Canonical Allele Identifier: CA346761655

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2609821
• ClinVar RCV Id: RCV003376041 ; RCV003759830
• dbSNP Id: rs2104581011
• gnomAD v4: 2-47806796-G-T
• MyVariant Identifiers: chr2:g.48033935G>T (hg19) ; chr2:g.47806796G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806796G>T , CM000664.2:g.47806796G>T	GRCh38
NC_000002.11:g.48033935G>T , CM000664.1:g.48033935G>T	GRCh37
NC_000002.10:g.47887439G>T	NCBI36
NG_007111.1:g.28650G>T , LRG_219:g.28650G>T
NG_008397.1:g.103880C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3722G>T (MSH6)	ENSP00000406248.2:p.Ser1241Ile
ENST00000420813.6:c.3722G>T (MSH6)	ENSP00000390382.2:p.Ser1241Ile
ENST00000455383.6:c.3722G>T (MSH6)	ENSP00000397484.2:p.Ser1241Ile
ENST00000700004.2:c.3635G>T (MSH6)	ENSP00000514752.2:p.Ser1212Ile
ENST00000699999.1:n.4693G>T (MSH6)
ENST00000700000.1:c.2453G>T (MSH6)	ENSP00000514749.1:p.Ser818Ile
ENST00000700002.1:c.4025G>T (MSH6)	ENSP00000514750.1:p.Ser1342Ile
ENST00000700003.1:c.1474G>T (MSH6)	ENSP00000514751.1:n.1474G>T
ENST00000700004.1:c.2792G>T (MSH6)	ENSP00000514752.1:p.Ser931Ile
ENST00000700005.1:n.2997G>T (MSH6)
ENST00000700007.1:n.2614G>T (MSH6)
ENST00000700008.1:n.2281G>T (MSH6)
ENST00000700009.1:n.2683G>T (MSH6)
ENST00000700010.1:n.1428G>T (MSH6)
ENST00000700011.1:n.3313G>T (MSH6)
ENST00000682451.1:n.3952C>A (FBXO11)
ENST00000684712.1:n.4214C>A (FBXO11)
ENST00000234420.11:c.4019G>T (MSH6) MANE Select	ENSP00000234420.5:p.Ser1340Ile
ENST00000540021.6:c.3629G>T (MSH6)	ENSP00000446475.1:p.Ser1210Ile
ENST00000652107.1:c.3722G>T (MSH6)	ENSP00000498629.1:p.Ser1241Ile
ENST00000673637.1:c.3722G>T (MSH6)	ENSP00000501310.1:p.Ser1241Ile
ENST00000234420.9:c.4019G>T (MSH6)	ENSP00000234420.4:p.Ser1340Ile
ENST00000405808.5:c.169+1399C>A (FBXO11)	ENSP00000385127.1:n.169+1399C>A
ENST00000434234.5:c.*124+1198C>A (FBXO11)	ENSP00000402692.1:n.*124+1198C>A
ENST00000445503.5:c.*3366G>T (MSH6)	ENSP00000405294.1:n.*3366G>T
ENST00000465204.5:n.3114C>A (FBXO11)
ENST00000538136.1:c.3113G>T (MSH6)	ENSP00000438580.1:p.Ser1038Ile
ENST00000540021.5:c.3629G>T (MSH6)	ENSP00000446475.1:p.Ser1210Ile
ENST00000614496.4:c.3113G>T (MSH6)	ENSP00000477844.1:p.Ser1038Ile
ENST00000622629.4:c.920G>T (MSH6)	ENSP00000482078.1:p.Ser307Ile
NM_000179.2:c.4019G>T , LRG_219t1:c.4019G>T (MSH6)	NP_000170.1:p.Ser1340Ile
NM_001281492.1:c.3629G>T (MSH6)	NP_001268421.1:p.Ser1210Ile
NM_001281493.1:c.3113G>T (MSH6)	NP_001268422.1:p.Ser1038Ile
NM_001281494.1:c.3113G>T (MSH6)	NP_001268423.1:p.Ser1038Ile
XM_005264271.1:c.3722G>T (MSH6)	XP_005264328.1:p.Ser1241Ile
XM_011532798.1:c.3836G>T (MSH6)	XP_011531100.1:p.Ser1279Ile
XM_011532799.1:c.3722G>T (MSH6)	XP_011531101.1:p.Ser1241Ile
XM_011532800.1:c.3722G>T (MSH6)	XP_011531102.1:p.Ser1241Ile
XM_024452819.1:c.4112G>T (MSH6)	XP_024308587.1:p.Ser1371Ile
XM_024452820.1:c.3929G>T (MSH6)	XP_024308588.1:p.Ser1310Ile
XM_024452821.1:c.3815G>T (MSH6)	XP_024308589.1:p.Ser1272Ile
XM_024452822.1:c.3206G>T (MSH6)	XP_024308590.1:p.Ser1069Ile
NM_000179.3:c.4019G>T (MSH6) MANE Select	NP_000170.1:p.Ser1340Ile
NM_001281492.2:c.3629G>T (MSH6)	NP_001268421.1:p.Ser1210Ile
NM_001281493.2:c.3113G>T (MSH6)	NP_001268422.1:p.Ser1038Ile
NM_001281494.2:c.3113G>T (MSH6)	NP_001268423.1:p.Ser1038Ile