Canonical Allele Identifier: CA346760009

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs1572738396
• gnomAD v4: 2-47804925-G-C
• MyVariant Identifiers: chr2:g.48032064G>C (hg19) ; chr2:g.47804925G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47804925G>C , CM000664.2:g.47804925G>C	GRCh38
NC_000002.11:g.48032064G>C , CM000664.1:g.48032064G>C	GRCh37
NC_000002.10:g.47885568G>C	NCBI36
NG_007111.1:g.26779G>C , LRG_219:g.26779G>C
NG_008397.1:g.105751C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3157G>C (MSH6)	ENSP00000406248.2:p.Val1053Leu
ENST00000420813.6:c.3157G>C (MSH6)	ENSP00000390382.2:p.Val1053Leu
ENST00000455383.6:c.3157G>C (MSH6)	ENSP00000397484.2:p.Val1053Leu
ENST00000700004.2:c.3173-693G>C (MSH6)	ENSP00000514752.2:n.3173-693G>C
ENST00000699999.1:n.3538G>C (MSH6)
ENST00000700000.1:c.1888G>C (MSH6)	ENSP00000514749.1:p.Val630Leu
ENST00000700002.1:c.3460G>C (MSH6)	ENSP00000514750.1:p.Val1154Leu
ENST00000700003.1:c.909G>C (MSH6)	ENSP00000514751.1:n.909G>C
ENST00000700004.1:c.2330-693G>C (MSH6)	ENSP00000514752.1:n.2330-693G>C
ENST00000700005.1:n.2305G>C (MSH6)
ENST00000700006.1:n.3526G>C (MSH6)
ENST00000700007.1:n.1459G>C (MSH6)
ENST00000700008.1:n.1033G>C (MSH6)
ENST00000700009.1:n.1032G>C (MSH6)
ENST00000700010.1:n.863G>C (MSH6)
ENST00000700011.1:n.2158G>C (MSH6)
ENST00000234420.11:c.3454G>C (MSH6) MANE Select	ENSP00000234420.5:p.Val1152Leu
ENST00000540021.6:c.3064G>C (MSH6)	ENSP00000446475.1:p.Val1022Leu
ENST00000652107.1:c.3157G>C (MSH6)	ENSP00000498629.1:p.Val1053Leu
ENST00000673637.1:c.3157G>C (MSH6)	ENSP00000501310.1:p.Val1053Leu
ENST00000234420.9:c.3454G>C (MSH6)	ENSP00000234420.4:p.Val1152Leu
ENST00000405808.5:c.169+3270C>G (FBXO11)	ENSP00000385127.1:n.169+3270C>G
ENST00000434234.5:c.*124+3069C>G (FBXO11)	ENSP00000402692.1:n.*124+3069C>G
ENST00000445503.5:c.*2801G>C (MSH6)	ENSP00000405294.1:n.*2801G>C
ENST00000538136.1:c.2548G>C (MSH6)	ENSP00000438580.1:p.Val850Leu
ENST00000540021.5:c.3064G>C (MSH6)	ENSP00000446475.1:p.Val1022Leu
ENST00000614496.4:c.2548G>C (MSH6)	ENSP00000477844.1:p.Val850Leu
ENST00000622629.4:c.358G>C (MSH6)	ENSP00000482078.1:p.Val120Leu
NM_000179.2:c.3454G>C , LRG_219t1:c.3454G>C (MSH6)	NP_000170.1:p.Val1152Leu
NM_001281492.1:c.3064G>C (MSH6)	NP_001268421.1:p.Val1022Leu
NM_001281493.1:c.2548G>C (MSH6)	NP_001268422.1:p.Val850Leu
NM_001281494.1:c.2548G>C (MSH6)	NP_001268423.1:p.Val850Leu
XM_005264271.1:c.3157G>C (MSH6)	XP_005264328.1:p.Val1053Leu
XM_011532798.1:c.3271G>C (MSH6)	XP_011531100.1:p.Val1091Leu
XM_011532799.1:c.3157G>C (MSH6)	XP_011531101.1:p.Val1053Leu
XM_011532800.1:c.3157G>C (MSH6)	XP_011531102.1:p.Val1053Leu
XM_024452819.1:c.3454G>C (MSH6)	XP_024308587.1:p.Val1152Leu
XM_024452820.1:c.3271G>C (MSH6)	XP_024308588.1:p.Val1091Leu
XM_024452821.1:c.3157G>C (MSH6)	XP_024308589.1:p.Val1053Leu
XM_024452822.1:c.2548G>C (MSH6)	XP_024308590.1:p.Val850Leu
NM_000179.3:c.3454G>C (MSH6) MANE Select	NP_000170.1:p.Val1152Leu
NM_001281492.2:c.3064G>C (MSH6)	NP_001268421.1:p.Val1022Leu
NM_001281493.2:c.2548G>C (MSH6)	NP_001268422.1:p.Val850Leu
NM_001281494.2:c.2548G>C (MSH6)	NP_001268423.1:p.Val850Leu