Canonical Allele Identifier: CA013959

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 185296
• ClinVar RCV Id: RCV000164691 ; RCV000458549 ; RCV000485750
• dbSNP Id: rs755349360
• ExAC: 2:48033409 C / G
• gnomAD v2: 2-48033409-C-G
• gnomAD v3: 2-47806270-C-G
• gnomAD v4: 2-47806270-C-G
• MyVariant Identifiers: chr2:g.48033409C>G (hg19) ; chr2:g.47806270C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806270C>G , CM000664.2:g.47806270C>G	GRCh38
NC_000002.11:g.48033409C>G , CM000664.1:g.48033409C>G	GRCh37
NC_000002.10:g.47886913C>G	NCBI36
NG_007111.1:g.28124C>G , LRG_219:g.28124C>G
NG_008397.1:g.104406G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3416C>G (MSH6)	ENSP00000406248.2:p.Thr1139Ser
ENST00000420813.6:c.3416C>G (MSH6)	ENSP00000390382.2:p.Thr1139Ser
ENST00000455383.6:c.3416C>G (MSH6)	ENSP00000397484.2:p.Thr1139Ser
ENST00000700004.2:c.3329C>G (MSH6)	ENSP00000514752.2:p.Thr1110Ser
ENST00000699999.1:n.4387C>G (MSH6)
ENST00000700000.1:c.2147C>G (MSH6)	ENSP00000514749.1:p.Thr716Ser
ENST00000700002.1:c.3719C>G (MSH6)	ENSP00000514750.1:p.Thr1240Ser
ENST00000700003.1:c.1168C>G (MSH6)	ENSP00000514751.1:n.1168C>G
ENST00000700004.1:c.2486C>G (MSH6)	ENSP00000514752.1:p.Thr829Ser
ENST00000700005.1:n.2564C>G (MSH6)
ENST00000700006.1:n.4871C>G (MSH6)
ENST00000700007.1:n.2308C>G (MSH6)
ENST00000700008.1:n.1882C>G (MSH6)
ENST00000700009.1:n.2377C>G (MSH6)
ENST00000700010.1:n.1122C>G (MSH6)
ENST00000700011.1:n.3007C>G (MSH6)
ENST00000682451.1:n.4478G>C (FBXO11)
ENST00000684712.1:n.4740G>C (FBXO11)
ENST00000234420.11:c.3713C>G (MSH6) MANE Select	ENSP00000234420.5:p.Thr1238Ser
ENST00000540021.6:c.3323C>G (MSH6)	ENSP00000446475.1:p.Thr1108Ser
ENST00000652107.1:c.3416C>G (MSH6)	ENSP00000498629.1:p.Thr1139Ser
ENST00000673637.1:c.3416C>G (MSH6)	ENSP00000501310.1:p.Thr1139Ser
ENST00000234420.9:c.3713C>G (MSH6)	ENSP00000234420.4:p.Thr1238Ser
ENST00000405808.5:c.169+1925G>C (FBXO11)	ENSP00000385127.1:n.169+1925G>C
ENST00000434234.5:c.*124+1724G>C (FBXO11)	ENSP00000402692.1:n.*124+1724G>C
ENST00000445503.5:c.*3060C>G (MSH6)	ENSP00000405294.1:n.*3060C>G
ENST00000538136.1:c.2807C>G (MSH6)	ENSP00000438580.1:p.Thr936Ser
ENST00000540021.5:c.3323C>G (MSH6)	ENSP00000446475.1:p.Thr1108Ser
ENST00000614496.4:c.2807C>G (MSH6)	ENSP00000477844.1:p.Thr936Ser
ENST00000622629.4:c.617C>G (MSH6)	ENSP00000482078.1:p.Thr206Ser
NM_000179.2:c.3713C>G , LRG_219t1:c.3713C>G (MSH6)	NP_000170.1:p.Thr1238Ser
NM_001281492.1:c.3323C>G (MSH6)	NP_001268421.1:p.Thr1108Ser
NM_001281493.1:c.2807C>G (MSH6)	NP_001268422.1:p.Thr936Ser
NM_001281494.1:c.2807C>G (MSH6)	NP_001268423.1:p.Thr936Ser
XM_005264271.1:c.3416C>G (MSH6)	XP_005264328.1:p.Thr1139Ser
XM_011532798.1:c.3530C>G (MSH6)	XP_011531100.1:p.Thr1177Ser
XM_011532799.1:c.3416C>G (MSH6)	XP_011531101.1:p.Thr1139Ser
XM_011532800.1:c.3416C>G (MSH6)	XP_011531102.1:p.Thr1139Ser
XM_024452819.1:c.3713C>G (MSH6)	XP_024308587.1:p.Thr1238Ser
XM_024452820.1:c.3530C>G (MSH6)	XP_024308588.1:p.Thr1177Ser
XM_024452821.1:c.3416C>G (MSH6)	XP_024308589.1:p.Thr1139Ser
XM_024452822.1:c.2807C>G (MSH6)	XP_024308590.1:p.Thr936Ser
NM_000179.3:c.3713C>G (MSH6) MANE Select	NP_000170.1:p.Thr1238Ser
NM_001281492.2:c.3323C>G (MSH6)	NP_001268421.1:p.Thr1108Ser
NM_001281493.2:c.2807C>G (MSH6)	NP_001268422.1:p.Thr936Ser
NM_001281494.2:c.2807C>G (MSH6)	NP_001268423.1:p.Thr936Ser