Canonical Allele Identifier: CA346760191

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1015364
• ClinVar RCV Id: RCV001314214 ; RCV002456411
• dbSNP Id: rs1669874241
• gnomAD v4: 2-47804982-G-C
• MyVariant Identifiers: chr2:g.48032121G>C (hg19) ; chr2:g.47804982G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47804982G>C , CM000664.2:g.47804982G>C	GRCh38
NC_000002.11:g.48032121G>C , CM000664.1:g.48032121G>C	GRCh37
NC_000002.10:g.47885625G>C	NCBI36
NG_007111.1:g.26836G>C , LRG_219:g.26836G>C
NG_008397.1:g.105694C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3214G>C (MSH6)	ENSP00000406248.2:p.Asp1072His
ENST00000420813.6:c.3214G>C (MSH6)	ENSP00000390382.2:p.Asp1072His
ENST00000455383.6:c.3214G>C (MSH6)	ENSP00000397484.2:p.Asp1072His
ENST00000700004.2:c.3173-636G>C (MSH6)	ENSP00000514752.2:n.3173-636G>C
ENST00000699999.1:n.3595G>C (MSH6)
ENST00000700000.1:c.1945G>C (MSH6)	ENSP00000514749.1:p.Asp649His
ENST00000700002.1:c.3517G>C (MSH6)	ENSP00000514750.1:p.Asp1173His
ENST00000700003.1:c.966G>C (MSH6)	ENSP00000514751.1:n.966G>C
ENST00000700004.1:c.2330-636G>C (MSH6)	ENSP00000514752.1:n.2330-636G>C
ENST00000700005.1:n.2362G>C (MSH6)
ENST00000700006.1:n.3583G>C (MSH6)
ENST00000700007.1:n.1516G>C (MSH6)
ENST00000700008.1:n.1090G>C (MSH6)
ENST00000700009.1:n.1089G>C (MSH6)
ENST00000700010.1:n.920G>C (MSH6)
ENST00000700011.1:n.2215G>C (MSH6)
ENST00000234420.11:c.3511G>C (MSH6) MANE Select	ENSP00000234420.5:p.Asp1171His
ENST00000540021.6:c.3121G>C (MSH6)	ENSP00000446475.1:p.Asp1041His
ENST00000652107.1:c.3214G>C (MSH6)	ENSP00000498629.1:p.Asp1072His
ENST00000673637.1:c.3214G>C (MSH6)	ENSP00000501310.1:p.Asp1072His
ENST00000234420.9:c.3511G>C (MSH6)	ENSP00000234420.4:p.Asp1171His
ENST00000405808.5:c.169+3213C>G (FBXO11)	ENSP00000385127.1:n.169+3213C>G
ENST00000434234.5:c.*124+3012C>G (FBXO11)	ENSP00000402692.1:n.*124+3012C>G
ENST00000445503.5:c.*2858G>C (MSH6)	ENSP00000405294.1:n.*2858G>C
ENST00000538136.1:c.2605G>C (MSH6)	ENSP00000438580.1:p.Asp869His
ENST00000540021.5:c.3121G>C (MSH6)	ENSP00000446475.1:p.Asp1041His
ENST00000614496.4:c.2605G>C (MSH6)	ENSP00000477844.1:p.Asp869His
ENST00000622629.4:c.415G>C (MSH6)	ENSP00000482078.1:p.Asp139His
NM_000179.2:c.3511G>C , LRG_219t1:c.3511G>C (MSH6)	NP_000170.1:p.Asp1171His
NM_001281492.1:c.3121G>C (MSH6)	NP_001268421.1:p.Asp1041His
NM_001281493.1:c.2605G>C (MSH6)	NP_001268422.1:p.Asp869His
NM_001281494.1:c.2605G>C (MSH6)	NP_001268423.1:p.Asp869His
XM_005264271.1:c.3214G>C (MSH6)	XP_005264328.1:p.Asp1072His
XM_011532798.1:c.3328G>C (MSH6)	XP_011531100.1:p.Asp1110His
XM_011532799.1:c.3214G>C (MSH6)	XP_011531101.1:p.Asp1072His
XM_011532800.1:c.3214G>C (MSH6)	XP_011531102.1:p.Asp1072His
XM_024452819.1:c.3511G>C (MSH6)	XP_024308587.1:p.Asp1171His
XM_024452820.1:c.3328G>C (MSH6)	XP_024308588.1:p.Asp1110His
XM_024452821.1:c.3214G>C (MSH6)	XP_024308589.1:p.Asp1072His
XM_024452822.1:c.2605G>C (MSH6)	XP_024308590.1:p.Asp869His
NM_000179.3:c.3511G>C (MSH6) MANE Select	NP_000170.1:p.Asp1171His
NM_001281492.2:c.3121G>C (MSH6)	NP_001268421.1:p.Asp1041His
NM_001281493.2:c.2605G>C (MSH6)	NP_001268422.1:p.Asp869His
NM_001281494.2:c.2605G>C (MSH6)	NP_001268423.1:p.Asp869His