Canonical Allele Identifier: CA346760513

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1732906
• ClinVar RCV Id: RCV002460281
• MyVariant Identifiers: chr2:g.48032781T>A (hg19) ; chr2:g.47805642T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805642T>A , CM000664.2:g.47805642T>A	GRCh38
NC_000002.11:g.48032781T>A , CM000664.1:g.48032781T>A	GRCh37
NC_000002.10:g.47886285T>A	NCBI36
NG_007111.1:g.27496T>A , LRG_219:g.27496T>A
NG_008397.1:g.105034A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3284T>A (MSH6)	ENSP00000406248.2:p.Leu1095Ter
ENST00000420813.6:c.3284T>A (MSH6)	ENSP00000390382.2:p.Leu1095Ter
ENST00000455383.6:c.3284T>A (MSH6)	ENSP00000397484.2:p.Leu1095Ter
ENST00000700004.2:c.3197T>A (MSH6)	ENSP00000514752.2:p.Leu1066Ter
ENST00000699999.1:n.4255T>A (MSH6)
ENST00000700000.1:c.2015T>A (MSH6)	ENSP00000514749.1:p.Leu672Ter
ENST00000700002.1:c.3587T>A (MSH6)	ENSP00000514750.1:p.Leu1196Ter
ENST00000700003.1:c.1036T>A (MSH6)	ENSP00000514751.1:n.1036T>A
ENST00000700004.1:c.2354T>A (MSH6)	ENSP00000514752.1:p.Leu785Ter
ENST00000700005.1:n.2432T>A (MSH6)
ENST00000700006.1:n.4243T>A (MSH6)
ENST00000700007.1:n.2176T>A (MSH6)
ENST00000700008.1:n.1750T>A (MSH6)
ENST00000700009.1:n.1749T>A (MSH6)
ENST00000700010.1:n.990T>A (MSH6)
ENST00000700011.1:n.2875T>A (MSH6)
ENST00000234420.11:c.3581T>A (MSH6) MANE Select	ENSP00000234420.5:p.Leu1194Ter
ENST00000540021.6:c.3191T>A (MSH6)	ENSP00000446475.1:p.Leu1064Ter
ENST00000652107.1:c.3284T>A (MSH6)	ENSP00000498629.1:p.Leu1095Ter
ENST00000673637.1:c.3284T>A (MSH6)	ENSP00000501310.1:p.Leu1095Ter
ENST00000234420.9:c.3581T>A (MSH6)	ENSP00000234420.4:p.Leu1194Ter
ENST00000405808.5:c.169+2553A>T (FBXO11)	ENSP00000385127.1:n.169+2553A>T
ENST00000434234.5:c.*124+2352A>T (FBXO11)	ENSP00000402692.1:n.*124+2352A>T
ENST00000445503.5:c.*2928T>A (MSH6)	ENSP00000405294.1:n.*2928T>A
ENST00000538136.1:c.2675T>A (MSH6)	ENSP00000438580.1:p.Leu892Ter
ENST00000540021.5:c.3191T>A (MSH6)	ENSP00000446475.1:p.Leu1064Ter
ENST00000614496.4:c.2675T>A (MSH6)	ENSP00000477844.1:p.Leu892Ter
ENST00000622629.4:c.485T>A (MSH6)	ENSP00000482078.1:p.Leu162Ter
NM_000179.2:c.3581T>A , LRG_219t1:c.3581T>A (MSH6)	NP_000170.1:p.Leu1194Ter
NM_001281492.1:c.3191T>A (MSH6)	NP_001268421.1:p.Leu1064Ter
NM_001281493.1:c.2675T>A (MSH6)	NP_001268422.1:p.Leu892Ter
NM_001281494.1:c.2675T>A (MSH6)	NP_001268423.1:p.Leu892Ter
XM_005264271.1:c.3284T>A (MSH6)	XP_005264328.1:p.Leu1095Ter
XM_011532798.1:c.3398T>A (MSH6)	XP_011531100.1:p.Leu1133Ter
XM_011532799.1:c.3284T>A (MSH6)	XP_011531101.1:p.Leu1095Ter
XM_011532800.1:c.3284T>A (MSH6)	XP_011531102.1:p.Leu1095Ter
XM_024452819.1:c.3581T>A (MSH6)	XP_024308587.1:p.Leu1194Ter
XM_024452820.1:c.3398T>A (MSH6)	XP_024308588.1:p.Leu1133Ter
XM_024452821.1:c.3284T>A (MSH6)	XP_024308589.1:p.Leu1095Ter
XM_024452822.1:c.2675T>A (MSH6)	XP_024308590.1:p.Leu892Ter
NM_000179.3:c.3581T>A (MSH6) MANE Select	NP_000170.1:p.Leu1194Ter
NM_001281492.2:c.3191T>A (MSH6)	NP_001268421.1:p.Leu1064Ter
NM_001281493.2:c.2675T>A (MSH6)	NP_001268422.1:p.Leu892Ter
NM_001281494.2:c.2675T>A (MSH6)	NP_001268423.1:p.Leu892Ter