000390382.2:p.Ala1131Thr
ENST00000455383.6:c.3391G>A (MSH6)	ENSP00000397484.2:p.Ala1131Thr
ENST00000700004.2:c.3304G>A (MSH6)	ENSP00000514752.2:p.Ala1102Thr
ENST00000699999.1:n.4362G>A (MSH6)
ENST00000700000.1:c.2122G>A (MSH6)	ENSP00000514749.1:p.Ala708Thr
ENST00000700002.1:c.3694G>A (MSH6)	ENSP00000514750.1:p.Ala1232Thr
ENST00000700003.1:c.1143G>A (MSH6)	ENSP00000514751.1:n.1143G>A
ENST00000700004.1:c.2461G>A (MSH6)	ENSP00000514752.1:p.Ala821Thr
ENST00000700005.1:n.2539G>A (MSH6)
ENST00000700006.1:n.4846G>A (MSH6)
ENST00000700007.1:n.2283G>A (MSH6)
ENST00000700008.1:n.1857G>A (MSH6)
ENST00000700009.1:n.2352G>A (MSH6)
ENST00000700010.1:n.1097G>A (MSH6)
ENST00000700011.1:n.2982G>A (MSH6)
ENST00000682451.1:n.4503C>T (FBXO11)
ENST00000684712.1:n.4765C>T (FBXO11)
ENST00000234420.11:c.3688G>A (MSH6) MANE Select	ENSP00000234420.5:p.Ala1230Thr
ENST00000540021.6:c.3298G>A (MSH6)	ENSP00000446475.1:p.Ala1100Thr
ENST00000652107.1:c.3391G>A (MSH6)	ENSP00000498629.1:p.Ala1131Thr
ENST00000673637.1:c.3391G>A (MSH6)	ENSP00000501310.1:p.Ala1131Thr
ENST00000234420.9:c.3688G>A (MSH6)	ENSP00000234420.4:p.Ala1230Thr
ENST00000405808.5:c.169+1950C>T (FBXO11)	ENSP00000385127.1:n.169+1950C>T
ENST00000434234.5:c.*124+1749C>T (FBXO11)	ENSP00000402692.1:n.*124+1749C>T
ENST00000445503.5:c.*3035G>A (MSH6)	ENSP00000405294.1:n.*3035G>A
ENST00000538136.1:c.2782G>A (MSH6)	ENSP00000438580.1:p.Ala928Thr
ENST00000540021.5:c.3298G>A (MSH6)	ENSP00000446475.1:p.Ala1100Thr
ENST00000614496.4:c.2782G>A (MSH6)	ENSP00000477844.1:p.Ala928Thr
ENST00000622629.4:c.592G>A (MSH6)	ENSP00000482078.1:p.Ala198Thr
NM_000179.2:c.3688G>A , LRG_219t1:c.3688G>A (MSH6)	NP_000170.1:p.Ala1230Thr
NM_001281492.1:c.3298G>A (MSH6)	NP_001268421.1:p.Ala1100Thr
NM_001281493.1:c.2782G>A (MSH6)	NP_001268422.1:p.Ala928Thr
NM_001281494.1:c.2782G>A (MSH6)	NP_001268423.1:p.Ala928Thr
XM_005264271.1:c.3391G>A (MSH6)	XP_005264328.1:p.Ala1131Thr
XM_011532798.1:c.3505G>A (MSH6)	XP_011531100.1:p.Ala1169Thr
XM_011532799.1:c.3391G>A (MSH6)	XP_011531101.1:p.Ala1131Thr
XM_011532800.1:c.3391G>A (MSH6)	XP_011531102.1:p.Ala1131Thr
XM_024452819.1:c.3688G>A (MSH6)	XP_024308587.1:p.Ala1230Thr
XM_024452820.1:c.3505G>A (MSH6)	XP_024308588.1:p.Ala1169Thr
XM_024452821.1:c.3391G>A (MSH6)	XP_024308589.1:p.Ala1131Thr
XM_024452822.1:c.2782G>A (MSH6)	XP_024308590.1:p.Ala928Thr
NM_000179.3:c.3688G>A (MSH6) MANE Select	NP_000170.1:p.Ala1230Thr
NM_001281492.2:c.3298G>A (MSH6)	NP_001268421.1:p.Ala1100Thr
NM_001281493.2:c.2782G>A (MSH6)	NP_001268422.1:p.Ala928Thr
NM_001281494.2:c.2782G>A (MSH6)	NP_001268423.1:p.Ala928Thr