Canonical Allele Identifier: CA1649463

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs780651956
• ExAC: 2:48032879 C / G
• gnomAD v2: 2-48032879-C-G
• MyVariant Identifiers: chr2:g.48032879C>G (hg19) ; chr2:g.48032879_48032882delinsGTAT (hg19) ; chr2:g.47805740_47805743delinsGTAT (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805740C>G , CM000664.2:g.47805740C>G	GRCh38
NC_000002.11:g.48032879C>G , CM000664.1:g.48032879C>G	GRCh37
NC_000002.10:g.47886383C>G	NCBI36
NG_007111.1:g.27594C>G , LRG_219:g.27594C>G
NG_008397.1:g.104936G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3349+33C>G (MSH6)	ENSP00000406248.2:n.3349+33C>G
ENST00000420813.6:c.3349+33C>G (MSH6)	ENSP00000390382.2:n.3349+33C>G
ENST00000455383.6:c.3349+33C>G (MSH6)	ENSP00000397484.2:n.3349+33C>G
ENST00000700004.2:c.3262+33C>G (MSH6)	ENSP00000514752.2:n.3262+33C>G
ENST00000699999.1:n.4320+33C>G (MSH6)
ENST00000700000.1:c.2080+33C>G (MSH6)	ENSP00000514749.1:n.2080+33C>G
ENST00000700002.1:c.3652+33C>G (MSH6)	ENSP00000514750.1:n.3652+33C>G
ENST00000700003.1:c.1101+33C>G (MSH6)	ENSP00000514751.1:n.1101+33C>G
ENST00000700004.1:c.2419+33C>G (MSH6)	ENSP00000514752.1:n.2419+33C>G
ENST00000700005.1:n.2497+33C>G (MSH6)
ENST00000700006.1:n.4341C>G (MSH6)
ENST00000700007.1:n.2241+33C>G (MSH6)
ENST00000700008.1:n.1815+33C>G (MSH6)
ENST00000700009.1:n.1847C>G (MSH6)
ENST00000700010.1:n.1055+33C>G (MSH6)
ENST00000700011.1:n.2940+33C>G (MSH6)
ENST00000234420.11:c.3646+33C>G (MSH6) MANE Select	ENSP00000234420.5:n.3646+33C>G
ENST00000540021.6:c.3256+33C>G (MSH6)	ENSP00000446475.1:n.3256+33C>G
ENST00000652107.1:c.3349+33C>G (MSH6)	ENSP00000498629.1:n.3349+33C>G
ENST00000673637.1:c.3349+33C>G (MSH6)	ENSP00000501310.1:n.3349+33C>G
ENST00000234420.9:c.3646+33C>G (MSH6)	ENSP00000234420.4:n.3646+33C>G
ENST00000405808.5:c.169+2455G>C (FBXO11)	ENSP00000385127.1:n.169+2455G>C
ENST00000434234.5:c.*124+2254G>C (FBXO11)	ENSP00000402692.1:n.*124+2254G>C
ENST00000445503.5:c.*2993+33C>G (MSH6)	ENSP00000405294.1:n.*2993+33C>G
ENST00000538136.1:c.2740+33C>G (MSH6)	ENSP00000438580.1:n.2740+33C>G
ENST00000540021.5:c.3256+33C>G (MSH6)	ENSP00000446475.1:n.3256+33C>G
ENST00000614496.4:c.2740+33C>G (MSH6)	ENSP00000477844.1:n.2740+33C>G
ENST00000622629.4:c.550+33C>G (MSH6)	ENSP00000482078.1:n.550+33C>G
NM_000179.2:c.3646+33C>G , LRG_219t1:c.3646+33C>G (MSH6)	NP_000170.1:n.3646+33C>G
NM_001281492.1:c.3256+33C>G (MSH6)	NP_001268421.1:n.3256+33C>G
NM_001281493.1:c.2740+33C>G (MSH6)	NP_001268422.1:n.2740+33C>G
NM_001281494.1:c.2740+33C>G (MSH6)	NP_001268423.1:n.2740+33C>G
XM_005264271.1:c.3349+33C>G (MSH6)	XP_005264328.1:n.3349+33C>G
XM_011532798.1:c.3463+33C>G (MSH6)	XP_011531100.1:n.3463+33C>G
XM_011532799.1:c.3349+33C>G (MSH6)	XP_011531101.1:n.3349+33C>G
XM_011532800.1:c.3349+33C>G (MSH6)	XP_011531102.1:n.3349+33C>G
XM_024452819.1:c.3646+33C>G (MSH6)	XP_024308587.1:n.3646+33C>G
XM_024452820.1:c.3463+33C>G (MSH6)	XP_024308588.1:n.3463+33C>G
XM_024452821.1:c.3349+33C>G (MSH6)	XP_024308589.1:n.3349+33C>G
XM_024452822.1:c.2740+33C>G (MSH6)	XP_024308590.1:n.2740+33C>G
NM_000179.3:c.3646+33C>G (MSH6) MANE Select	NP_000170.1:n.3646+33C>G
NM_001281492.2:c.3256+33C>G (MSH6)	NP_001268421.1:n.3256+33C>G
NM_001281493.2:c.2740+33C>G (MSH6)	NP_001268422.1:n.2740+33C>G
NM_001281494.2:c.2740+33C>G (MSH6)	NP_001268423.1:n.2740+33C>G