Canonical Allele Identifier: CA346757832

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 843412
• ClinVar RCV Id: RCV001046030
• dbSNP Id: rs1669730426
• MyVariant Identifiers: chr2:g.48030568T>G (hg19) ; chr2:g.47803429T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803429T>G , CM000664.2:g.47803429T>G	GRCh38
NC_000002.11:g.48030568T>G , CM000664.1:g.48030568T>G	GRCh37
NC_000002.10:g.47884072T>G	NCBI36
NG_007111.1:g.25283T>G , LRG_219:g.25283T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2885T>G (MSH6)	ENSP00000406248.2:p.Leu962Arg
ENST00000420813.6:c.2885T>G (MSH6)	ENSP00000390382.2:p.Leu962Arg
ENST00000455383.6:c.2885T>G (MSH6)	ENSP00000397484.2:p.Leu962Arg
ENST00000700004.2:c.3173-2189T>G (MSH6)	ENSP00000514752.2:n.3173-2189T>G
ENST00000699999.1:n.3266T>G (MSH6)
ENST00000700000.1:c.1616T>G (MSH6)	ENSP00000514749.1:p.Leu539Arg
ENST00000700002.1:c.3188T>G (MSH6)	ENSP00000514750.1:p.Leu1063Arg
ENST00000700003.1:c.637T>G (MSH6)	ENSP00000514751.1:p.Cys213Gly
ENST00000700004.1:c.2330-2189T>G (MSH6)	ENSP00000514752.1:n.2330-2189T>G
ENST00000700005.1:n.2033T>G (MSH6)
ENST00000700006.1:n.2030T>G (MSH6)
ENST00000700007.1:n.1187T>G (MSH6)
ENST00000700008.1:n.761T>G (MSH6)
ENST00000700009.1:n.760T>G (MSH6)
ENST00000700010.1:n.591T>G (MSH6)
ENST00000700011.1:n.662T>G (MSH6)
ENST00000234420.11:c.3182T>G (MSH6) MANE Select	ENSP00000234420.5:p.Leu1061Arg
ENST00000540021.6:c.2792T>G (MSH6)	ENSP00000446475.1:p.Leu931Arg
ENST00000652107.1:c.2885T>G (MSH6)	ENSP00000498629.1:p.Leu962Arg
ENST00000673637.1:c.2885T>G (MSH6)	ENSP00000501310.1:p.Leu962Arg
ENST00000234420.9:c.3182T>G (MSH6)	ENSP00000234420.4:p.Leu1061Arg
ENST00000405808.5:c.169+4766A>C (FBXO11)	ENSP00000385127.1:n.169+4766A>C
ENST00000434234.5:c.*124+4565A>C (FBXO11)	ENSP00000402692.1:n.*124+4565A>C
ENST00000445503.5:c.*2529T>G (MSH6)	ENSP00000405294.1:n.*2529T>G
ENST00000538136.1:c.2276T>G (MSH6)	ENSP00000438580.1:p.Leu759Arg
ENST00000540021.5:c.2792T>G (MSH6)	ENSP00000446475.1:p.Leu931Arg
ENST00000614496.4:c.2276T>G (MSH6)	ENSP00000477844.1:p.Leu759Arg
ENST00000622629.4:c.86T>G (MSH6)	ENSP00000482078.1:p.Leu29Arg
NM_000179.2:c.3182T>G , LRG_219t1:c.3182T>G (MSH6)	NP_000170.1:p.Leu1061Arg
NM_001281492.1:c.2792T>G (MSH6)	NP_001268421.1:p.Leu931Arg
NM_001281493.1:c.2276T>G (MSH6)	NP_001268422.1:p.Leu759Arg
NM_001281494.1:c.2276T>G (MSH6)	NP_001268423.1:p.Leu759Arg
XM_005264271.1:c.2885T>G (MSH6)	XP_005264328.1:p.Leu962Arg
XM_011532798.1:c.2999T>G (MSH6)	XP_011531100.1:p.Leu1000Arg
XM_011532799.1:c.2885T>G (MSH6)	XP_011531101.1:p.Leu962Arg
XM_011532800.1:c.2885T>G (MSH6)	XP_011531102.1:p.Leu962Arg
XM_024452819.1:c.3182T>G (MSH6)	XP_024308587.1:p.Leu1061Arg
XM_024452820.1:c.2999T>G (MSH6)	XP_024308588.1:p.Leu1000Arg
XM_024452821.1:c.2885T>G (MSH6)	XP_024308589.1:p.Leu962Arg
XM_024452822.1:c.2276T>G (MSH6)	XP_024308590.1:p.Leu759Arg
NM_000179.3:c.3182T>G (MSH6) MANE Select	NP_000170.1:p.Leu1061Arg
NM_001281492.2:c.2792T>G (MSH6)	NP_001268421.1:p.Leu931Arg
NM_001281493.2:c.2276T>G (MSH6)	NP_001268422.1:p.Leu759Arg
NM_001281494.2:c.2276T>G (MSH6)	NP_001268423.1:p.Leu759Arg