Canonical Allele Identifier: CA339009

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 215655
• ClinVar RCV Id: RCV000199972 ; RCV000524184 ; RCV000561429 ; RCV001284019 ; RCV001824679 ; RCV003996955
• dbSNP Id: rs545552712
• gnomAD v4: 2-47806262-T-C
• MyVariant Identifiers: chr2:g.48033401T>C (hg19) ; chr2:g.47806262T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806262T>C , CM000664.2:g.47806262T>C	GRCh38
NC_000002.11:g.48033401T>C , CM000664.1:g.48033401T>C	GRCh37
NC_000002.10:g.47886905T>C	NCBI36
NG_007111.1:g.28116T>C , LRG_219:g.28116T>C
NG_008397.1:g.104414A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3408T>C (MSH6)	ENSP00000406248.2:p.Leu1136=
ENST00000420813.6:c.3408T>C (MSH6)	ENSP00000390382.2:p.Leu1136=
ENST00000455383.6:c.3408T>C (MSH6)	ENSP00000397484.2:p.Leu1136=
ENST00000700004.2:c.3321T>C (MSH6)	ENSP00000514752.2:p.Leu1107=
ENST00000699999.1:n.4379T>C (MSH6)
ENST00000700000.1:c.2139T>C (MSH6)	ENSP00000514749.1:p.Leu713=
ENST00000700002.1:c.3711T>C (MSH6)	ENSP00000514750.1:p.Leu1237=
ENST00000700003.1:c.1160T>C (MSH6)	ENSP00000514751.1:n.1160T>C
ENST00000700004.1:c.2478T>C (MSH6)	ENSP00000514752.1:p.Leu826=
ENST00000700005.1:n.2556T>C (MSH6)
ENST00000700006.1:n.4863T>C (MSH6)
ENST00000700007.1:n.2300T>C (MSH6)
ENST00000700008.1:n.1874T>C (MSH6)
ENST00000700009.1:n.2369T>C (MSH6)
ENST00000700010.1:n.1114T>C (MSH6)
ENST00000700011.1:n.2999T>C (MSH6)
ENST00000682451.1:n.4486A>G (FBXO11)
ENST00000684712.1:n.4748A>G (FBXO11)
ENST00000234420.11:c.3705T>C (MSH6) MANE Select	ENSP00000234420.5:p.Leu1235=
ENST00000540021.6:c.3315T>C (MSH6)	ENSP00000446475.1:p.Leu1105=
ENST00000652107.1:c.3408T>C (MSH6)	ENSP00000498629.1:p.Leu1136=
ENST00000673637.1:c.3408T>C (MSH6)	ENSP00000501310.1:p.Leu1136=
ENST00000234420.9:c.3705T>C (MSH6)	ENSP00000234420.4:p.Leu1235=
ENST00000405808.5:c.169+1933A>G (FBXO11)	ENSP00000385127.1:n.169+1933A>G
ENST00000434234.5:c.*124+1732A>G (FBXO11)	ENSP00000402692.1:n.*124+1732A>G
ENST00000445503.5:c.*3052T>C (MSH6)	ENSP00000405294.1:n.*3052T>C
ENST00000538136.1:c.2799T>C (MSH6)	ENSP00000438580.1:p.Leu933=
ENST00000540021.5:c.3315T>C (MSH6)	ENSP00000446475.1:p.Leu1105=
ENST00000614496.4:c.2799T>C (MSH6)	ENSP00000477844.1:p.Leu933=
ENST00000622629.4:c.609T>C (MSH6)	ENSP00000482078.1:p.Leu203=
NM_000179.2:c.3705T>C , LRG_219t1:c.3705T>C (MSH6)	NP_000170.1:p.Leu1235=
NM_001281492.1:c.3315T>C (MSH6)	NP_001268421.1:p.Leu1105=
NM_001281493.1:c.2799T>C (MSH6)	NP_001268422.1:p.Leu933=
NM_001281494.1:c.2799T>C (MSH6)	NP_001268423.1:p.Leu933=
XM_005264271.1:c.3408T>C (MSH6)	XP_005264328.1:p.Leu1136=
XM_011532798.1:c.3522T>C (MSH6)	XP_011531100.1:p.Leu1174=
XM_011532799.1:c.3408T>C (MSH6)	XP_011531101.1:p.Leu1136=
XM_011532800.1:c.3408T>C (MSH6)	XP_011531102.1:p.Leu1136=
XM_024452819.1:c.3705T>C (MSH6)	XP_024308587.1:p.Leu1235=
XM_024452820.1:c.3522T>C (MSH6)	XP_024308588.1:p.Leu1174=
XM_024452821.1:c.3408T>C (MSH6)	XP_024308589.1:p.Leu1136=
XM_024452822.1:c.2799T>C (MSH6)	XP_024308590.1:p.Leu933=
NM_000179.3:c.3705T>C (MSH6) MANE Select	NP_000170.1:p.Leu1235=
NM_001281492.2:c.3315T>C (MSH6)	NP_001268421.1:p.Leu1105=
NM_001281493.2:c.2799T>C (MSH6)	NP_001268422.1:p.Leu933=
NM_001281494.2:c.2799T>C (MSH6)	NP_001268423.1:p.Leu933=