Canonical Allele Identifier: CA10578134

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 232532
• ClinVar RCV Id: RCV000215877 ; RCV001853591
• dbSNP Id: rs876659824
• MyVariant Identifiers: chr2:g.48030616C>A (hg19) ; chr2:g.47803477C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803477C>A , CM000664.2:g.47803477C>A	GRCh38
NC_000002.11:g.48030616C>A , CM000664.1:g.48030616C>A	GRCh37
NC_000002.10:g.47884120C>A	NCBI36
NG_007111.1:g.25331C>A , LRG_219:g.25331C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2933C>A (MSH6)	ENSP00000406248.2:p.Pro978Gln
ENST00000420813.6:c.2933C>A (MSH6)	ENSP00000390382.2:p.Pro978Gln
ENST00000455383.6:c.2933C>A (MSH6)	ENSP00000397484.2:p.Pro978Gln
ENST00000700004.2:c.3173-2141C>A (MSH6)	ENSP00000514752.2:n.3173-2141C>A
ENST00000699999.1:n.3314C>A (MSH6)
ENST00000700000.1:c.1664C>A (MSH6)	ENSP00000514749.1:p.Pro555Gln
ENST00000700002.1:c.3236C>A (MSH6)	ENSP00000514750.1:p.Pro1079Gln
ENST00000700003.1:c.685C>A (MSH6)	ENSP00000514751.1:p.Gln229Lys
ENST00000700004.1:c.2330-2141C>A (MSH6)	ENSP00000514752.1:n.2330-2141C>A
ENST00000700005.1:n.2081C>A (MSH6)
ENST00000700006.1:n.2078C>A (MSH6)
ENST00000700007.1:n.1235C>A (MSH6)
ENST00000700008.1:n.809C>A (MSH6)
ENST00000700009.1:n.808C>A (MSH6)
ENST00000700010.1:n.639C>A (MSH6)
ENST00000700011.1:n.710C>A (MSH6)
ENST00000234420.11:c.3230C>A (MSH6) MANE Select	ENSP00000234420.5:p.Pro1077Gln
ENST00000540021.6:c.2840C>A (MSH6)	ENSP00000446475.1:p.Pro947Gln
ENST00000652107.1:c.2933C>A (MSH6)	ENSP00000498629.1:p.Pro978Gln
ENST00000673637.1:c.2933C>A (MSH6)	ENSP00000501310.1:p.Pro978Gln
ENST00000234420.9:c.3230C>A (MSH6)	ENSP00000234420.4:p.Pro1077Gln
ENST00000405808.5:c.169+4718G>T (FBXO11)	ENSP00000385127.1:n.169+4718G>T
ENST00000434234.5:c.*124+4517G>T (FBXO11)	ENSP00000402692.1:n.*124+4517G>T
ENST00000445503.5:c.*2577C>A (MSH6)	ENSP00000405294.1:n.*2577C>A
ENST00000538136.1:c.2324C>A (MSH6)	ENSP00000438580.1:p.Pro775Gln
ENST00000540021.5:c.2840C>A (MSH6)	ENSP00000446475.1:p.Pro947Gln
ENST00000614496.4:c.2324C>A (MSH6)	ENSP00000477844.1:p.Pro775Gln
ENST00000622629.4:c.134C>A (MSH6)	ENSP00000482078.1:p.Pro45Gln
NM_000179.2:c.3230C>A , LRG_219t1:c.3230C>A (MSH6)	NP_000170.1:p.Pro1077Gln
NM_001281492.1:c.2840C>A (MSH6)	NP_001268421.1:p.Pro947Gln
NM_001281493.1:c.2324C>A (MSH6)	NP_001268422.1:p.Pro775Gln
NM_001281494.1:c.2324C>A (MSH6)	NP_001268423.1:p.Pro775Gln
XM_005264271.1:c.2933C>A (MSH6)	XP_005264328.1:p.Pro978Gln
XM_011532798.1:c.3047C>A (MSH6)	XP_011531100.1:p.Pro1016Gln
XM_011532799.1:c.2933C>A (MSH6)	XP_011531101.1:p.Pro978Gln
XM_011532800.1:c.2933C>A (MSH6)	XP_011531102.1:p.Pro978Gln
XM_024452819.1:c.3230C>A (MSH6)	XP_024308587.1:p.Pro1077Gln
XM_024452820.1:c.3047C>A (MSH6)	XP_024308588.1:p.Pro1016Gln
XM_024452821.1:c.2933C>A (MSH6)	XP_024308589.1:p.Pro978Gln
XM_024452822.1:c.2324C>A (MSH6)	XP_024308590.1:p.Pro775Gln
NM_000179.3:c.3230C>A (MSH6) MANE Select	NP_000170.1:p.Pro1077Gln
NM_001281492.2:c.2840C>A (MSH6)	NP_001268421.1:p.Pro947Gln
NM_001281493.2:c.2324C>A (MSH6)	NP_001268422.1:p.Pro775Gln
NM_001281494.2:c.2324C>A (MSH6)	NP_001268423.1:p.Pro775Gln