Canonical Allele Identifier: CA346761639

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2747524
• ClinVar RCV Id: RCV003593638
• dbSNP Id: rs139825189
• MyVariant Identifiers: chr2:g.48033927C>G (hg19) ; chr2:g.47806788C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806788C>G , CM000664.2:g.47806788C>G	GRCh38
NC_000002.11:g.48033927C>G , CM000664.1:g.48033927C>G	GRCh37
NC_000002.10:g.47887431C>G	NCBI36
NG_007111.1:g.28642C>G , LRG_219:g.28642C>G
NG_008397.1:g.103888G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3714C>G (MSH6)	ENSP00000406248.2:p.Cys1238Trp
ENST00000420813.6:c.3714C>G (MSH6)	ENSP00000390382.2:p.Cys1238Trp
ENST00000455383.6:c.3714C>G (MSH6)	ENSP00000397484.2:p.Cys1238Trp
ENST00000700004.2:c.3627C>G (MSH6)	ENSP00000514752.2:p.Cys1209Trp
ENST00000699999.1:n.4685C>G (MSH6)
ENST00000700000.1:c.2445C>G (MSH6)	ENSP00000514749.1:p.Cys815Trp
ENST00000700002.1:c.4017C>G (MSH6)	ENSP00000514750.1:p.Cys1339Trp
ENST00000700003.1:c.1466C>G (MSH6)	ENSP00000514751.1:n.1466C>G
ENST00000700004.1:c.2784C>G (MSH6)	ENSP00000514752.1:p.Cys928Trp
ENST00000700005.1:n.2989C>G (MSH6)
ENST00000700007.1:n.2606C>G (MSH6)
ENST00000700008.1:n.2273C>G (MSH6)
ENST00000700009.1:n.2675C>G (MSH6)
ENST00000700010.1:n.1420C>G (MSH6)
ENST00000700011.1:n.3305C>G (MSH6)
ENST00000682451.1:n.3960G>C (FBXO11)
ENST00000684712.1:n.4222G>C (FBXO11)
ENST00000234420.11:c.4011C>G (MSH6) MANE Select	ENSP00000234420.5:p.Cys1337Trp
ENST00000540021.6:c.3621C>G (MSH6)	ENSP00000446475.1:p.Cys1207Trp
ENST00000652107.1:c.3714C>G (MSH6)	ENSP00000498629.1:p.Cys1238Trp
ENST00000673637.1:c.3714C>G (MSH6)	ENSP00000501310.1:p.Cys1238Trp
ENST00000234420.9:c.4011C>G (MSH6)	ENSP00000234420.4:p.Cys1337Trp
ENST00000405808.5:c.169+1407G>C (FBXO11)	ENSP00000385127.1:n.169+1407G>C
ENST00000434234.5:c.*124+1206G>C (FBXO11)	ENSP00000402692.1:n.*124+1206G>C
ENST00000445503.5:c.*3358C>G (MSH6)	ENSP00000405294.1:n.*3358C>G
ENST00000465204.5:n.3122G>C (FBXO11)
ENST00000538136.1:c.3105C>G (MSH6)	ENSP00000438580.1:p.Cys1035Trp
ENST00000540021.5:c.3621C>G (MSH6)	ENSP00000446475.1:p.Cys1207Trp
ENST00000614496.4:c.3105C>G (MSH6)	ENSP00000477844.1:p.Cys1035Trp
ENST00000622629.4:c.912C>G (MSH6)	ENSP00000482078.1:p.Cys304Trp
NM_000179.2:c.4011C>G , LRG_219t1:c.4011C>G (MSH6)	NP_000170.1:p.Cys1337Trp
NM_001281492.1:c.3621C>G (MSH6)	NP_001268421.1:p.Cys1207Trp
NM_001281493.1:c.3105C>G (MSH6)	NP_001268422.1:p.Cys1035Trp
NM_001281494.1:c.3105C>G (MSH6)	NP_001268423.1:p.Cys1035Trp
XM_005264271.1:c.3714C>G (MSH6)	XP_005264328.1:p.Cys1238Trp
XM_011532798.1:c.3828C>G (MSH6)	XP_011531100.1:p.Cys1276Trp
XM_011532799.1:c.3714C>G (MSH6)	XP_011531101.1:p.Cys1238Trp
XM_011532800.1:c.3714C>G (MSH6)	XP_011531102.1:p.Cys1238Trp
XM_024452819.1:c.4104C>G (MSH6)	XP_024308587.1:p.Cys1368Trp
XM_024452820.1:c.3921C>G (MSH6)	XP_024308588.1:p.Cys1307Trp
XM_024452821.1:c.3807C>G (MSH6)	XP_024308589.1:p.Cys1269Trp
XM_024452822.1:c.3198C>G (MSH6)	XP_024308590.1:p.Cys1066Trp
NM_000179.3:c.4011C>G (MSH6) MANE Select	NP_000170.1:p.Cys1337Trp
NM_001281492.2:c.3621C>G (MSH6)	NP_001268421.1:p.Cys1207Trp
NM_001281493.2:c.3105C>G (MSH6)	NP_001268422.1:p.Cys1035Trp
NM_001281494.2:c.3105C>G (MSH6)	NP_001268423.1:p.Cys1035Trp