Canonical Allele Identifier: CA346761678

Gene: MSH6 FBXO11

Linked Data

• dbSNP Id: rs1572750070
• MyVariant Identifiers: chr2:g.48033947C>G (hg19) ; chr2:g.47806808C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806808C>G , CM000664.2:g.47806808C>G	GRCh38
NC_000002.11:g.48033947C>G , CM000664.1:g.48033947C>G	GRCh37
NC_000002.10:g.47887451C>G	NCBI36
NG_007111.1:g.28662C>G , LRG_219:g.28662C>G
NG_008397.1:g.103868G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.3734C>G (MSH6)	ENSP00000406248.2:p.Thr1245Ser
ENST00000420813.6:c.3734C>G (MSH6)	ENSP00000390382.2:p.Thr1245Ser
ENST00000455383.6:c.3734C>G (MSH6)	ENSP00000397484.2:p.Thr1245Ser
ENST00000700004.2:c.3647C>G (MSH6)	ENSP00000514752.2:p.Thr1216Ser
ENST00000699999.1:n.4705C>G (MSH6)
ENST00000700000.1:c.2465C>G (MSH6)	ENSP00000514749.1:p.Thr822Ser
ENST00000700002.1:c.4037C>G (MSH6)	ENSP00000514750.1:p.Thr1346Ser
ENST00000700003.1:c.1486C>G (MSH6)	ENSP00000514751.1:n.1486C>G
ENST00000700004.1:c.2804C>G (MSH6)	ENSP00000514752.1:p.Thr935Ser
ENST00000700005.1:n.3009C>G (MSH6)
ENST00000700007.1:n.2626C>G (MSH6)
ENST00000700008.1:n.2293C>G (MSH6)
ENST00000700009.1:n.2695C>G (MSH6)
ENST00000700010.1:n.1440C>G (MSH6)
ENST00000700011.1:n.3325C>G (MSH6)
ENST00000682451.1:n.3940G>C (FBXO11)
ENST00000684712.1:n.4202G>C (FBXO11)
ENST00000234420.11:c.4031C>G (MSH6) MANE Select	ENSP00000234420.5:p.Thr1344Ser
ENST00000540021.6:c.3641C>G (MSH6)	ENSP00000446475.1:p.Thr1214Ser
ENST00000652107.1:c.3734C>G (MSH6)	ENSP00000498629.1:p.Thr1245Ser
ENST00000673637.1:c.3734C>G (MSH6)	ENSP00000501310.1:p.Thr1245Ser
ENST00000234420.9:c.4031C>G (MSH6)	ENSP00000234420.4:p.Thr1344Ser
ENST00000405808.5:c.169+1387G>C (FBXO11)	ENSP00000385127.1:n.169+1387G>C
ENST00000434234.5:c.*124+1186G>C (FBXO11)	ENSP00000402692.1:n.*124+1186G>C
ENST00000445503.5:c.*3378C>G (MSH6)	ENSP00000405294.1:n.*3378C>G
ENST00000465204.5:n.3102G>C (FBXO11)
ENST00000538136.1:c.3125C>G (MSH6)	ENSP00000438580.1:p.Thr1042Ser
ENST00000540021.5:c.3641C>G (MSH6)	ENSP00000446475.1:p.Thr1214Ser
ENST00000614496.4:c.3125C>G (MSH6)	ENSP00000477844.1:p.Thr1042Ser
ENST00000622629.4:c.932C>G (MSH6)	ENSP00000482078.1:p.Thr311Ser
NM_000179.2:c.4031C>G , LRG_219t1:c.4031C>G (MSH6)	NP_000170.1:p.Thr1344Ser
NM_001281492.1:c.3641C>G (MSH6)	NP_001268421.1:p.Thr1214Ser
NM_001281493.1:c.3125C>G (MSH6)	NP_001268422.1:p.Thr1042Ser
NM_001281494.1:c.3125C>G (MSH6)	NP_001268423.1:p.Thr1042Ser
XM_005264271.1:c.3734C>G (MSH6)	XP_005264328.1:p.Thr1245Ser
XM_011532798.1:c.3848C>G (MSH6)	XP_011531100.1:p.Thr1283Ser
XM_011532799.1:c.3734C>G (MSH6)	XP_011531101.1:p.Thr1245Ser
XM_011532800.1:c.3734C>G (MSH6)	XP_011531102.1:p.Thr1245Ser
XM_024452819.1:c.4124C>G (MSH6)	XP_024308587.1:p.Thr1375Ser
XM_024452820.1:c.3941C>G (MSH6)	XP_024308588.1:p.Thr1314Ser
XM_024452821.1:c.3827C>G (MSH6)	XP_024308589.1:p.Thr1276Ser
XM_024452822.1:c.3218C>G (MSH6)	XP_024308590.1:p.Thr1073Ser
NM_000179.3:c.4031C>G (MSH6) MANE Select	NP_000170.1:p.Thr1344Ser
NM_001281492.2:c.3641C>G (MSH6)	NP_001268421.1:p.Thr1214Ser
NM_001281493.2:c.3125C>G (MSH6)	NP_001268422.1:p.Thr1042Ser
NM_001281494.2:c.3125C>G (MSH6)	NP_001268423.1:p.Thr1042Ser