Canonical Allele Identifier: CA071792

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1396379
• ClinVar RCV Id: RCV001902969 ; RCV003585148
• dbSNP Id: rs776407427
• ExAC: 2:48033348 G / A
• gnomAD v2: 2-48033348-G-A
• gnomAD v4: 2-47806209-G-A
• MyVariant Identifiers: chr2:g.48033348G>A (hg19) ; chr2:g.47806209G>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3355G>A (MSH6)	ENSP00000406248.2:p.Gly1119Ser
ENST00000420813.6:c.3355G>A (MSH6)	ENSP00000390382.2:p.Gly1119Ser
ENST00000455383.6:c.3355G>A (MSH6)	ENSP00000397484.2:p.Gly1119Ser
ENST00000700004.2:c.3268G>A (MSH6)	ENSP00000514752.2:p.Gly1090Ser
ENST00000699999.1:n.4326G>A (MSH6)
ENST00000700000.1:c.2086G>A (MSH6)	ENSP00000514749.1:p.Gly696Ser
ENST00000700002.1:c.3658G>A (MSH6)	ENSP00000514750.1:p.Gly1220Ser
ENST00000700003.1:c.1107G>A (MSH6)	ENSP00000514751.1:n.1107G>A
ENST00000700004.1:c.2425G>A (MSH6)	ENSP00000514752.1:p.Gly809Ser
ENST00000700005.1:n.2503G>A (MSH6)
ENST00000700006.1:n.4810G>A (MSH6)
ENST00000700007.1:n.2247G>A (MSH6)
ENST00000700008.1:n.1821G>A (MSH6)
ENST00000700009.1:n.2316G>A (MSH6)
ENST00000700010.1:n.1061G>A (MSH6)
ENST00000700011.1:n.2946G>A (MSH6)
ENST00000682451.1:n.4539C>T (FBXO11)
ENST00000684712.1:n.4801C>T (FBXO11)
ENST00000234420.11:c.3652G>A (MSH6) MANE Select	ENSP00000234420.5:p.Gly1218Ser
ENST00000540021.6:c.3262G>A (MSH6)	ENSP00000446475.1:p.Gly1088Ser
ENST00000652107.1:c.3355G>A (MSH6)	ENSP00000498629.1:p.Gly1119Ser
ENST00000673637.1:c.3355G>A (MSH6)	ENSP00000501310.1:p.Gly1119Ser
ENST00000234420.9:c.3652G>A (MSH6)	ENSP00000234420.4:p.Gly1218Ser
ENST00000405808.5:c.169+1986C>T (FBXO11)	ENSP00000385127.1:n.169+1986C>T
ENST00000434234.5:c.*124+1785C>T (FBXO11)	ENSP00000402692.1:n.*124+1785C>T
ENST00000445503.5:c.*2999G>A (MSH6)	ENSP00000405294.1:n.*2999G>A
ENST00000538136.1:c.2746G>A (MSH6)	ENSP00000438580.1:p.Gly916Ser
ENST00000540021.5:c.3262G>A (MSH6)	ENSP00000446475.1:p.Gly1088Ser
ENST00000614496.4:c.2746G>A (MSH6)	ENSP00000477844.1:p.Gly916Ser
ENST00000622629.4:c.556G>A (MSH6)	ENSP00000482078.1:p.Gly186Ser
NM_000179.2:c.3652G>A , LRG_219t1:c.3652G>A (MSH6)	NP_000170.1:p.Gly1218Ser
NM_001281492.1:c.3262G>A (MSH6)	NP_001268421.1:p.Gly1088Ser
NM_001281493.1:c.2746G>A (MSH6)	NP_001268422.1:p.Gly916Ser
NM_001281494.1:c.2746G>A (MSH6)	NP_001268423.1:p.Gly916Ser
XM_005264271.1:c.3355G>A (MSH6)	XP_005264328.1:p.Gly1119Ser
XM_011532798.1:c.3469G>A (MSH6)	XP_011531100.1:p.Gly1157Ser
XM_011532799.1:c.3355G>A (MSH6)	XP_011531101.1:p.Gly1119Ser
XM_011532800.1:c.3355G>A (MSH6)	XP_011531102.1:p.Gly1119Ser
XM_024452819.1:c.3652G>A (MSH6)	XP_024308587.1:p.Gly1218Ser
XM_024452820.1:c.3469G>A (MSH6)	XP_024308588.1:p.Gly1157Ser
XM_024452821.1:c.3355G>A (MSH6)	XP_024308589.1:p.Gly1119Ser
XM_024452822.1:c.2746G>A (MSH6)	XP_024308590.1:p.Gly916Ser
NM_000179.3:c.3652G>A (MSH6) MANE Select	NP_000170.1:p.Gly1218Ser
NM_001281492.2:c.3262G>A (MSH6)	NP_001268421.1:p.Gly1088Ser
NM_001281493.2:c.2746G>A (MSH6)	NP_001268422.1:p.Gly916Ser
NM_001281494.2:c.2746G>A (MSH6)	NP_001268423.1:p.Gly916Ser