Canonical Allele Identifier: CA346760819

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1733612
• ClinVar RCV Id: RCV002452494
• dbSNP Id: rs776407427
• MyVariant Identifiers: chr2:g.48033348G>T (hg19) ; chr2:g.47806209G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806209G>T , CM000664.2:g.47806209G>T	GRCh38
NC_000002.11:g.48033348G>T , CM000664.1:g.48033348G>T	GRCh37
NC_000002.10:g.47886852G>T	NCBI36
NG_007111.1:g.28063G>T , LRG_219:g.28063G>T
NG_008397.1:g.104467C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3355G>T (MSH6)	ENSP00000406248.2:p.Gly1119Cys
ENST00000420813.6:c.3355G>T (MSH6)	ENSP00000390382.2:p.Gly1119Cys
ENST00000455383.6:c.3355G>T (MSH6)	ENSP00000397484.2:p.Gly1119Cys
ENST00000700004.2:c.3268G>T (MSH6)	ENSP00000514752.2:p.Gly1090Cys
ENST00000699999.1:n.4326G>T (MSH6)
ENST00000700000.1:c.2086G>T (MSH6)	ENSP00000514749.1:p.Gly696Cys
ENST00000700002.1:c.3658G>T (MSH6)	ENSP00000514750.1:p.Gly1220Cys
ENST00000700003.1:c.1107G>T (MSH6)	ENSP00000514751.1:n.1107G>T
ENST00000700004.1:c.2425G>T (MSH6)	ENSP00000514752.1:p.Gly809Cys
ENST00000700005.1:n.2503G>T (MSH6)
ENST00000700006.1:n.4810G>T (MSH6)
ENST00000700007.1:n.2247G>T (MSH6)
ENST00000700008.1:n.1821G>T (MSH6)
ENST00000700009.1:n.2316G>T (MSH6)
ENST00000700010.1:n.1061G>T (MSH6)
ENST00000700011.1:n.2946G>T (MSH6)
ENST00000682451.1:n.4539C>A (FBXO11)
ENST00000684712.1:n.4801C>A (FBXO11)
ENST00000234420.11:c.3652G>T (MSH6) MANE Select	ENSP00000234420.5:p.Gly1218Cys
ENST00000540021.6:c.3262G>T (MSH6)	ENSP00000446475.1:p.Gly1088Cys
ENST00000652107.1:c.3355G>T (MSH6)	ENSP00000498629.1:p.Gly1119Cys
ENST00000673637.1:c.3355G>T (MSH6)	ENSP00000501310.1:p.Gly1119Cys
ENST00000234420.9:c.3652G>T (MSH6)	ENSP00000234420.4:p.Gly1218Cys
ENST00000405808.5:c.169+1986C>A (FBXO11)	ENSP00000385127.1:n.169+1986C>A
ENST00000434234.5:c.*124+1785C>A (FBXO11)	ENSP00000402692.1:n.*124+1785C>A
ENST00000445503.5:c.*2999G>T (MSH6)	ENSP00000405294.1:n.*2999G>T
ENST00000538136.1:c.2746G>T (MSH6)	ENSP00000438580.1:p.Gly916Cys
ENST00000540021.5:c.3262G>T (MSH6)	ENSP00000446475.1:p.Gly1088Cys
ENST00000614496.4:c.2746G>T (MSH6)	ENSP00000477844.1:p.Gly916Cys
ENST00000622629.4:c.556G>T (MSH6)	ENSP00000482078.1:p.Gly186Cys
NM_000179.2:c.3652G>T , LRG_219t1:c.3652G>T (MSH6)	NP_000170.1:p.Gly1218Cys
NM_001281492.1:c.3262G>T (MSH6)	NP_001268421.1:p.Gly1088Cys
NM_001281493.1:c.2746G>T (MSH6)	NP_001268422.1:p.Gly916Cys
NM_001281494.1:c.2746G>T (MSH6)	NP_001268423.1:p.Gly916Cys
XM_005264271.1:c.3355G>T (MSH6)	XP_005264328.1:p.Gly1119Cys
XM_011532798.1:c.3469G>T (MSH6)	XP_011531100.1:p.Gly1157Cys
XM_011532799.1:c.3355G>T (MSH6)	XP_011531101.1:p.Gly1119Cys
XM_011532800.1:c.3355G>T (MSH6)	XP_011531102.1:p.Gly1119Cys
XM_024452819.1:c.3652G>T (MSH6)	XP_024308587.1:p.Gly1218Cys
XM_024452820.1:c.3469G>T (MSH6)	XP_024308588.1:p.Gly1157Cys
XM_024452821.1:c.3355G>T (MSH6)	XP_024308589.1:p.Gly1119Cys
XM_024452822.1:c.2746G>T (MSH6)	XP_024308590.1:p.Gly916Cys
NM_000179.3:c.3652G>T (MSH6) MANE Select	NP_000170.1:p.Gly1218Cys
NM_001281492.2:c.3262G>T (MSH6)	NP_001268421.1:p.Gly1088Cys
NM_001281493.2:c.2746G>T (MSH6)	NP_001268422.1:p.Gly916Cys
NM_001281494.2:c.2746G>T (MSH6)	NP_001268423.1:p.Gly916Cys