Canonical Allele Identifier: CA013865

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89447
• ClinVar RCV Id: RCV000167477 ; RCV001044651
• dbSNP Id: rs41295276
• MyVariant Identifiers: chr2:g.48033390G>C (hg19) ; chr2:g.47806251G>C (hg38)
• PubMed: PMID:18033691

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806251G>C , CM000664.2:g.47806251G>C	GRCh38
NC_000002.11:g.48033390G>C , CM000664.1:g.48033390G>C	GRCh37
NC_000002.10:g.47886894G>C	NCBI36
NG_007111.1:g.28105G>C , LRG_219:g.28105G>C
NG_008397.1:g.104425C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3397G>C (MSH6)	ENSP00000406248.2:p.Val1133Leu
ENST00000420813.6:c.3397G>C (MSH6)	ENSP00000390382.2:p.Val1133Leu
ENST00000455383.6:c.3397G>C (MSH6)	ENSP00000397484.2:p.Val1133Leu
ENST00000700004.2:c.3310G>C (MSH6)	ENSP00000514752.2:p.Val1104Leu
ENST00000699999.1:n.4368G>C (MSH6)
ENST00000700000.1:c.2128G>C (MSH6)	ENSP00000514749.1:p.Val710Leu
ENST00000700002.1:c.3700G>C (MSH6)	ENSP00000514750.1:p.Val1234Leu
ENST00000700003.1:c.1149G>C (MSH6)	ENSP00000514751.1:n.1149G>C
ENST00000700004.1:c.2467G>C (MSH6)	ENSP00000514752.1:p.Val823Leu
ENST00000700005.1:n.2545G>C (MSH6)
ENST00000700006.1:n.4852G>C (MSH6)
ENST00000700007.1:n.2289G>C (MSH6)
ENST00000700008.1:n.1863G>C (MSH6)
ENST00000700009.1:n.2358G>C (MSH6)
ENST00000700010.1:n.1103G>C (MSH6)
ENST00000700011.1:n.2988G>C (MSH6)
ENST00000682451.1:n.4497C>G (FBXO11)
ENST00000684712.1:n.4759C>G (FBXO11)
ENST00000234420.11:c.3694G>C (MSH6) MANE Select	ENSP00000234420.5:p.Val1232Leu
ENST00000540021.6:c.3304G>C (MSH6)	ENSP00000446475.1:p.Val1102Leu
ENST00000652107.1:c.3397G>C (MSH6)	ENSP00000498629.1:p.Val1133Leu
ENST00000673637.1:c.3397G>C (MSH6)	ENSP00000501310.1:p.Val1133Leu
ENST00000234420.9:c.3694G>C (MSH6)	ENSP00000234420.4:p.Val1232Leu
ENST00000405808.5:c.169+1944C>G (FBXO11)	ENSP00000385127.1:n.169+1944C>G
ENST00000434234.5:c.*124+1743C>G (FBXO11)	ENSP00000402692.1:n.*124+1743C>G
ENST00000445503.5:c.*3041G>C (MSH6)	ENSP00000405294.1:n.*3041G>C
ENST00000538136.1:c.2788G>C (MSH6)	ENSP00000438580.1:p.Val930Leu
ENST00000540021.5:c.3304G>C (MSH6)	ENSP00000446475.1:p.Val1102Leu
ENST00000614496.4:c.2788G>C (MSH6)	ENSP00000477844.1:p.Val930Leu
ENST00000622629.4:c.598G>C (MSH6)	ENSP00000482078.1:p.Val200Leu
NM_000179.2:c.3694G>C , LRG_219t1:c.3694G>C (MSH6)	NP_000170.1:p.Val1232Leu
NM_001281492.1:c.3304G>C (MSH6)	NP_001268421.1:p.Val1102Leu
NM_001281493.1:c.2788G>C (MSH6)	NP_001268422.1:p.Val930Leu
NM_001281494.1:c.2788G>C (MSH6)	NP_001268423.1:p.Val930Leu
XM_005264271.1:c.3397G>C (MSH6)	XP_005264328.1:p.Val1133Leu
XM_011532798.1:c.3511G>C (MSH6)	XP_011531100.1:p.Val1171Leu
XM_011532799.1:c.3397G>C (MSH6)	XP_011531101.1:p.Val1133Leu
XM_011532800.1:c.3397G>C (MSH6)	XP_011531102.1:p.Val1133Leu
XM_024452819.1:c.3694G>C (MSH6)	XP_024308587.1:p.Val1232Leu
XM_024452820.1:c.3511G>C (MSH6)	XP_024308588.1:p.Val1171Leu
XM_024452821.1:c.3397G>C (MSH6)	XP_024308589.1:p.Val1133Leu
XM_024452822.1:c.2788G>C (MSH6)	XP_024308590.1:p.Val930Leu
NM_000179.3:c.3694G>C (MSH6) MANE Select	NP_000170.1:p.Val1232Leu
NM_001281492.2:c.3304G>C (MSH6)	NP_001268421.1:p.Val1102Leu
NM_001281493.2:c.2788G>C (MSH6)	NP_001268422.1:p.Val930Leu
NM_001281494.2:c.2788G>C (MSH6)	NP_001268423.1:p.Val930Leu