Canonical Allele Identifier: CA346761517

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs876661174
• gnomAD v4: 2-47806597-G-T
• MyVariant Identifiers: chr2:g.48033736G>T (hg19) ; chr2:g.47806597G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806597G>T , CM000664.2:g.47806597G>T	GRCh38
NC_000002.11:g.48033736G>T , CM000664.1:g.48033736G>T	GRCh37
NC_000002.10:g.47887240G>T	NCBI36
NG_007111.1:g.28451G>T , LRG_219:g.28451G>T
NG_008397.1:g.104079C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3650G>T (MSH6)	ENSP00000406248.2:p.Gly1217Val
ENST00000420813.6:c.3650G>T (MSH6)	ENSP00000390382.2:p.Gly1217Val
ENST00000455383.6:c.3650G>T (MSH6)	ENSP00000397484.2:p.Gly1217Val
ENST00000700004.2:c.3563G>T (MSH6)	ENSP00000514752.2:p.Gly1188Val
ENST00000699999.1:n.4621G>T (MSH6)
ENST00000700000.1:c.2381G>T (MSH6)	ENSP00000514749.1:p.Gly794Val
ENST00000700002.1:c.3953G>T (MSH6)	ENSP00000514750.1:p.Gly1318Val
ENST00000700003.1:c.1402G>T (MSH6)	ENSP00000514751.1:n.1402G>T
ENST00000700004.1:c.2720G>T (MSH6)	ENSP00000514752.1:p.Gly907Val
ENST00000700005.1:n.2798G>T (MSH6)
ENST00000700006.1:n.5105G>T (MSH6)
ENST00000700007.1:n.2542G>T (MSH6)
ENST00000700008.1:n.2209G>T (MSH6)
ENST00000700009.1:n.2611G>T (MSH6)
ENST00000700010.1:n.1356G>T (MSH6)
ENST00000700011.1:n.3241G>T (MSH6)
ENST00000682451.1:n.4151C>A (FBXO11)
ENST00000684712.1:n.4413C>A (FBXO11)
ENST00000234420.11:c.3947G>T (MSH6) MANE Select	ENSP00000234420.5:p.Gly1316Val
ENST00000540021.6:c.3557G>T (MSH6)	ENSP00000446475.1:p.Gly1186Val
ENST00000652107.1:c.3650G>T (MSH6)	ENSP00000498629.1:p.Gly1217Val
ENST00000673637.1:c.3650G>T (MSH6)	ENSP00000501310.1:p.Gly1217Val
ENST00000234420.9:c.3947G>T (MSH6)	ENSP00000234420.4:p.Gly1316Val
ENST00000405808.5:c.169+1598C>A (FBXO11)	ENSP00000385127.1:n.169+1598C>A
ENST00000434234.5:c.*124+1397C>A (FBXO11)	ENSP00000402692.1:n.*124+1397C>A
ENST00000445503.5:c.*3294G>T (MSH6)	ENSP00000405294.1:n.*3294G>T
ENST00000538136.1:c.3041G>T (MSH6)	ENSP00000438580.1:p.Gly1014Val
ENST00000540021.5:c.3557G>T (MSH6)	ENSP00000446475.1:p.Gly1186Val
ENST00000614496.4:c.3041G>T (MSH6)	ENSP00000477844.1:p.Gly1014Val
ENST00000622629.4:c.848G>T (MSH6)	ENSP00000482078.1:p.Gly283Val
NM_000179.2:c.3947G>T , LRG_219t1:c.3947G>T (MSH6)	NP_000170.1:p.Gly1316Val
NM_001281492.1:c.3557G>T (MSH6)	NP_001268421.1:p.Gly1186Val
NM_001281493.1:c.3041G>T (MSH6)	NP_001268422.1:p.Gly1014Val
NM_001281494.1:c.3041G>T (MSH6)	NP_001268423.1:p.Gly1014Val
XM_005264271.1:c.3650G>T (MSH6)	XP_005264328.1:p.Gly1217Val
XM_011532798.1:c.3764G>T (MSH6)	XP_011531100.1:p.Gly1255Val
XM_011532799.1:c.3650G>T (MSH6)	XP_011531101.1:p.Gly1217Val
XM_011532800.1:c.3650G>T (MSH6)	XP_011531102.1:p.Gly1217Val
XM_024452819.1:c.4040G>T (MSH6)	XP_024308587.1:p.Gly1347Val
XM_024452820.1:c.3857G>T (MSH6)	XP_024308588.1:p.Gly1286Val
XM_024452821.1:c.3743G>T (MSH6)	XP_024308589.1:p.Gly1248Val
XM_024452822.1:c.3134G>T (MSH6)	XP_024308590.1:p.Gly1045Val
NM_000179.3:c.3947G>T (MSH6) MANE Select	NP_000170.1:p.Gly1316Val
NM_001281492.2:c.3557G>T (MSH6)	NP_001268421.1:p.Gly1186Val
NM_001281493.2:c.3041G>T (MSH6)	NP_001268422.1:p.Gly1014Val
NM_001281494.2:c.3041G>T (MSH6)	NP_001268423.1:p.Gly1014Val