Canonical Allele Identifier: CA346761545

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2975991
• ClinVar RCV Id: RCV003834077
• MyVariant Identifiers: chr2:g.48033751G>C (hg19) ; chr2:g.47806612G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806612G>C , CM000664.2:g.47806612G>C	GRCh38
NC_000002.11:g.48033751G>C , CM000664.1:g.48033751G>C	GRCh37
NC_000002.10:g.47887255G>C	NCBI36
NG_007111.1:g.28466G>C , LRG_219:g.28466G>C
NG_008397.1:g.104064C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3665G>C (MSH6)	ENSP00000406248.2:p.Arg1222Thr
ENST00000420813.6:c.3665G>C (MSH6)	ENSP00000390382.2:p.Arg1222Thr
ENST00000455383.6:c.3665G>C (MSH6)	ENSP00000397484.2:p.Arg1222Thr
ENST00000700004.2:c.3578G>C (MSH6)	ENSP00000514752.2:p.Arg1193Thr
ENST00000699999.1:n.4636G>C (MSH6)
ENST00000700000.1:c.2396G>C (MSH6)	ENSP00000514749.1:p.Arg799Thr
ENST00000700002.1:c.3968G>C (MSH6)	ENSP00000514750.1:p.Arg1323Thr
ENST00000700003.1:c.1417G>C (MSH6)	ENSP00000514751.1:n.1417G>C
ENST00000700004.1:c.2735G>C (MSH6)	ENSP00000514752.1:p.Arg912Thr
ENST00000700005.1:n.2813G>C (MSH6)
ENST00000700006.1:n.5120G>C (MSH6)
ENST00000700007.1:n.2557G>C (MSH6)
ENST00000700008.1:n.2224G>C (MSH6)
ENST00000700009.1:n.2626G>C (MSH6)
ENST00000700010.1:n.1371G>C (MSH6)
ENST00000700011.1:n.3256G>C (MSH6)
ENST00000682451.1:n.4136C>G (FBXO11)
ENST00000684712.1:n.4398C>G (FBXO11)
ENST00000234420.11:c.3962G>C (MSH6) MANE Select	ENSP00000234420.5:p.Arg1321Thr
ENST00000540021.6:c.3572G>C (MSH6)	ENSP00000446475.1:p.Arg1191Thr
ENST00000652107.1:c.3665G>C (MSH6)	ENSP00000498629.1:p.Arg1222Thr
ENST00000673637.1:c.3665G>C (MSH6)	ENSP00000501310.1:p.Arg1222Thr
ENST00000234420.9:c.3962G>C (MSH6)	ENSP00000234420.4:p.Arg1321Thr
ENST00000405808.5:c.169+1583C>G (FBXO11)	ENSP00000385127.1:n.169+1583C>G
ENST00000434234.5:c.*124+1382C>G (FBXO11)	ENSP00000402692.1:n.*124+1382C>G
ENST00000445503.5:c.*3309G>C (MSH6)	ENSP00000405294.1:n.*3309G>C
ENST00000538136.1:c.3056G>C (MSH6)	ENSP00000438580.1:p.Arg1019Thr
ENST00000540021.5:c.3572G>C (MSH6)	ENSP00000446475.1:p.Arg1191Thr
ENST00000614496.4:c.3056G>C (MSH6)	ENSP00000477844.1:p.Arg1019Thr
ENST00000622629.4:c.863G>C (MSH6)	ENSP00000482078.1:p.Arg288Thr
NM_000179.2:c.3962G>C , LRG_219t1:c.3962G>C (MSH6)	NP_000170.1:p.Arg1321Thr
NM_001281492.1:c.3572G>C (MSH6)	NP_001268421.1:p.Arg1191Thr
NM_001281493.1:c.3056G>C (MSH6)	NP_001268422.1:p.Arg1019Thr
NM_001281494.1:c.3056G>C (MSH6)	NP_001268423.1:p.Arg1019Thr
XM_005264271.1:c.3665G>C (MSH6)	XP_005264328.1:p.Arg1222Thr
XM_011532798.1:c.3779G>C (MSH6)	XP_011531100.1:p.Arg1260Thr
XM_011532799.1:c.3665G>C (MSH6)	XP_011531101.1:p.Arg1222Thr
XM_011532800.1:c.3665G>C (MSH6)	XP_011531102.1:p.Arg1222Thr
XM_024452819.1:c.4055G>C (MSH6)	XP_024308587.1:p.Arg1352Thr
XM_024452820.1:c.3872G>C (MSH6)	XP_024308588.1:p.Arg1291Thr
XM_024452821.1:c.3758G>C (MSH6)	XP_024308589.1:p.Arg1253Thr
XM_024452822.1:c.3149G>C (MSH6)	XP_024308590.1:p.Arg1050Thr
NM_000179.3:c.3962G>C (MSH6) MANE Select	NP_000170.1:p.Arg1321Thr
NM_001281492.2:c.3572G>C (MSH6)	NP_001268421.1:p.Arg1191Thr
NM_001281493.2:c.3056G>C (MSH6)	NP_001268422.1:p.Arg1019Thr
NM_001281494.2:c.3056G>C (MSH6)	NP_001268423.1:p.Arg1019Thr