Canonical Allele Identifier: CA346761378

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1719022
• ClinVar RCV Id: RCV002296774
• dbSNP Id: rs878853741
• gnomAD v3: 2-47806531-G-C
• gnomAD v4: 2-47806531-G-C
• MyVariant Identifiers: chr2:g.48033670G>C (hg19) ; chr2:g.47806531G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806531G>C , CM000664.2:g.47806531G>C	GRCh38
NC_000002.11:g.48033670G>C , CM000664.1:g.48033670G>C	GRCh37
NC_000002.10:g.47887174G>C	NCBI36
NG_007111.1:g.28385G>C , LRG_219:g.28385G>C
NG_008397.1:g.104145C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3584G>C (MSH6)	ENSP00000406248.2:p.Cys1195Ser
ENST00000420813.6:c.3584G>C (MSH6)	ENSP00000390382.2:p.Cys1195Ser
ENST00000455383.6:c.3584G>C (MSH6)	ENSP00000397484.2:p.Cys1195Ser
ENST00000700004.2:c.3497G>C (MSH6)	ENSP00000514752.2:p.Cys1166Ser
ENST00000699999.1:n.4555G>C (MSH6)
ENST00000700000.1:c.2315G>C (MSH6)	ENSP00000514749.1:p.Cys772Ser
ENST00000700002.1:c.3887G>C (MSH6)	ENSP00000514750.1:p.Cys1296Ser
ENST00000700003.1:c.1336G>C (MSH6)	ENSP00000514751.1:n.1336G>C
ENST00000700004.1:c.2654G>C (MSH6)	ENSP00000514752.1:p.Cys885Ser
ENST00000700005.1:n.2732G>C (MSH6)
ENST00000700006.1:n.5039G>C (MSH6)
ENST00000700007.1:n.2476G>C (MSH6)
ENST00000700008.1:n.2143G>C (MSH6)
ENST00000700009.1:n.2545G>C (MSH6)
ENST00000700010.1:n.1290G>C (MSH6)
ENST00000700011.1:n.3175G>C (MSH6)
ENST00000682451.1:n.4217C>G (FBXO11)
ENST00000684712.1:n.4479C>G (FBXO11)
ENST00000234420.11:c.3881G>C (MSH6) MANE Select	ENSP00000234420.5:p.Cys1294Ser
ENST00000540021.6:c.3491G>C (MSH6)	ENSP00000446475.1:p.Cys1164Ser
ENST00000652107.1:c.3584G>C (MSH6)	ENSP00000498629.1:p.Cys1195Ser
ENST00000673637.1:c.3584G>C (MSH6)	ENSP00000501310.1:p.Cys1195Ser
ENST00000234420.9:c.3881G>C (MSH6)	ENSP00000234420.4:p.Cys1294Ser
ENST00000405808.5:c.169+1664C>G (FBXO11)	ENSP00000385127.1:n.169+1664C>G
ENST00000434234.5:c.*124+1463C>G (FBXO11)	ENSP00000402692.1:n.*124+1463C>G
ENST00000445503.5:c.*3228G>C (MSH6)	ENSP00000405294.1:n.*3228G>C
ENST00000538136.1:c.2975G>C (MSH6)	ENSP00000438580.1:p.Cys992Ser
ENST00000540021.5:c.3491G>C (MSH6)	ENSP00000446475.1:p.Cys1164Ser
ENST00000614496.4:c.2975G>C (MSH6)	ENSP00000477844.1:p.Cys992Ser
ENST00000622629.4:c.782G>C (MSH6)	ENSP00000482078.1:p.Cys261Ser
NM_000179.2:c.3881G>C , LRG_219t1:c.3881G>C (MSH6)	NP_000170.1:p.Cys1294Ser
NM_001281492.1:c.3491G>C (MSH6)	NP_001268421.1:p.Cys1164Ser
NM_001281493.1:c.2975G>C (MSH6)	NP_001268422.1:p.Cys992Ser
NM_001281494.1:c.2975G>C (MSH6)	NP_001268423.1:p.Cys992Ser
XM_005264271.1:c.3584G>C (MSH6)	XP_005264328.1:p.Cys1195Ser
XM_011532798.1:c.3698G>C (MSH6)	XP_011531100.1:p.Cys1233Ser
XM_011532799.1:c.3584G>C (MSH6)	XP_011531101.1:p.Cys1195Ser
XM_011532800.1:c.3584G>C (MSH6)	XP_011531102.1:p.Cys1195Ser
XM_024452819.1:c.3974G>C (MSH6)	XP_024308587.1:p.Cys1325Ser
XM_024452820.1:c.3791G>C (MSH6)	XP_024308588.1:p.Cys1264Ser
XM_024452821.1:c.3677G>C (MSH6)	XP_024308589.1:p.Cys1226Ser
XM_024452822.1:c.3068G>C (MSH6)	XP_024308590.1:p.Cys1023Ser
NM_000179.3:c.3881G>C (MSH6) MANE Select	NP_000170.1:p.Cys1294Ser
NM_001281492.2:c.3491G>C (MSH6)	NP_001268421.1:p.Cys1164Ser
NM_001281493.2:c.2975G>C (MSH6)	NP_001268422.1:p.Cys992Ser
NM_001281494.2:c.2975G>C (MSH6)	NP_001268423.1:p.Cys992Ser