Canonical Allele Identifier: CA346760619

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 428427
• ClinVar RCV Id: RCV000491846 ; RCV000553907 ; RCV001755732
• dbSNP Id: rs1114167788
• gnomAD v4: 2-47805700-T-A
• MyVariant Identifiers: chr2:g.48032839T>A (hg19) ; chr2:g.47805700T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805700T>A , CM000664.2:g.47805700T>A	GRCh38
NC_000002.11:g.48032839T>A , CM000664.1:g.48032839T>A	GRCh37
NC_000002.10:g.47886343T>A	NCBI36
NG_007111.1:g.27554T>A , LRG_219:g.27554T>A
NG_008397.1:g.104976A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3342T>A (MSH6)	ENSP00000406248.2:p.Asp1114Glu
ENST00000420813.6:c.3342T>A (MSH6)	ENSP00000390382.2:p.Asp1114Glu
ENST00000455383.6:c.3342T>A (MSH6)	ENSP00000397484.2:p.Asp1114Glu
ENST00000700004.2:c.3255T>A (MSH6)	ENSP00000514752.2:p.Asp1085Glu
ENST00000699999.1:n.4313T>A (MSH6)
ENST00000700000.1:c.2073T>A (MSH6)	ENSP00000514749.1:p.Asp691Glu
ENST00000700002.1:c.3645T>A (MSH6)	ENSP00000514750.1:p.Asp1215Glu
ENST00000700003.1:c.1094T>A (MSH6)	ENSP00000514751.1:n.1094T>A
ENST00000700004.1:c.2412T>A (MSH6)	ENSP00000514752.1:p.Asp804Glu
ENST00000700005.1:n.2490T>A (MSH6)
ENST00000700006.1:n.4301T>A (MSH6)
ENST00000700007.1:n.2234T>A (MSH6)
ENST00000700008.1:n.1808T>A (MSH6)
ENST00000700009.1:n.1807T>A (MSH6)
ENST00000700010.1:n.1048T>A (MSH6)
ENST00000700011.1:n.2933T>A (MSH6)
ENST00000234420.11:c.3639T>A (MSH6) MANE Select	ENSP00000234420.5:p.Asp1213Glu
ENST00000540021.6:c.3249T>A (MSH6)	ENSP00000446475.1:p.Asp1083Glu
ENST00000652107.1:c.3342T>A (MSH6)	ENSP00000498629.1:p.Asp1114Glu
ENST00000673637.1:c.3342T>A (MSH6)	ENSP00000501310.1:p.Asp1114Glu
ENST00000234420.9:c.3639T>A (MSH6)	ENSP00000234420.4:p.Asp1213Glu
ENST00000405808.5:c.169+2495A>T (FBXO11)	ENSP00000385127.1:n.169+2495A>T
ENST00000434234.5:c.*124+2294A>T (FBXO11)	ENSP00000402692.1:n.*124+2294A>T
ENST00000445503.5:c.*2986T>A (MSH6)	ENSP00000405294.1:n.*2986T>A
ENST00000538136.1:c.2733T>A (MSH6)	ENSP00000438580.1:p.Asp911Glu
ENST00000540021.5:c.3249T>A (MSH6)	ENSP00000446475.1:p.Asp1083Glu
ENST00000614496.4:c.2733T>A (MSH6)	ENSP00000477844.1:p.Asp911Glu
ENST00000622629.4:c.543T>A (MSH6)	ENSP00000482078.1:p.Asp181Glu
NM_000179.2:c.3639T>A , LRG_219t1:c.3639T>A (MSH6)	NP_000170.1:p.Asp1213Glu
NM_001281492.1:c.3249T>A (MSH6)	NP_001268421.1:p.Asp1083Glu
NM_001281493.1:c.2733T>A (MSH6)	NP_001268422.1:p.Asp911Glu
NM_001281494.1:c.2733T>A (MSH6)	NP_001268423.1:p.Asp911Glu
XM_005264271.1:c.3342T>A (MSH6)	XP_005264328.1:p.Asp1114Glu
XM_011532798.1:c.3456T>A (MSH6)	XP_011531100.1:p.Asp1152Glu
XM_011532799.1:c.3342T>A (MSH6)	XP_011531101.1:p.Asp1114Glu
XM_011532800.1:c.3342T>A (MSH6)	XP_011531102.1:p.Asp1114Glu
XM_024452819.1:c.3639T>A (MSH6)	XP_024308587.1:p.Asp1213Glu
XM_024452820.1:c.3456T>A (MSH6)	XP_024308588.1:p.Asp1152Glu
XM_024452821.1:c.3342T>A (MSH6)	XP_024308589.1:p.Asp1114Glu
XM_024452822.1:c.2733T>A (MSH6)	XP_024308590.1:p.Asp911Glu
NM_000179.3:c.3639T>A (MSH6) MANE Select	NP_000170.1:p.Asp1213Glu
NM_001281492.2:c.3249T>A (MSH6)	NP_001268421.1:p.Asp1083Glu
NM_001281493.2:c.2733T>A (MSH6)	NP_001268422.1:p.Asp911Glu
NM_001281494.2:c.2733T>A (MSH6)	NP_001268423.1:p.Asp911Glu