Canonical Allele Identifier: CA16611114

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 416182
• ClinVar RCV Id: RCV001427788 ; RCV003168915
• dbSNP Id: rs63750372
• gnomAD v3: 2-47798730-G-A
• gnomAD v4: 2-47798730-G-A
• COSMIC: COSM13382
• MyVariant Identifiers: chr2:g.48025869G>A (hg19) ; chr2:g.47798730G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798730G>A , CM000664.2:g.47798730G>A	GRCh38
NC_000002.11:g.48025869G>A , CM000664.1:g.48025869G>A	GRCh37
NC_000002.10:g.47879373G>A	NCBI36
NG_007111.1:g.20584G>A , LRG_219:g.20584G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.450G>A (MSH6)	ENSP00000406248.2:p.Arg150=
ENST00000420813.6:c.450G>A (MSH6)	ENSP00000390382.2:p.Arg150=
ENST00000455383.6:c.450G>A (MSH6)	ENSP00000397484.2:p.Arg150=
ENST00000700004.2:c.747G>A (MSH6)	ENSP00000514752.2:p.Arg249=
ENST00000699999.1:n.831G>A (MSH6)
ENST00000700000.1:c.747G>A (MSH6)	ENSP00000514749.1:p.Arg249=
ENST00000700002.1:c.753G>A (MSH6)	ENSP00000514750.1:p.Arg251=
ENST00000700003.1:c.627+2667G>A (MSH6)	ENSP00000514751.1:n.627+2667G>A
ENST00000234420.11:c.747G>A (MSH6) MANE Select	ENSP00000234420.5:p.Arg249=
ENST00000540021.6:c.357G>A (MSH6)	ENSP00000446475.1:p.Arg119=
ENST00000652107.1:c.450G>A (MSH6)	ENSP00000498629.1:p.Arg150=
ENST00000673637.1:c.450G>A (MSH6)	ENSP00000501310.1:p.Arg150=
ENST00000673922.1:n.469G>A (MSH6)
ENST00000234420.9:c.747G>A (MSH6)	ENSP00000234420.4:p.Arg249=
ENST00000405808.5:c.170-9290C>T (FBXO11)	ENSP00000385127.1:n.170-9290C>T
ENST00000411819.1:c.450G>A (MSH6)	ENSP00000406248.1:p.Arg150=
ENST00000434234.5:c.*124+9264C>T (FBXO11)	ENSP00000402692.1:n.*124+9264C>T
ENST00000445503.5:c.*94G>A (MSH6)	ENSP00000405294.1:n.*94G>A
ENST00000456246.1:c.*235G>A (MSH6)	ENSP00000410570.1:n.*235G>A
ENST00000538136.1:c.-160G>A (MSH6)	ENSP00000438580.1:n.-160G>A
ENST00000540021.5:c.357G>A (MSH6)	ENSP00000446475.1:p.Arg119=
ENST00000614496.4:c.-160G>A (MSH6)	ENSP00000477844.1:n.-160G>A
ENST00000616033.4:c.744G>A (MSH6)	ENSP00000480261.1:p.Arg248=
ENST00000622629.4:c.-2350G>A (MSH6)	ENSP00000482078.1:n.-2350G>A
NM_000179.2:c.747G>A , LRG_219t1:c.747G>A (MSH6)	NP_000170.1:p.Arg249=
NM_001281492.1:c.357G>A (MSH6)	NP_001268421.1:p.Arg119=
NM_001281493.1:c.-160G>A (MSH6)	NP_001268422.1:n.-160G>A
NM_001281494.1:c.-160G>A (MSH6)	NP_001268423.1:n.-160G>A
XM_005264271.1:c.450G>A (MSH6)	XP_005264328.1:p.Arg150=
XM_011532798.1:c.564G>A (MSH6)	XP_011531100.1:p.Arg188=
XM_011532799.1:c.450G>A (MSH6)	XP_011531101.1:p.Arg150=
XM_011532800.1:c.450G>A (MSH6)	XP_011531102.1:p.Arg150=
XM_024452819.1:c.747G>A (MSH6)	XP_024308587.1:p.Arg249=
XM_024452820.1:c.564G>A (MSH6)	XP_024308588.1:p.Arg188=
XM_024452821.1:c.450G>A (MSH6)	XP_024308589.1:p.Arg150=
XM_024452822.1:c.-160G>A (MSH6)	XP_024308590.1:n.-160G>A
NM_000179.3:c.747G>A (MSH6) MANE Select	NP_000170.1:p.Arg249=
NM_001281492.2:c.357G>A (MSH6)	NP_001268421.1:p.Arg119=
NM_001281493.2:c.-160G>A (MSH6)	NP_001268422.1:n.-160G>A
NM_001281494.2:c.-160G>A (MSH6)	NP_001268423.1:n.-160G>A