Canonical Allele Identifier: CA346743776

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 428378
• ClinVar RCV Id: RCV000490843 ; RCV000657749 ; RCV000812630 ; RCV003449317 ; RCV004003458
• dbSNP Id: rs1114167756
• MyVariant Identifiers: chr2:g.48026365C>T (hg19) ; chr2:g.47799226C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799226C>T , CM000664.2:g.47799226C>T	GRCh38
NC_000002.11:g.48026365C>T , CM000664.1:g.48026365C>T	GRCh37
NC_000002.10:g.47879869C>T	NCBI36
NG_007111.1:g.21080C>T , LRG_219:g.21080C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.946C>T (MSH6)	ENSP00000406248.2:p.Gln316Ter
ENST00000420813.6:c.946C>T (MSH6)	ENSP00000390382.2:p.Gln316Ter
ENST00000455383.6:c.946C>T (MSH6)	ENSP00000397484.2:p.Gln316Ter
ENST00000700004.2:c.1243C>T (MSH6)	ENSP00000514752.2:p.Gln415Ter
ENST00000699999.1:n.1327C>T (MSH6)
ENST00000700000.1:c.1243C>T (MSH6)	ENSP00000514749.1:p.Gln415Ter
ENST00000700002.1:c.1249C>T (MSH6)	ENSP00000514750.1:p.Gln417Ter
ENST00000700003.1:c.627+3163C>T (MSH6)	ENSP00000514751.1:n.627+3163C>T
ENST00000700004.1:c.400C>T (MSH6)	ENSP00000514752.1:p.Gln134Ter
ENST00000234420.11:c.1243C>T (MSH6) MANE Select	ENSP00000234420.5:p.Gln415Ter
ENST00000540021.6:c.853C>T (MSH6)	ENSP00000446475.1:p.Gln285Ter
ENST00000652107.1:c.946C>T (MSH6)	ENSP00000498629.1:p.Gln316Ter
ENST00000673637.1:c.946C>T (MSH6)	ENSP00000501310.1:p.Gln316Ter
ENST00000234420.9:c.1243C>T (MSH6)	ENSP00000234420.4:p.Gln415Ter
ENST00000405808.5:c.169+8969G>A (FBXO11)	ENSP00000385127.1:n.169+8969G>A
ENST00000434234.5:c.*124+8768G>A (FBXO11)	ENSP00000402692.1:n.*124+8768G>A
ENST00000445503.5:c.*590C>T (MSH6)	ENSP00000405294.1:n.*590C>T
ENST00000538136.1:c.337C>T (MSH6)	ENSP00000438580.1:p.Gln113Ter
ENST00000540021.5:c.853C>T (MSH6)	ENSP00000446475.1:p.Gln285Ter
ENST00000614496.4:c.337C>T (MSH6)	ENSP00000477844.1:p.Gln113Ter
ENST00000616033.4:c.1240C>T (MSH6)	ENSP00000480261.1:p.Gln414Ter
ENST00000622629.4:c.-1854C>T (MSH6)	ENSP00000482078.1:n.-1854C>T
NM_000179.2:c.1243C>T , LRG_219t1:c.1243C>T (MSH6)	NP_000170.1:p.Gln415Ter
NM_001281492.1:c.853C>T (MSH6)	NP_001268421.1:p.Gln285Ter
NM_001281493.1:c.337C>T (MSH6)	NP_001268422.1:p.Gln113Ter
NM_001281494.1:c.337C>T (MSH6)	NP_001268423.1:p.Gln113Ter
XM_005264271.1:c.946C>T (MSH6)	XP_005264328.1:p.Gln316Ter
XM_011532798.1:c.1060C>T (MSH6)	XP_011531100.1:p.Gln354Ter
XM_011532799.1:c.946C>T (MSH6)	XP_011531101.1:p.Gln316Ter
XM_011532800.1:c.946C>T (MSH6)	XP_011531102.1:p.Gln316Ter
XM_024452819.1:c.1243C>T (MSH6)	XP_024308587.1:p.Gln415Ter
XM_024452820.1:c.1060C>T (MSH6)	XP_024308588.1:p.Gln354Ter
XM_024452821.1:c.946C>T (MSH6)	XP_024308589.1:p.Gln316Ter
XM_024452822.1:c.337C>T (MSH6)	XP_024308590.1:p.Gln113Ter
NM_000179.3:c.1243C>T (MSH6) MANE Select	NP_000170.1:p.Gln415Ter
NM_001281492.2:c.853C>T (MSH6)	NP_001268421.1:p.Gln285Ter
NM_001281493.2:c.337C>T (MSH6)	NP_001268422.1:p.Gln113Ter
NM_001281494.2:c.337C>T (MSH6)	NP_001268423.1:p.Gln113Ter