Canonical Allele Identifier: CA008977

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89212
• ClinVar RCV Id: RCV001374215
• dbSNP Id: rs63751172
• gnomAD v4: 2-47799619-G-C
• MyVariant Identifiers: chr2:g.48026758G>C (hg19) ; chr2:g.47799619G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799619G>C , CM000664.2:g.47799619G>C	GRCh38
NC_000002.11:g.48026758G>C , CM000664.1:g.48026758G>C	GRCh37
NC_000002.10:g.47880262G>C	NCBI36
NG_007111.1:g.21473G>C , LRG_219:g.21473G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.1339G>C (MSH6)	ENSP00000406248.2:p.Glu447Gln
ENST00000420813.6:c.1339G>C (MSH6)	ENSP00000390382.2:p.Glu447Gln
ENST00000455383.6:c.1339G>C (MSH6)	ENSP00000397484.2:p.Glu447Gln
ENST00000700004.2:c.1636G>C (MSH6)	ENSP00000514752.2:p.Glu546Gln
ENST00000699999.1:n.1720G>C (MSH6)
ENST00000700000.1:c.1606+30G>C (MSH6)	ENSP00000514749.1:n.1606+30G>C
ENST00000700002.1:c.1642G>C (MSH6)	ENSP00000514750.1:p.Glu548Gln
ENST00000700003.1:c.627+3556G>C (MSH6)	ENSP00000514751.1:n.627+3556G>C
ENST00000700004.1:c.793G>C (MSH6)	ENSP00000514752.1:p.Glu265Gln
ENST00000234420.11:c.1636G>C (MSH6) MANE Select	ENSP00000234420.5:p.Glu546Gln
ENST00000540021.6:c.1246G>C (MSH6)	ENSP00000446475.1:p.Glu416Gln
ENST00000652107.1:c.1339G>C (MSH6)	ENSP00000498629.1:p.Glu447Gln
ENST00000673637.1:c.1339G>C (MSH6)	ENSP00000501310.1:p.Glu447Gln
ENST00000234420.9:c.1636G>C (MSH6)	ENSP00000234420.4:p.Glu546Gln
ENST00000405808.5:c.169+8576C>G (FBXO11)	ENSP00000385127.1:n.169+8576C>G
ENST00000434234.5:c.*124+8375C>G (FBXO11)	ENSP00000402692.1:n.*124+8375C>G
ENST00000445503.5:c.*983G>C (MSH6)	ENSP00000405294.1:n.*983G>C
ENST00000538136.1:c.730G>C (MSH6)	ENSP00000438580.1:p.Glu244Gln
ENST00000540021.5:c.1246G>C (MSH6)	ENSP00000446475.1:p.Glu416Gln
ENST00000614496.4:c.730G>C (MSH6)	ENSP00000477844.1:p.Glu244Gln
ENST00000616033.4:c.1633G>C (MSH6)	ENSP00000480261.1:p.Glu545Gln
ENST00000622629.4:c.-1461G>C (MSH6)	ENSP00000482078.1:n.-1461G>C
NM_000179.2:c.1636G>C , LRG_219t1:c.1636G>C (MSH6)	NP_000170.1:p.Glu546Gln
NM_001281492.1:c.1246G>C (MSH6)	NP_001268421.1:p.Glu416Gln
NM_001281493.1:c.730G>C (MSH6)	NP_001268422.1:p.Glu244Gln
NM_001281494.1:c.730G>C (MSH6)	NP_001268423.1:p.Glu244Gln
XM_005264271.1:c.1339G>C (MSH6)	XP_005264328.1:p.Glu447Gln
XM_011532798.1:c.1453G>C (MSH6)	XP_011531100.1:p.Glu485Gln
XM_011532799.1:c.1339G>C (MSH6)	XP_011531101.1:p.Glu447Gln
XM_011532800.1:c.1339G>C (MSH6)	XP_011531102.1:p.Glu447Gln
XM_024452819.1:c.1636G>C (MSH6)	XP_024308587.1:p.Glu546Gln
XM_024452820.1:c.1453G>C (MSH6)	XP_024308588.1:p.Glu485Gln
XM_024452821.1:c.1339G>C (MSH6)	XP_024308589.1:p.Glu447Gln
XM_024452822.1:c.730G>C (MSH6)	XP_024308590.1:p.Glu244Gln
NM_000179.3:c.1636G>C (MSH6) MANE Select	NP_000170.1:p.Glu546Gln
NM_001281492.2:c.1246G>C (MSH6)	NP_001268421.1:p.Glu416Gln
NM_001281493.2:c.730G>C (MSH6)	NP_001268422.1:p.Glu244Gln
NM_001281494.2:c.730G>C (MSH6)	NP_001268423.1:p.Glu244Gln