Canonical Allele Identifier: CA016745

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 184803
• ClinVar RCV Id: RCV000164123 ; RCV000204780 ; RCV000479969 ; RCV003150013 ; RCV003137692 ; RCV003995316 ; RCV004528909
• dbSNP Id: rs369568820
• ExAC: 2:48026102 C / G
• gnomAD v2: 2-48026102-C-G
• gnomAD v3: 2-47798963-C-G
• gnomAD v4: 2-47798963-C-G
• MyVariant Identifiers: chr2:g.48026102C>G (hg19) ; chr2:g.47798963C>G (hg38)
• PubMed: PMID:23047549 ; PMID:23621914

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798963C>G , CM000664.2:g.47798963C>G	GRCh38
NC_000002.11:g.48026102C>G , CM000664.1:g.48026102C>G	GRCh37
NC_000002.10:g.47879606C>G	NCBI36
NG_007111.1:g.20817C>G , LRG_219:g.20817C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.683C>G (MSH6)	ENSP00000406248.2:p.Thr228Ser
ENST00000420813.6:c.683C>G (MSH6)	ENSP00000390382.2:p.Thr228Ser
ENST00000455383.6:c.683C>G (MSH6)	ENSP00000397484.2:p.Thr228Ser
ENST00000700004.2:c.980C>G (MSH6)	ENSP00000514752.2:p.Thr327Ser
ENST00000699999.1:n.1064C>G (MSH6)
ENST00000700000.1:c.980C>G (MSH6)	ENSP00000514749.1:p.Thr327Ser
ENST00000700002.1:c.986C>G (MSH6)	ENSP00000514750.1:p.Thr329Ser
ENST00000700003.1:c.627+2900C>G (MSH6)	ENSP00000514751.1:n.627+2900C>G
ENST00000700004.1:c.137C>G (MSH6)	ENSP00000514752.1:p.Thr46Ser
ENST00000234420.11:c.980C>G (MSH6) MANE Select	ENSP00000234420.5:p.Thr327Ser
ENST00000540021.6:c.590C>G (MSH6)	ENSP00000446475.1:p.Thr197Ser
ENST00000652107.1:c.683C>G (MSH6)	ENSP00000498629.1:p.Thr228Ser
ENST00000673637.1:c.683C>G (MSH6)	ENSP00000501310.1:p.Thr228Ser
ENST00000234420.9:c.980C>G (MSH6)	ENSP00000234420.4:p.Thr327Ser
ENST00000405808.5:c.169+9232G>C (FBXO11)	ENSP00000385127.1:n.169+9232G>C
ENST00000434234.5:c.*124+9031G>C (FBXO11)	ENSP00000402692.1:n.*124+9031G>C
ENST00000445503.5:c.*327C>G (MSH6)	ENSP00000405294.1:n.*327C>G
ENST00000538136.1:c.74C>G (MSH6)	ENSP00000438580.1:p.Thr25Ser
ENST00000540021.5:c.590C>G (MSH6)	ENSP00000446475.1:p.Thr197Ser
ENST00000614496.4:c.74C>G (MSH6)	ENSP00000477844.1:p.Thr25Ser
ENST00000616033.4:c.977C>G (MSH6)	ENSP00000480261.1:p.Thr326Ser
ENST00000622629.4:c.-2117C>G (MSH6)	ENSP00000482078.1:n.-2117C>G
NM_000179.2:c.980C>G , LRG_219t1:c.980C>G (MSH6)	NP_000170.1:p.Thr327Ser
NM_001281492.1:c.590C>G (MSH6)	NP_001268421.1:p.Thr197Ser
NM_001281493.1:c.74C>G (MSH6)	NP_001268422.1:p.Thr25Ser
NM_001281494.1:c.74C>G (MSH6)	NP_001268423.1:p.Thr25Ser
XM_005264271.1:c.683C>G (MSH6)	XP_005264328.1:p.Thr228Ser
XM_011532798.1:c.797C>G (MSH6)	XP_011531100.1:p.Thr266Ser
XM_011532799.1:c.683C>G (MSH6)	XP_011531101.1:p.Thr228Ser
XM_011532800.1:c.683C>G (MSH6)	XP_011531102.1:p.Thr228Ser
XM_024452819.1:c.980C>G (MSH6)	XP_024308587.1:p.Thr327Ser
XM_024452820.1:c.797C>G (MSH6)	XP_024308588.1:p.Thr266Ser
XM_024452821.1:c.683C>G (MSH6)	XP_024308589.1:p.Thr228Ser
XM_024452822.1:c.74C>G (MSH6)	XP_024308590.1:p.Thr25Ser
NM_000179.3:c.980C>G (MSH6) MANE Select	NP_000170.1:p.Thr327Ser
NM_001281492.2:c.590C>G (MSH6)	NP_001268421.1:p.Thr197Ser
NM_001281493.2:c.74C>G (MSH6)	NP_001268422.1:p.Thr25Ser
NM_001281494.2:c.74C>G (MSH6)	NP_001268423.1:p.Thr25Ser