Canonical Allele Identifier: CA346760606

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1470503
• ClinVar RCV Id: RCV001995237
• dbSNP Id: rs2104525825
• MyVariant Identifiers: chr2:g.48032831C>T (hg19) ; chr2:g.47805692C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805692C>T , CM000664.2:g.47805692C>T	GRCh38
NC_000002.11:g.48032831C>T , CM000664.1:g.48032831C>T	GRCh37
NC_000002.10:g.47886335C>T	NCBI36
NG_007111.1:g.27546C>T , LRG_219:g.27546C>T
NG_008397.1:g.104984G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3334C>T (MSH6)	ENSP00000406248.2:p.Leu1112Phe
ENST00000420813.6:c.3334C>T (MSH6)	ENSP00000390382.2:p.Leu1112Phe
ENST00000455383.6:c.3334C>T (MSH6)	ENSP00000397484.2:p.Leu1112Phe
ENST00000700004.2:c.3247C>T (MSH6)	ENSP00000514752.2:p.Leu1083Phe
ENST00000699999.1:n.4305C>T (MSH6)
ENST00000700000.1:c.2065C>T (MSH6)	ENSP00000514749.1:p.Leu689Phe
ENST00000700002.1:c.3637C>T (MSH6)	ENSP00000514750.1:p.Leu1213Phe
ENST00000700003.1:c.1086C>T (MSH6)	ENSP00000514751.1:n.1086C>T
ENST00000700004.1:c.2404C>T (MSH6)	ENSP00000514752.1:p.Leu802Phe
ENST00000700005.1:n.2482C>T (MSH6)
ENST00000700006.1:n.4293C>T (MSH6)
ENST00000700007.1:n.2226C>T (MSH6)
ENST00000700008.1:n.1800C>T (MSH6)
ENST00000700009.1:n.1799C>T (MSH6)
ENST00000700010.1:n.1040C>T (MSH6)
ENST00000700011.1:n.2925C>T (MSH6)
ENST00000234420.11:c.3631C>T (MSH6) MANE Select	ENSP00000234420.5:p.Leu1211Phe
ENST00000540021.6:c.3241C>T (MSH6)	ENSP00000446475.1:p.Leu1081Phe
ENST00000652107.1:c.3334C>T (MSH6)	ENSP00000498629.1:p.Leu1112Phe
ENST00000673637.1:c.3334C>T (MSH6)	ENSP00000501310.1:p.Leu1112Phe
ENST00000234420.9:c.3631C>T (MSH6)	ENSP00000234420.4:p.Leu1211Phe
ENST00000405808.5:c.169+2503G>A (FBXO11)	ENSP00000385127.1:n.169+2503G>A
ENST00000434234.5:c.*124+2302G>A (FBXO11)	ENSP00000402692.1:n.*124+2302G>A
ENST00000445503.5:c.*2978C>T (MSH6)	ENSP00000405294.1:n.*2978C>T
ENST00000538136.1:c.2725C>T (MSH6)	ENSP00000438580.1:p.Leu909Phe
ENST00000540021.5:c.3241C>T (MSH6)	ENSP00000446475.1:p.Leu1081Phe
ENST00000614496.4:c.2725C>T (MSH6)	ENSP00000477844.1:p.Leu909Phe
ENST00000622629.4:c.535C>T (MSH6)	ENSP00000482078.1:p.Leu179Phe
NM_000179.2:c.3631C>T , LRG_219t1:c.3631C>T (MSH6)	NP_000170.1:p.Leu1211Phe
NM_001281492.1:c.3241C>T (MSH6)	NP_001268421.1:p.Leu1081Phe
NM_001281493.1:c.2725C>T (MSH6)	NP_001268422.1:p.Leu909Phe
NM_001281494.1:c.2725C>T (MSH6)	NP_001268423.1:p.Leu909Phe
XM_005264271.1:c.3334C>T (MSH6)	XP_005264328.1:p.Leu1112Phe
XM_011532798.1:c.3448C>T (MSH6)	XP_011531100.1:p.Leu1150Phe
XM_011532799.1:c.3334C>T (MSH6)	XP_011531101.1:p.Leu1112Phe
XM_011532800.1:c.3334C>T (MSH6)	XP_011531102.1:p.Leu1112Phe
XM_024452819.1:c.3631C>T (MSH6)	XP_024308587.1:p.Leu1211Phe
XM_024452820.1:c.3448C>T (MSH6)	XP_024308588.1:p.Leu1150Phe
XM_024452821.1:c.3334C>T (MSH6)	XP_024308589.1:p.Leu1112Phe
XM_024452822.1:c.2725C>T (MSH6)	XP_024308590.1:p.Leu909Phe
NM_000179.3:c.3631C>T (MSH6) MANE Select	NP_000170.1:p.Leu1211Phe
NM_001281492.2:c.3241C>T (MSH6)	NP_001268421.1:p.Leu1081Phe
NM_001281493.2:c.2725C>T (MSH6)	NP_001268422.1:p.Leu909Phe
NM_001281494.2:c.2725C>T (MSH6)	NP_001268423.1:p.Leu909Phe