Canonical Allele Identifier: CA16610957

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 410403
• ClinVar RCV Id: RCV000775727 ; RCV002230103
• dbSNP Id: rs1060502880
• gnomAD v3: 2-47803626-G-A
• gnomAD v4: 2-47803626-G-A
• MyVariant Identifiers: chr2:g.48030765G>A (hg19) ; chr2:g.47803626G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803626G>A , CM000664.2:g.47803626G>A	GRCh38
NC_000002.11:g.48030765G>A , CM000664.1:g.48030765G>A	GRCh37
NC_000002.10:g.47884269G>A	NCBI36
NG_007111.1:g.25480G>A , LRG_219:g.25480G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3082G>A (MSH6)	ENSP00000406248.2:p.Ala1028Thr
ENST00000420813.6:c.3082G>A (MSH6)	ENSP00000390382.2:p.Ala1028Thr
ENST00000455383.6:c.3082G>A (MSH6)	ENSP00000397484.2:p.Ala1028Thr
ENST00000700004.2:c.3173-1992G>A (MSH6)	ENSP00000514752.2:n.3173-1992G>A
ENST00000699999.1:n.3463G>A (MSH6)
ENST00000700000.1:c.1813G>A (MSH6)	ENSP00000514749.1:p.Ala605Thr
ENST00000700002.1:c.3385G>A (MSH6)	ENSP00000514750.1:p.Ala1129Thr
ENST00000700003.1:c.834G>A (MSH6)	ENSP00000514751.1:n.834G>A
ENST00000700004.1:c.2330-1992G>A (MSH6)	ENSP00000514752.1:n.2330-1992G>A
ENST00000700005.1:n.2230G>A (MSH6)
ENST00000700006.1:n.2227G>A (MSH6)
ENST00000700007.1:n.1384G>A (MSH6)
ENST00000700008.1:n.958G>A (MSH6)
ENST00000700009.1:n.957G>A (MSH6)
ENST00000700010.1:n.788G>A (MSH6)
ENST00000700011.1:n.859G>A (MSH6)
ENST00000234420.11:c.3379G>A (MSH6) MANE Select	ENSP00000234420.5:p.Ala1127Thr
ENST00000540021.6:c.2989G>A (MSH6)	ENSP00000446475.1:p.Ala997Thr
ENST00000652107.1:c.3082G>A (MSH6)	ENSP00000498629.1:p.Ala1028Thr
ENST00000673637.1:c.3082G>A (MSH6)	ENSP00000501310.1:p.Ala1028Thr
ENST00000234420.9:c.3379G>A (MSH6)	ENSP00000234420.4:p.Ala1127Thr
ENST00000405808.5:c.169+4569C>T (FBXO11)	ENSP00000385127.1:n.169+4569C>T
ENST00000434234.5:c.*124+4368C>T (FBXO11)	ENSP00000402692.1:n.*124+4368C>T
ENST00000445503.5:c.*2726G>A (MSH6)	ENSP00000405294.1:n.*2726G>A
ENST00000538136.1:c.2473G>A (MSH6)	ENSP00000438580.1:p.Ala825Thr
ENST00000540021.5:c.2989G>A (MSH6)	ENSP00000446475.1:p.Ala997Thr
ENST00000614496.4:c.2473G>A (MSH6)	ENSP00000477844.1:p.Ala825Thr
ENST00000622629.4:c.283G>A (MSH6)	ENSP00000482078.1:p.Ala95Thr
NM_000179.2:c.3379G>A , LRG_219t1:c.3379G>A (MSH6)	NP_000170.1:p.Ala1127Thr
NM_001281492.1:c.2989G>A (MSH6)	NP_001268421.1:p.Ala997Thr
NM_001281493.1:c.2473G>A (MSH6)	NP_001268422.1:p.Ala825Thr
NM_001281494.1:c.2473G>A (MSH6)	NP_001268423.1:p.Ala825Thr
XM_005264271.1:c.3082G>A (MSH6)	XP_005264328.1:p.Ala1028Thr
XM_011532798.1:c.3196G>A (MSH6)	XP_011531100.1:p.Ala1066Thr
XM_011532799.1:c.3082G>A (MSH6)	XP_011531101.1:p.Ala1028Thr
XM_011532800.1:c.3082G>A (MSH6)	XP_011531102.1:p.Ala1028Thr
XM_024452819.1:c.3379G>A (MSH6)	XP_024308587.1:p.Ala1127Thr
XM_024452820.1:c.3196G>A (MSH6)	XP_024308588.1:p.Ala1066Thr
XM_024452821.1:c.3082G>A (MSH6)	XP_024308589.1:p.Ala1028Thr
XM_024452822.1:c.2473G>A (MSH6)	XP_024308590.1:p.Ala825Thr
NM_000179.3:c.3379G>A (MSH6) MANE Select	NP_000170.1:p.Ala1127Thr
NM_001281492.2:c.2989G>A (MSH6)	NP_001268421.1:p.Ala997Thr
NM_001281493.2:c.2473G>A (MSH6)	NP_001268422.1:p.Ala825Thr
NM_001281494.2:c.2473G>A (MSH6)	NP_001268423.1:p.Ala825Thr