Canonical Allele Identifier: CA015138

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 89501
• ClinVar RCV Id: RCV000074969 ; RCV000491060 ; RCV000812440 ; RCV002267832 ; RCV003450986
• dbSNP Id: rs267608131
• gnomAD v4: 2-47806653-T-C
• MyVariant Identifiers: chr2:g.48033792T>C (hg19) ; chr2:g.47806653T>C (hg38)
• PubMed: PMID:18566915 ; PMID:22495361

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806653T>C , CM000664.2:g.47806653T>C	GRCh38
NC_000002.11:g.48033792T>C , CM000664.1:g.48033792T>C	GRCh37
NC_000002.10:g.47887296T>C	NCBI36
NG_007111.1:g.28507T>C , LRG_219:g.28507T>C
NG_008397.1:g.104023A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3704+2T>C (MSH6)	ENSP00000406248.2:n.3704+2T>C
ENST00000420813.6:c.3704+2T>C (MSH6)	ENSP00000390382.2:n.3704+2T>C
ENST00000455383.6:c.3704+2T>C (MSH6)	ENSP00000397484.2:n.3704+2T>C
ENST00000700004.2:c.3617+2T>C (MSH6)	ENSP00000514752.2:n.3617+2T>C
ENST00000699999.1:n.4675+2T>C (MSH6)
ENST00000700000.1:c.2435+2T>C (MSH6)	ENSP00000514749.1:n.2435+2T>C
ENST00000700002.1:c.4007+2T>C (MSH6)	ENSP00000514750.1:n.4007+2T>C
ENST00000700003.1:c.1456+2T>C (MSH6)	ENSP00000514751.1:n.1456+2T>C
ENST00000700004.1:c.2774+2T>C (MSH6)	ENSP00000514752.1:n.2774+2T>C
ENST00000700005.1:n.2854T>C (MSH6)
ENST00000700006.1:n.5161T>C (MSH6)
ENST00000700007.1:n.2596+2T>C (MSH6)
ENST00000700008.1:n.2263+2T>C (MSH6)
ENST00000700009.1:n.2665+2T>C (MSH6)
ENST00000700010.1:n.1410+2T>C (MSH6)
ENST00000700011.1:n.3295+2T>C (MSH6)
ENST00000682451.1:n.4095A>G (FBXO11)
ENST00000684712.1:n.4357A>G (FBXO11)
ENST00000234420.11:c.4001+2T>C (MSH6) MANE Select	ENSP00000234420.5:n.4001+2T>C
ENST00000540021.6:c.3611+2T>C (MSH6)	ENSP00000446475.1:n.3611+2T>C
ENST00000652107.1:c.3704+2T>C (MSH6)	ENSP00000498629.1:n.3704+2T>C
ENST00000673637.1:c.3704+2T>C (MSH6)	ENSP00000501310.1:n.3704+2T>C
ENST00000234420.9:c.4001+2T>C (MSH6)	ENSP00000234420.4:n.4001+2T>C
ENST00000405808.5:c.169+1542A>G (FBXO11)	ENSP00000385127.1:n.169+1542A>G
ENST00000434234.5:c.*124+1341A>G (FBXO11)	ENSP00000402692.1:n.*124+1341A>G
ENST00000445503.5:c.*3348+2T>C (MSH6)	ENSP00000405294.1:n.*3348+2T>C
ENST00000538136.1:c.3095+2T>C (MSH6)	ENSP00000438580.1:n.3095+2T>C
ENST00000540021.5:c.3611+2T>C (MSH6)	ENSP00000446475.1:n.3611+2T>C
ENST00000614496.4:c.3095+2T>C (MSH6)	ENSP00000477844.1:n.3095+2T>C
ENST00000622629.4:c.902+2T>C (MSH6)	ENSP00000482078.1:n.902+2T>C
NM_000179.2:c.4001+2T>C , LRG_219t1:c.4001+2T>C (MSH6)	NP_000170.1:n.4001+2T>C
NM_001281492.1:c.3611+2T>C (MSH6)	NP_001268421.1:n.3611+2T>C
NM_001281493.1:c.3095+2T>C (MSH6)	NP_001268422.1:n.3095+2T>C
NM_001281494.1:c.3095+2T>C (MSH6)	NP_001268423.1:n.3095+2T>C
XM_005264271.1:c.3704+2T>C (MSH6)	XP_005264328.1:n.3704+2T>C
XM_011532798.1:c.3818+2T>C (MSH6)	XP_011531100.1:n.3818+2T>C
XM_011532799.1:c.3704+2T>C (MSH6)	XP_011531101.1:n.3704+2T>C
XM_011532800.1:c.3704+2T>C (MSH6)	XP_011531102.1:n.3704+2T>C
XM_024452819.1:c.4094+2T>C (MSH6)	XP_024308587.1:n.4094+2T>C
XM_024452820.1:c.3911+2T>C (MSH6)	XP_024308588.1:n.3911+2T>C
XM_024452821.1:c.3797+2T>C (MSH6)	XP_024308589.1:n.3797+2T>C
XM_024452822.1:c.3188+2T>C (MSH6)	XP_024308590.1:n.3188+2T>C
NM_000179.3:c.4001+2T>C (MSH6) MANE Select	NP_000170.1:n.4001+2T>C
NM_001281492.2:c.3611+2T>C (MSH6)	NP_001268421.1:n.3611+2T>C
NM_001281493.2:c.3095+2T>C (MSH6)	NP_001268422.1:n.3095+2T>C
NM_001281494.2:c.3095+2T>C (MSH6)	NP_001268423.1:n.3095+2T>C