Canonical Allele Identifier: CA346760554

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2691617
• ClinVar RCV Id: RCV003490823
• gnomAD v4: 2-47805663-T-A
• MyVariant Identifiers: chr2:g.48032802T>A (hg19) ; chr2:g.47805663T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805663T>A , CM000664.2:g.47805663T>A	GRCh38
NC_000002.11:g.48032802T>A , CM000664.1:g.48032802T>A	GRCh37
NC_000002.10:g.47886306T>A	NCBI36
NG_007111.1:g.27517T>A , LRG_219:g.27517T>A
NG_008397.1:g.105013A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3305T>A (MSH6)	ENSP00000406248.2:p.Leu1102His
ENST00000420813.6:c.3305T>A (MSH6)	ENSP00000390382.2:p.Leu1102His
ENST00000455383.6:c.3305T>A (MSH6)	ENSP00000397484.2:p.Leu1102His
ENST00000700004.2:c.3218T>A (MSH6)	ENSP00000514752.2:p.Leu1073His
ENST00000699999.1:n.4276T>A (MSH6)
ENST00000700000.1:c.2036T>A (MSH6)	ENSP00000514749.1:p.Leu679His
ENST00000700002.1:c.3608T>A (MSH6)	ENSP00000514750.1:p.Leu1203His
ENST00000700003.1:c.1057T>A (MSH6)	ENSP00000514751.1:n.1057T>A
ENST00000700004.1:c.2375T>A (MSH6)	ENSP00000514752.1:p.Leu792His
ENST00000700005.1:n.2453T>A (MSH6)
ENST00000700006.1:n.4264T>A (MSH6)
ENST00000700007.1:n.2197T>A (MSH6)
ENST00000700008.1:n.1771T>A (MSH6)
ENST00000700009.1:n.1770T>A (MSH6)
ENST00000700010.1:n.1011T>A (MSH6)
ENST00000700011.1:n.2896T>A (MSH6)
ENST00000234420.11:c.3602T>A (MSH6) MANE Select	ENSP00000234420.5:p.Leu1201His
ENST00000540021.6:c.3212T>A (MSH6)	ENSP00000446475.1:p.Leu1071His
ENST00000652107.1:c.3305T>A (MSH6)	ENSP00000498629.1:p.Leu1102His
ENST00000673637.1:c.3305T>A (MSH6)	ENSP00000501310.1:p.Leu1102His
ENST00000234420.9:c.3602T>A (MSH6)	ENSP00000234420.4:p.Leu1201His
ENST00000405808.5:c.169+2532A>T (FBXO11)	ENSP00000385127.1:n.169+2532A>T
ENST00000434234.5:c.*124+2331A>T (FBXO11)	ENSP00000402692.1:n.*124+2331A>T
ENST00000445503.5:c.*2949T>A (MSH6)	ENSP00000405294.1:n.*2949T>A
ENST00000538136.1:c.2696T>A (MSH6)	ENSP00000438580.1:p.Leu899His
ENST00000540021.5:c.3212T>A (MSH6)	ENSP00000446475.1:p.Leu1071His
ENST00000614496.4:c.2696T>A (MSH6)	ENSP00000477844.1:p.Leu899His
ENST00000622629.4:c.506T>A (MSH6)	ENSP00000482078.1:p.Leu169His
NM_000179.2:c.3602T>A , LRG_219t1:c.3602T>A (MSH6)	NP_000170.1:p.Leu1201His
NM_001281492.1:c.3212T>A (MSH6)	NP_001268421.1:p.Leu1071His
NM_001281493.1:c.2696T>A (MSH6)	NP_001268422.1:p.Leu899His
NM_001281494.1:c.2696T>A (MSH6)	NP_001268423.1:p.Leu899His
XM_005264271.1:c.3305T>A (MSH6)	XP_005264328.1:p.Leu1102His
XM_011532798.1:c.3419T>A (MSH6)	XP_011531100.1:p.Leu1140His
XM_011532799.1:c.3305T>A (MSH6)	XP_011531101.1:p.Leu1102His
XM_011532800.1:c.3305T>A (MSH6)	XP_011531102.1:p.Leu1102His
XM_024452819.1:c.3602T>A (MSH6)	XP_024308587.1:p.Leu1201His
XM_024452820.1:c.3419T>A (MSH6)	XP_024308588.1:p.Leu1140His
XM_024452821.1:c.3305T>A (MSH6)	XP_024308589.1:p.Leu1102His
XM_024452822.1:c.2696T>A (MSH6)	XP_024308590.1:p.Leu899His
NM_000179.3:c.3602T>A (MSH6) MANE Select	NP_000170.1:p.Leu1201His
NM_001281492.2:c.3212T>A (MSH6)	NP_001268421.1:p.Leu1071His
NM_001281493.2:c.2696T>A (MSH6)	NP_001268422.1:p.Leu899His
NM_001281494.2:c.2696T>A (MSH6)	NP_001268423.1:p.Leu899His