Canonical Allele Identifier: CA346761096

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs202066386
• gnomAD v3: 2-47806315-T-G
• gnomAD v4: 2-47806315-T-G
• MyVariant Identifiers: chr2:g.48033454T>G (hg19) ; chr2:g.47806315T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806315T>G , CM000664.2:g.47806315T>G	GRCh38
NC_000002.11:g.48033454T>G , CM000664.1:g.48033454T>G	GRCh37
NC_000002.10:g.47886958T>G	NCBI36
NG_007111.1:g.28169T>G , LRG_219:g.28169T>G
NG_008397.1:g.104361A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3461T>G (MSH6)	ENSP00000406248.2:p.Val1154Gly
ENST00000420813.6:c.3461T>G (MSH6)	ENSP00000390382.2:p.Val1154Gly
ENST00000455383.6:c.3461T>G (MSH6)	ENSP00000397484.2:p.Val1154Gly
ENST00000700004.2:c.3374T>G (MSH6)	ENSP00000514752.2:p.Val1125Gly
ENST00000699999.1:n.4432T>G (MSH6)
ENST00000700000.1:c.2192T>G (MSH6)	ENSP00000514749.1:p.Val731Gly
ENST00000700002.1:c.3764T>G (MSH6)	ENSP00000514750.1:p.Val1255Gly
ENST00000700003.1:c.1213T>G (MSH6)	ENSP00000514751.1:n.1213T>G
ENST00000700004.1:c.2531T>G (MSH6)	ENSP00000514752.1:p.Val844Gly
ENST00000700005.1:n.2609T>G (MSH6)
ENST00000700006.1:n.4916T>G (MSH6)
ENST00000700007.1:n.2353T>G (MSH6)
ENST00000700008.1:n.1927T>G (MSH6)
ENST00000700009.1:n.2422T>G (MSH6)
ENST00000700010.1:n.1167T>G (MSH6)
ENST00000700011.1:n.3052T>G (MSH6)
ENST00000682451.1:n.4433A>C (FBXO11)
ENST00000684712.1:n.4695A>C (FBXO11)
ENST00000234420.11:c.3758T>G (MSH6) MANE Select	ENSP00000234420.5:p.Val1253Gly
ENST00000540021.6:c.3368T>G (MSH6)	ENSP00000446475.1:p.Val1123Gly
ENST00000652107.1:c.3461T>G (MSH6)	ENSP00000498629.1:p.Val1154Gly
ENST00000673637.1:c.3461T>G (MSH6)	ENSP00000501310.1:p.Val1154Gly
ENST00000234420.9:c.3758T>G (MSH6)	ENSP00000234420.4:p.Val1253Gly
ENST00000405808.5:c.169+1880A>C (FBXO11)	ENSP00000385127.1:n.169+1880A>C
ENST00000434234.5:c.*124+1679A>C (FBXO11)	ENSP00000402692.1:n.*124+1679A>C
ENST00000445503.5:c.*3105T>G (MSH6)	ENSP00000405294.1:n.*3105T>G
ENST00000538136.1:c.2852T>G (MSH6)	ENSP00000438580.1:p.Val951Gly
ENST00000540021.5:c.3368T>G (MSH6)	ENSP00000446475.1:p.Val1123Gly
ENST00000614496.4:c.2852T>G (MSH6)	ENSP00000477844.1:p.Val951Gly
ENST00000622629.4:c.660T>G (MSH6)	ENSP00000482078.1:p.Ser220Arg
NM_000179.2:c.3758T>G , LRG_219t1:c.3758T>G (MSH6)	NP_000170.1:p.Val1253Gly
NM_001281492.1:c.3368T>G (MSH6)	NP_001268421.1:p.Val1123Gly
NM_001281493.1:c.2852T>G (MSH6)	NP_001268422.1:p.Val951Gly
NM_001281494.1:c.2852T>G (MSH6)	NP_001268423.1:p.Val951Gly
XM_005264271.1:c.3461T>G (MSH6)	XP_005264328.1:p.Val1154Gly
XM_011532798.1:c.3575T>G (MSH6)	XP_011531100.1:p.Val1192Gly
XM_011532799.1:c.3461T>G (MSH6)	XP_011531101.1:p.Val1154Gly
XM_011532800.1:c.3461T>G (MSH6)	XP_011531102.1:p.Val1154Gly
XM_024452819.1:c.3758T>G (MSH6)	XP_024308587.1:p.Val1253Gly
XM_024452820.1:c.3575T>G (MSH6)	XP_024308588.1:p.Val1192Gly
XM_024452821.1:c.3461T>G (MSH6)	XP_024308589.1:p.Val1154Gly
XM_024452822.1:c.2852T>G (MSH6)	XP_024308590.1:p.Val951Gly
NM_000179.3:c.3758T>G (MSH6) MANE Select	NP_000170.1:p.Val1253Gly
NM_001281492.2:c.3368T>G (MSH6)	NP_001268421.1:p.Val1123Gly
NM_001281493.2:c.2852T>G (MSH6)	NP_001268422.1:p.Val951Gly
NM_001281494.2:c.2852T>G (MSH6)	NP_001268423.1:p.Val951Gly