Canonical Allele Identifier: CA425997671

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1332125
• ClinVar RCV Id: RCV001804641 ; RCV002074191
• dbSNP Id: rs2104536952
• MyVariant Identifiers: chr2:g.48033350T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806211T>C , CM000664.2:g.47806211T>C	GRCh38
NC_000002.11:g.48033350T>C , CM000664.1:g.48033350T>C	GRCh37
NC_000002.10:g.47886854T>C	NCBI36
NG_007111.1:g.28065T>C , LRG_219:g.28065T>C
NG_008397.1:g.104465A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3357T>C (MSH6)	ENSP00000406248.2:p.Gly1119=
ENST00000420813.6:c.3357T>C (MSH6)	ENSP00000390382.2:p.Gly1119=
ENST00000455383.6:c.3357T>C (MSH6)	ENSP00000397484.2:p.Gly1119=
ENST00000700004.2:c.3270T>C (MSH6)	ENSP00000514752.2:p.Gly1090=
ENST00000699999.1:n.4328T>C (MSH6)
ENST00000700000.1:c.2088T>C (MSH6)	ENSP00000514749.1:p.Gly696=
ENST00000700002.1:c.3660T>C (MSH6)	ENSP00000514750.1:p.Gly1220=
ENST00000700003.1:c.1109T>C (MSH6)	ENSP00000514751.1:n.1109T>C
ENST00000700004.1:c.2427T>C (MSH6)	ENSP00000514752.1:p.Gly809=
ENST00000700005.1:n.2505T>C (MSH6)
ENST00000700006.1:n.4812T>C (MSH6)
ENST00000700007.1:n.2249T>C (MSH6)
ENST00000700008.1:n.1823T>C (MSH6)
ENST00000700009.1:n.2318T>C (MSH6)
ENST00000700010.1:n.1063T>C (MSH6)
ENST00000700011.1:n.2948T>C (MSH6)
ENST00000682451.1:n.4537A>G (FBXO11)
ENST00000684712.1:n.4799A>G (FBXO11)
ENST00000234420.11:c.3654T>C (MSH6) MANE Select	ENSP00000234420.5:p.Gly1218=
ENST00000540021.6:c.3264T>C (MSH6)	ENSP00000446475.1:p.Gly1088=
ENST00000652107.1:c.3357T>C (MSH6)	ENSP00000498629.1:p.Gly1119=
ENST00000673637.1:c.3357T>C (MSH6)	ENSP00000501310.1:p.Gly1119=
ENST00000234420.9:c.3654T>C (MSH6)	ENSP00000234420.4:p.Gly1218=
ENST00000405808.5:c.169+1984A>G (FBXO11)	ENSP00000385127.1:n.169+1984A>G
ENST00000434234.5:c.*124+1783A>G (FBXO11)	ENSP00000402692.1:n.*124+1783A>G
ENST00000445503.5:c.*3001T>C (MSH6)	ENSP00000405294.1:n.*3001T>C
ENST00000538136.1:c.2748T>C (MSH6)	ENSP00000438580.1:p.Gly916=
ENST00000540021.5:c.3264T>C (MSH6)	ENSP00000446475.1:p.Gly1088=
ENST00000614496.4:c.2748T>C (MSH6)	ENSP00000477844.1:p.Gly916=
ENST00000622629.4:c.558T>C (MSH6)	ENSP00000482078.1:p.Gly186=
NM_000179.2:c.3654T>C , LRG_219t1:c.3654T>C (MSH6)	NP_000170.1:p.Gly1218=
NM_001281492.1:c.3264T>C (MSH6)	NP_001268421.1:p.Gly1088=
NM_001281493.1:c.2748T>C (MSH6)	NP_001268422.1:p.Gly916=
NM_001281494.1:c.2748T>C (MSH6)	NP_001268423.1:p.Gly916=
XM_005264271.1:c.3357T>C (MSH6)	XP_005264328.1:p.Gly1119=
XM_011532798.1:c.3471T>C (MSH6)	XP_011531100.1:p.Gly1157=
XM_011532799.1:c.3357T>C (MSH6)	XP_011531101.1:p.Gly1119=
XM_011532800.1:c.3357T>C (MSH6)	XP_011531102.1:p.Gly1119=
XM_024452819.1:c.3654T>C (MSH6)	XP_024308587.1:p.Gly1218=
XM_024452820.1:c.3471T>C (MSH6)	XP_024308588.1:p.Gly1157=
XM_024452821.1:c.3357T>C (MSH6)	XP_024308589.1:p.Gly1119=
XM_024452822.1:c.2748T>C (MSH6)	XP_024308590.1:p.Gly916=
NM_000179.3:c.3654T>C (MSH6) MANE Select	NP_000170.1:p.Gly1218=
NM_001281492.2:c.3264T>C (MSH6)	NP_001268421.1:p.Gly1088=
NM_001281493.2:c.2748T>C (MSH6)	NP_001268422.1:p.Gly916=
NM_001281494.2:c.2748T>C (MSH6)	NP_001268423.1:p.Gly916=