Canonical Allele Identifier: CA008349

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 183736
• ClinVar RCV Id: RCV000162446 ; RCV001044962 ; RCV001357169 ; RCV003233476 ; RCV003454390
• dbSNP Id: rs786201049
• MyVariant Identifiers: chr2:g.48026360G>A (hg19) ; chr2:g.47799221G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799221G>A , CM000664.2:g.47799221G>A	GRCh38
NC_000002.11:g.48026360G>A , CM000664.1:g.48026360G>A	GRCh37
NC_000002.10:g.47879864G>A	NCBI36
NG_007111.1:g.21075G>A , LRG_219:g.21075G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.941G>A (MSH6)	ENSP00000406248.2:p.Trp314Ter
ENST00000420813.6:c.941G>A (MSH6)	ENSP00000390382.2:p.Trp314Ter
ENST00000455383.6:c.941G>A (MSH6)	ENSP00000397484.2:p.Trp314Ter
ENST00000700004.2:c.1238G>A (MSH6)	ENSP00000514752.2:p.Trp413Ter
ENST00000699999.1:n.1322G>A (MSH6)
ENST00000700000.1:c.1238G>A (MSH6)	ENSP00000514749.1:p.Trp413Ter
ENST00000700002.1:c.1244G>A (MSH6)	ENSP00000514750.1:p.Trp415Ter
ENST00000700003.1:c.627+3158G>A (MSH6)	ENSP00000514751.1:n.627+3158G>A
ENST00000700004.1:c.395G>A (MSH6)	ENSP00000514752.1:p.Trp132Ter
ENST00000234420.11:c.1238G>A (MSH6) MANE Select	ENSP00000234420.5:p.Trp413Ter
ENST00000540021.6:c.848G>A (MSH6)	ENSP00000446475.1:p.Trp283Ter
ENST00000652107.1:c.941G>A (MSH6)	ENSP00000498629.1:p.Trp314Ter
ENST00000673637.1:c.941G>A (MSH6)	ENSP00000501310.1:p.Trp314Ter
ENST00000234420.9:c.1238G>A (MSH6)	ENSP00000234420.4:p.Trp413Ter
ENST00000405808.5:c.169+8974C>T (FBXO11)	ENSP00000385127.1:n.169+8974C>T
ENST00000434234.5:c.*124+8773C>T (FBXO11)	ENSP00000402692.1:n.*124+8773C>T
ENST00000445503.5:c.*585G>A (MSH6)	ENSP00000405294.1:n.*585G>A
ENST00000538136.1:c.332G>A (MSH6)	ENSP00000438580.1:p.Trp111Ter
ENST00000540021.5:c.848G>A (MSH6)	ENSP00000446475.1:p.Trp283Ter
ENST00000614496.4:c.332G>A (MSH6)	ENSP00000477844.1:p.Trp111Ter
ENST00000616033.4:c.1235G>A (MSH6)	ENSP00000480261.1:p.Trp412Ter
ENST00000622629.4:c.-1859G>A (MSH6)	ENSP00000482078.1:n.-1859G>A
NM_000179.2:c.1238G>A , LRG_219t1:c.1238G>A (MSH6)	NP_000170.1:p.Trp413Ter
NM_001281492.1:c.848G>A (MSH6)	NP_001268421.1:p.Trp283Ter
NM_001281493.1:c.332G>A (MSH6)	NP_001268422.1:p.Trp111Ter
NM_001281494.1:c.332G>A (MSH6)	NP_001268423.1:p.Trp111Ter
XM_005264271.1:c.941G>A (MSH6)	XP_005264328.1:p.Trp314Ter
XM_011532798.1:c.1055G>A (MSH6)	XP_011531100.1:p.Trp352Ter
XM_011532799.1:c.941G>A (MSH6)	XP_011531101.1:p.Trp314Ter
XM_011532800.1:c.941G>A (MSH6)	XP_011531102.1:p.Trp314Ter
XM_024452819.1:c.1238G>A (MSH6)	XP_024308587.1:p.Trp413Ter
XM_024452820.1:c.1055G>A (MSH6)	XP_024308588.1:p.Trp352Ter
XM_024452821.1:c.941G>A (MSH6)	XP_024308589.1:p.Trp314Ter
XM_024452822.1:c.332G>A (MSH6)	XP_024308590.1:p.Trp111Ter
NM_000179.3:c.1238G>A (MSH6) MANE Select	NP_000170.1:p.Trp413Ter
NM_001281492.2:c.848G>A (MSH6)	NP_001268421.1:p.Trp283Ter
NM_001281493.2:c.332G>A (MSH6)	NP_001268422.1:p.Trp111Ter
NM_001281494.2:c.332G>A (MSH6)	NP_001268423.1:p.Trp111Ter