Canonical Allele Identifier: CA346758763

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs35642130
• MyVariant Identifiers: chr2:g.48030740G>C (hg19) ; chr2:g.47803601G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803601G>C , CM000664.2:g.47803601G>C	GRCh38
NC_000002.11:g.48030740G>C , CM000664.1:g.48030740G>C	GRCh37
NC_000002.10:g.47884244G>C	NCBI36
NG_007111.1:g.25455G>C , LRG_219:g.25455G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3057G>C (MSH6)	ENSP00000406248.2:p.Glu1019Asp
ENST00000420813.6:c.3057G>C (MSH6)	ENSP00000390382.2:p.Glu1019Asp
ENST00000455383.6:c.3057G>C (MSH6)	ENSP00000397484.2:p.Glu1019Asp
ENST00000700004.2:c.3173-2017G>C (MSH6)	ENSP00000514752.2:n.3173-2017G>C
ENST00000699999.1:n.3438G>C (MSH6)
ENST00000700000.1:c.1788G>C (MSH6)	ENSP00000514749.1:p.Glu596Asp
ENST00000700002.1:c.3360G>C (MSH6)	ENSP00000514750.1:p.Glu1120Asp
ENST00000700003.1:c.809G>C (MSH6)	ENSP00000514751.1:n.809G>C
ENST00000700004.1:c.2330-2017G>C (MSH6)	ENSP00000514752.1:n.2330-2017G>C
ENST00000700005.1:n.2205G>C (MSH6)
ENST00000700006.1:n.2202G>C (MSH6)
ENST00000700007.1:n.1359G>C (MSH6)
ENST00000700008.1:n.933G>C (MSH6)
ENST00000700009.1:n.932G>C (MSH6)
ENST00000700010.1:n.763G>C (MSH6)
ENST00000700011.1:n.834G>C (MSH6)
ENST00000234420.11:c.3354G>C (MSH6) MANE Select	ENSP00000234420.5:p.Glu1118Asp
ENST00000540021.6:c.2964G>C (MSH6)	ENSP00000446475.1:p.Glu988Asp
ENST00000652107.1:c.3057G>C (MSH6)	ENSP00000498629.1:p.Glu1019Asp
ENST00000673637.1:c.3057G>C (MSH6)	ENSP00000501310.1:p.Glu1019Asp
ENST00000234420.9:c.3354G>C (MSH6)	ENSP00000234420.4:p.Glu1118Asp
ENST00000405808.5:c.169+4594C>G (FBXO11)	ENSP00000385127.1:n.169+4594C>G
ENST00000434234.5:c.*124+4393C>G (FBXO11)	ENSP00000402692.1:n.*124+4393C>G
ENST00000445503.5:c.*2701G>C (MSH6)	ENSP00000405294.1:n.*2701G>C
ENST00000538136.1:c.2448G>C (MSH6)	ENSP00000438580.1:p.Glu816Asp
ENST00000540021.5:c.2964G>C (MSH6)	ENSP00000446475.1:p.Glu988Asp
ENST00000614496.4:c.2448G>C (MSH6)	ENSP00000477844.1:p.Glu816Asp
ENST00000622629.4:c.258G>C (MSH6)	ENSP00000482078.1:p.Glu86Asp
NM_000179.2:c.3354G>C , LRG_219t1:c.3354G>C (MSH6)	NP_000170.1:p.Glu1118Asp
NM_001281492.1:c.2964G>C (MSH6)	NP_001268421.1:p.Glu988Asp
NM_001281493.1:c.2448G>C (MSH6)	NP_001268422.1:p.Glu816Asp
NM_001281494.1:c.2448G>C (MSH6)	NP_001268423.1:p.Glu816Asp
XM_005264271.1:c.3057G>C (MSH6)	XP_005264328.1:p.Glu1019Asp
XM_011532798.1:c.3171G>C (MSH6)	XP_011531100.1:p.Glu1057Asp
XM_011532799.1:c.3057G>C (MSH6)	XP_011531101.1:p.Glu1019Asp
XM_011532800.1:c.3057G>C (MSH6)	XP_011531102.1:p.Glu1019Asp
XM_024452819.1:c.3354G>C (MSH6)	XP_024308587.1:p.Glu1118Asp
XM_024452820.1:c.3171G>C (MSH6)	XP_024308588.1:p.Glu1057Asp
XM_024452821.1:c.3057G>C (MSH6)	XP_024308589.1:p.Glu1019Asp
XM_024452822.1:c.2448G>C (MSH6)	XP_024308590.1:p.Glu816Asp
NM_000179.3:c.3354G>C (MSH6) MANE Select	NP_000170.1:p.Glu1118Asp
NM_001281492.2:c.2964G>C (MSH6)	NP_001268421.1:p.Glu988Asp
NM_001281493.2:c.2448G>C (MSH6)	NP_001268422.1:p.Glu816Asp
NM_001281494.2:c.2448G>C (MSH6)	NP_001268423.1:p.Glu816Asp