Canonical Allele Identifier: CA346761455

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1722334
• ClinVar RCV Id: RCV002302448
• dbSNP Id: rs2104560696
• MyVariant Identifiers: chr2:g.48033706C>T (hg19) ; chr2:g.47806567C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806567C>T , CM000664.2:g.47806567C>T	GRCh38
NC_000002.11:g.48033706C>T , CM000664.1:g.48033706C>T	GRCh37
NC_000002.10:g.47887210C>T	NCBI36
NG_007111.1:g.28421C>T , LRG_219:g.28421C>T
NG_008397.1:g.104109G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3620C>T (MSH6)	ENSP00000406248.2:p.Ala1207Val
ENST00000420813.6:c.3620C>T (MSH6)	ENSP00000390382.2:p.Ala1207Val
ENST00000455383.6:c.3620C>T (MSH6)	ENSP00000397484.2:p.Ala1207Val
ENST00000700004.2:c.3533C>T (MSH6)	ENSP00000514752.2:p.Ala1178Val
ENST00000699999.1:n.4591C>T (MSH6)
ENST00000700000.1:c.2351C>T (MSH6)	ENSP00000514749.1:p.Ala784Val
ENST00000700002.1:c.3923C>T (MSH6)	ENSP00000514750.1:p.Ala1308Val
ENST00000700003.1:c.1372C>T (MSH6)	ENSP00000514751.1:n.1372C>T
ENST00000700004.1:c.2690C>T (MSH6)	ENSP00000514752.1:p.Ala897Val
ENST00000700005.1:n.2768C>T (MSH6)
ENST00000700006.1:n.5075C>T (MSH6)
ENST00000700007.1:n.2512C>T (MSH6)
ENST00000700008.1:n.2179C>T (MSH6)
ENST00000700009.1:n.2581C>T (MSH6)
ENST00000700010.1:n.1326C>T (MSH6)
ENST00000700011.1:n.3211C>T (MSH6)
ENST00000682451.1:n.4181G>A (FBXO11)
ENST00000684712.1:n.4443G>A (FBXO11)
ENST00000234420.11:c.3917C>T (MSH6) MANE Select	ENSP00000234420.5:p.Ala1306Val
ENST00000540021.6:c.3527C>T (MSH6)	ENSP00000446475.1:p.Ala1176Val
ENST00000652107.1:c.3620C>T (MSH6)	ENSP00000498629.1:p.Ala1207Val
ENST00000673637.1:c.3620C>T (MSH6)	ENSP00000501310.1:p.Ala1207Val
ENST00000234420.9:c.3917C>T (MSH6)	ENSP00000234420.4:p.Ala1306Val
ENST00000405808.5:c.169+1628G>A (FBXO11)	ENSP00000385127.1:n.169+1628G>A
ENST00000434234.5:c.*124+1427G>A (FBXO11)	ENSP00000402692.1:n.*124+1427G>A
ENST00000445503.5:c.*3264C>T (MSH6)	ENSP00000405294.1:n.*3264C>T
ENST00000538136.1:c.3011C>T (MSH6)	ENSP00000438580.1:p.Ala1004Val
ENST00000540021.5:c.3527C>T (MSH6)	ENSP00000446475.1:p.Ala1176Val
ENST00000614496.4:c.3011C>T (MSH6)	ENSP00000477844.1:p.Ala1004Val
ENST00000622629.4:c.818C>T (MSH6)	ENSP00000482078.1:p.Ala273Val
NM_000179.2:c.3917C>T , LRG_219t1:c.3917C>T (MSH6)	NP_000170.1:p.Ala1306Val
NM_001281492.1:c.3527C>T (MSH6)	NP_001268421.1:p.Ala1176Val
NM_001281493.1:c.3011C>T (MSH6)	NP_001268422.1:p.Ala1004Val
NM_001281494.1:c.3011C>T (MSH6)	NP_001268423.1:p.Ala1004Val
XM_005264271.1:c.3620C>T (MSH6)	XP_005264328.1:p.Ala1207Val
XM_011532798.1:c.3734C>T (MSH6)	XP_011531100.1:p.Ala1245Val
XM_011532799.1:c.3620C>T (MSH6)	XP_011531101.1:p.Ala1207Val
XM_011532800.1:c.3620C>T (MSH6)	XP_011531102.1:p.Ala1207Val
XM_024452819.1:c.4010C>T (MSH6)	XP_024308587.1:p.Ala1337Val
XM_024452820.1:c.3827C>T (MSH6)	XP_024308588.1:p.Ala1276Val
XM_024452821.1:c.3713C>T (MSH6)	XP_024308589.1:p.Ala1238Val
XM_024452822.1:c.3104C>T (MSH6)	XP_024308590.1:p.Ala1035Val
NM_000179.3:c.3917C>T (MSH6) MANE Select	NP_000170.1:p.Ala1306Val
NM_001281492.2:c.3527C>T (MSH6)	NP_001268421.1:p.Ala1176Val
NM_001281493.2:c.3011C>T (MSH6)	NP_001268422.1:p.Ala1004Val
NM_001281494.2:c.3011C>T (MSH6)	NP_001268423.1:p.Ala1004Val