Canonical Allele Identifier: CA346756372

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2453169
• ClinVar RCV Id: RCV003182624
• MyVariant Identifiers: chr2:g.48028109T>C (hg19) ; chr2:g.47800970T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800970T>C , CM000664.2:g.47800970T>C	GRCh38
NC_000002.11:g.48028109T>C , CM000664.1:g.48028109T>C	GRCh37
NC_000002.10:g.47881613T>C	NCBI36
NG_007111.1:g.22824T>C , LRG_219:g.22824T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2690T>C (MSH6)	ENSP00000406248.2:p.Leu897Ser
ENST00000420813.6:c.2690T>C (MSH6)	ENSP00000390382.2:p.Leu897Ser
ENST00000455383.6:c.2690T>C (MSH6)	ENSP00000397484.2:p.Leu897Ser
ENST00000700004.2:c.2987T>C (MSH6)	ENSP00000514752.2:p.Leu996Ser
ENST00000699999.1:n.3071T>C (MSH6)
ENST00000700000.1:c.1606+1381T>C (MSH6)	ENSP00000514749.1:n.1606+1381T>C
ENST00000700002.1:c.2993T>C (MSH6)	ENSP00000514750.1:p.Leu998Ser
ENST00000700003.1:c.628-2450T>C (MSH6)	ENSP00000514751.1:n.628-2450T>C
ENST00000700004.1:c.2144T>C (MSH6)	ENSP00000514752.1:p.Leu715Ser
ENST00000234420.11:c.2987T>C (MSH6) MANE Select	ENSP00000234420.5:p.Leu996Ser
ENST00000540021.6:c.2597T>C (MSH6)	ENSP00000446475.1:p.Leu866Ser
ENST00000652107.1:c.2690T>C (MSH6)	ENSP00000498629.1:p.Leu897Ser
ENST00000673637.1:c.2690T>C (MSH6)	ENSP00000501310.1:p.Leu897Ser
ENST00000234420.9:c.2987T>C (MSH6)	ENSP00000234420.4:p.Leu996Ser
ENST00000405808.5:c.169+7225A>G (FBXO11)	ENSP00000385127.1:n.169+7225A>G
ENST00000434234.5:c.*124+7024A>G (FBXO11)	ENSP00000402692.1:n.*124+7024A>G
ENST00000445503.5:c.*2334T>C (MSH6)	ENSP00000405294.1:n.*2334T>C
ENST00000538136.1:c.2081T>C (MSH6)	ENSP00000438580.1:p.Leu694Ser
ENST00000540021.5:c.2597T>C (MSH6)	ENSP00000446475.1:p.Leu866Ser
ENST00000614496.4:c.2081T>C (MSH6)	ENSP00000477844.1:p.Leu694Ser
ENST00000616033.4:c.2984T>C (MSH6)	ENSP00000480261.1:p.Leu995Ser
ENST00000622629.4:c.-110T>C (MSH6)	ENSP00000482078.1:n.-110T>C
NM_000179.2:c.2987T>C , LRG_219t1:c.2987T>C (MSH6)	NP_000170.1:p.Leu996Ser
NM_001281492.1:c.2597T>C (MSH6)	NP_001268421.1:p.Leu866Ser
NM_001281493.1:c.2081T>C (MSH6)	NP_001268422.1:p.Leu694Ser
NM_001281494.1:c.2081T>C (MSH6)	NP_001268423.1:p.Leu694Ser
XM_005264271.1:c.2690T>C (MSH6)	XP_005264328.1:p.Leu897Ser
XM_011532798.1:c.2804T>C (MSH6)	XP_011531100.1:p.Leu935Ser
XM_011532799.1:c.2690T>C (MSH6)	XP_011531101.1:p.Leu897Ser
XM_011532800.1:c.2690T>C (MSH6)	XP_011531102.1:p.Leu897Ser
XM_024452819.1:c.2987T>C (MSH6)	XP_024308587.1:p.Leu996Ser
XM_024452820.1:c.2804T>C (MSH6)	XP_024308588.1:p.Leu935Ser
XM_024452821.1:c.2690T>C (MSH6)	XP_024308589.1:p.Leu897Ser
XM_024452822.1:c.2081T>C (MSH6)	XP_024308590.1:p.Leu694Ser
NM_000179.3:c.2987T>C (MSH6) MANE Select	NP_000170.1:p.Leu996Ser
NM_001281492.2:c.2597T>C (MSH6)	NP_001268421.1:p.Leu866Ser
NM_001281493.2:c.2081T>C (MSH6)	NP_001268422.1:p.Leu694Ser
NM_001281494.2:c.2081T>C (MSH6)	NP_001268423.1:p.Leu694Ser