Canonical Allele Identifier: CA425997215

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2779006
• ClinVar RCV Id: RCV003759932
• dbSNP Id: rs531674673
• gnomAD v2: 2-48032099-A-G
• gnomAD v4: 2-47804960-A-G
• MyVariant Identifiers: chr2:g.48032099A>G (hg19) ; chr2:g.47804960A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47804960A>G , CM000664.2:g.47804960A>G	GRCh38
NC_000002.11:g.48032099A>G , CM000664.1:g.48032099A>G	GRCh37
NC_000002.10:g.47885603A>G	NCBI36
NG_007111.1:g.26814A>G , LRG_219:g.26814A>G
NG_008397.1:g.105716T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3192A>G (MSH6)	ENSP00000406248.2:p.Glu1064=
ENST00000420813.6:c.3192A>G (MSH6)	ENSP00000390382.2:p.Glu1064=
ENST00000455383.6:c.3192A>G (MSH6)	ENSP00000397484.2:p.Glu1064=
ENST00000700004.2:c.3173-658A>G (MSH6)	ENSP00000514752.2:n.3173-658A>G
ENST00000699999.1:n.3573A>G (MSH6)
ENST00000700000.1:c.1923A>G (MSH6)	ENSP00000514749.1:p.Glu641=
ENST00000700002.1:c.3495A>G (MSH6)	ENSP00000514750.1:p.Glu1165=
ENST00000700003.1:c.944A>G (MSH6)	ENSP00000514751.1:n.944A>G
ENST00000700004.1:c.2330-658A>G (MSH6)	ENSP00000514752.1:n.2330-658A>G
ENST00000700005.1:n.2340A>G (MSH6)
ENST00000700006.1:n.3561A>G (MSH6)
ENST00000700007.1:n.1494A>G (MSH6)
ENST00000700008.1:n.1068A>G (MSH6)
ENST00000700009.1:n.1067A>G (MSH6)
ENST00000700010.1:n.898A>G (MSH6)
ENST00000700011.1:n.2193A>G (MSH6)
ENST00000234420.11:c.3489A>G (MSH6) MANE Select	ENSP00000234420.5:p.Glu1163=
ENST00000540021.6:c.3099A>G (MSH6)	ENSP00000446475.1:p.Glu1033=
ENST00000652107.1:c.3192A>G (MSH6)	ENSP00000498629.1:p.Glu1064=
ENST00000673637.1:c.3192A>G (MSH6)	ENSP00000501310.1:p.Glu1064=
ENST00000234420.9:c.3489A>G (MSH6)	ENSP00000234420.4:p.Glu1163=
ENST00000405808.5:c.169+3235T>C (FBXO11)	ENSP00000385127.1:n.169+3235T>C
ENST00000434234.5:c.*124+3034T>C (FBXO11)	ENSP00000402692.1:n.*124+3034T>C
ENST00000445503.5:c.*2836A>G (MSH6)	ENSP00000405294.1:n.*2836A>G
ENST00000538136.1:c.2583A>G (MSH6)	ENSP00000438580.1:p.Glu861=
ENST00000540021.5:c.3099A>G (MSH6)	ENSP00000446475.1:p.Glu1033=
ENST00000614496.4:c.2583A>G (MSH6)	ENSP00000477844.1:p.Glu861=
ENST00000622629.4:c.393A>G (MSH6)	ENSP00000482078.1:p.Glu131=
NM_000179.2:c.3489A>G , LRG_219t1:c.3489A>G (MSH6)	NP_000170.1:p.Glu1163=
NM_001281492.1:c.3099A>G (MSH6)	NP_001268421.1:p.Glu1033=
NM_001281493.1:c.2583A>G (MSH6)	NP_001268422.1:p.Glu861=
NM_001281494.1:c.2583A>G (MSH6)	NP_001268423.1:p.Glu861=
XM_005264271.1:c.3192A>G (MSH6)	XP_005264328.1:p.Glu1064=
XM_011532798.1:c.3306A>G (MSH6)	XP_011531100.1:p.Glu1102=
XM_011532799.1:c.3192A>G (MSH6)	XP_011531101.1:p.Glu1064=
XM_011532800.1:c.3192A>G (MSH6)	XP_011531102.1:p.Glu1064=
XM_024452819.1:c.3489A>G (MSH6)	XP_024308587.1:p.Glu1163=
XM_024452820.1:c.3306A>G (MSH6)	XP_024308588.1:p.Glu1102=
XM_024452821.1:c.3192A>G (MSH6)	XP_024308589.1:p.Glu1064=
XM_024452822.1:c.2583A>G (MSH6)	XP_024308590.1:p.Glu861=
NM_000179.3:c.3489A>G (MSH6) MANE Select	NP_000170.1:p.Glu1163=
NM_001281492.2:c.3099A>G (MSH6)	NP_001268421.1:p.Glu1033=
NM_001281493.2:c.2583A>G (MSH6)	NP_001268422.1:p.Glu861=
NM_001281494.2:c.2583A>G (MSH6)	NP_001268423.1:p.Glu861=