Canonical Allele Identifier: CA348519

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 220223
• ClinVar RCV Id: RCV000204275 ; RCV000564868
• dbSNP Id: rs786203968
• gnomAD v4: 2-47804997-A-T
• MyVariant Identifiers: chr2:g.48032136A>T (hg19) ; chr2:g.47804997A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47804997A>T , CM000664.2:g.47804997A>T	GRCh38
NC_000002.11:g.48032136A>T , CM000664.1:g.48032136A>T	GRCh37
NC_000002.10:g.47885640A>T	NCBI36
NG_007111.1:g.26851A>T , LRG_219:g.26851A>T
NG_008397.1:g.105679T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3229A>T (MSH6)	ENSP00000406248.2:p.Arg1077Ter
ENST00000420813.6:c.3229A>T (MSH6)	ENSP00000390382.2:p.Arg1077Ter
ENST00000455383.6:c.3229A>T (MSH6)	ENSP00000397484.2:p.Arg1077Ter
ENST00000700004.2:c.3173-621A>T (MSH6)	ENSP00000514752.2:n.3173-621A>T
ENST00000699999.1:n.3610A>T (MSH6)
ENST00000700000.1:c.1960A>T (MSH6)	ENSP00000514749.1:p.Arg654Ter
ENST00000700002.1:c.3532A>T (MSH6)	ENSP00000514750.1:p.Arg1178Ter
ENST00000700003.1:c.981A>T (MSH6)	ENSP00000514751.1:n.981A>T
ENST00000700004.1:c.2330-621A>T (MSH6)	ENSP00000514752.1:n.2330-621A>T
ENST00000700005.1:n.2377A>T (MSH6)
ENST00000700006.1:n.3598A>T (MSH6)
ENST00000700007.1:n.1531A>T (MSH6)
ENST00000700008.1:n.1105A>T (MSH6)
ENST00000700009.1:n.1104A>T (MSH6)
ENST00000700010.1:n.935A>T (MSH6)
ENST00000700011.1:n.2230A>T (MSH6)
ENST00000234420.11:c.3526A>T (MSH6) MANE Select	ENSP00000234420.5:p.Arg1176Ter
ENST00000540021.6:c.3136A>T (MSH6)	ENSP00000446475.1:p.Arg1046Ter
ENST00000652107.1:c.3229A>T (MSH6)	ENSP00000498629.1:p.Arg1077Ter
ENST00000673637.1:c.3229A>T (MSH6)	ENSP00000501310.1:p.Arg1077Ter
ENST00000234420.9:c.3526A>T (MSH6)	ENSP00000234420.4:p.Arg1176Ter
ENST00000405808.5:c.169+3198T>A (FBXO11)	ENSP00000385127.1:n.169+3198T>A
ENST00000434234.5:c.*124+2997T>A (FBXO11)	ENSP00000402692.1:n.*124+2997T>A
ENST00000445503.5:c.*2873A>T (MSH6)	ENSP00000405294.1:n.*2873A>T
ENST00000538136.1:c.2620A>T (MSH6)	ENSP00000438580.1:p.Arg874Ter
ENST00000540021.5:c.3136A>T (MSH6)	ENSP00000446475.1:p.Arg1046Ter
ENST00000614496.4:c.2620A>T (MSH6)	ENSP00000477844.1:p.Arg874Ter
ENST00000622629.4:c.430A>T (MSH6)	ENSP00000482078.1:p.Arg144Ter
NM_000179.2:c.3526A>T , LRG_219t1:c.3526A>T (MSH6)	NP_000170.1:p.Arg1176Ter
NM_001281492.1:c.3136A>T (MSH6)	NP_001268421.1:p.Arg1046Ter
NM_001281493.1:c.2620A>T (MSH6)	NP_001268422.1:p.Arg874Ter
NM_001281494.1:c.2620A>T (MSH6)	NP_001268423.1:p.Arg874Ter
XM_005264271.1:c.3229A>T (MSH6)	XP_005264328.1:p.Arg1077Ter
XM_011532798.1:c.3343A>T (MSH6)	XP_011531100.1:p.Arg1115Ter
XM_011532799.1:c.3229A>T (MSH6)	XP_011531101.1:p.Arg1077Ter
XM_011532800.1:c.3229A>T (MSH6)	XP_011531102.1:p.Arg1077Ter
XM_024452819.1:c.3526A>T (MSH6)	XP_024308587.1:p.Arg1176Ter
XM_024452820.1:c.3343A>T (MSH6)	XP_024308588.1:p.Arg1115Ter
XM_024452821.1:c.3229A>T (MSH6)	XP_024308589.1:p.Arg1077Ter
XM_024452822.1:c.2620A>T (MSH6)	XP_024308590.1:p.Arg874Ter
NM_000179.3:c.3526A>T (MSH6) MANE Select	NP_000170.1:p.Arg1176Ter
NM_001281492.2:c.3136A>T (MSH6)	NP_001268421.1:p.Arg1046Ter
NM_001281493.2:c.2620A>T (MSH6)	NP_001268422.1:p.Arg874Ter
NM_001281494.2:c.2620A>T (MSH6)	NP_001268423.1:p.Arg874Ter