Canonical Allele Identifier: CA425997293

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1082759
• ClinVar RCV Id: RCV001399156
• dbSNP Id: rs2104525498
• MyVariant Identifiers: chr2:g.48032824T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805685T>C , CM000664.2:g.47805685T>C	GRCh38
NC_000002.11:g.48032824T>C , CM000664.1:g.48032824T>C	GRCh37
NC_000002.10:g.47886328T>C	NCBI36
NG_007111.1:g.27539T>C , LRG_219:g.27539T>C
NG_008397.1:g.104991A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3327T>C (MSH6)	ENSP00000406248.2:p.Ser1109=
ENST00000420813.6:c.3327T>C (MSH6)	ENSP00000390382.2:p.Ser1109=
ENST00000455383.6:c.3327T>C (MSH6)	ENSP00000397484.2:p.Ser1109=
ENST00000700004.2:c.3240T>C (MSH6)	ENSP00000514752.2:p.Ser1080=
ENST00000699999.1:n.4298T>C (MSH6)
ENST00000700000.1:c.2058T>C (MSH6)	ENSP00000514749.1:p.Ser686=
ENST00000700002.1:c.3630T>C (MSH6)	ENSP00000514750.1:p.Ser1210=
ENST00000700003.1:c.1079T>C (MSH6)	ENSP00000514751.1:n.1079T>C
ENST00000700004.1:c.2397T>C (MSH6)	ENSP00000514752.1:p.Ser799=
ENST00000700005.1:n.2475T>C (MSH6)
ENST00000700006.1:n.4286T>C (MSH6)
ENST00000700007.1:n.2219T>C (MSH6)
ENST00000700008.1:n.1793T>C (MSH6)
ENST00000700009.1:n.1792T>C (MSH6)
ENST00000700010.1:n.1033T>C (MSH6)
ENST00000700011.1:n.2918T>C (MSH6)
ENST00000234420.11:c.3624T>C (MSH6) MANE Select	ENSP00000234420.5:p.Ser1208=
ENST00000540021.6:c.3234T>C (MSH6)	ENSP00000446475.1:p.Ser1078=
ENST00000652107.1:c.3327T>C (MSH6)	ENSP00000498629.1:p.Ser1109=
ENST00000673637.1:c.3327T>C (MSH6)	ENSP00000501310.1:p.Ser1109=
ENST00000234420.9:c.3624T>C (MSH6)	ENSP00000234420.4:p.Ser1208=
ENST00000405808.5:c.169+2510A>G (FBXO11)	ENSP00000385127.1:n.169+2510A>G
ENST00000434234.5:c.*124+2309A>G (FBXO11)	ENSP00000402692.1:n.*124+2309A>G
ENST00000445503.5:c.*2971T>C (MSH6)	ENSP00000405294.1:n.*2971T>C
ENST00000538136.1:c.2718T>C (MSH6)	ENSP00000438580.1:p.Ser906=
ENST00000540021.5:c.3234T>C (MSH6)	ENSP00000446475.1:p.Ser1078=
ENST00000614496.4:c.2718T>C (MSH6)	ENSP00000477844.1:p.Ser906=
ENST00000622629.4:c.528T>C (MSH6)	ENSP00000482078.1:p.Ser176=
NM_000179.2:c.3624T>C , LRG_219t1:c.3624T>C (MSH6)	NP_000170.1:p.Ser1208=
NM_001281492.1:c.3234T>C (MSH6)	NP_001268421.1:p.Ser1078=
NM_001281493.1:c.2718T>C (MSH6)	NP_001268422.1:p.Ser906=
NM_001281494.1:c.2718T>C (MSH6)	NP_001268423.1:p.Ser906=
XM_005264271.1:c.3327T>C (MSH6)	XP_005264328.1:p.Ser1109=
XM_011532798.1:c.3441T>C (MSH6)	XP_011531100.1:p.Ser1147=
XM_011532799.1:c.3327T>C (MSH6)	XP_011531101.1:p.Ser1109=
XM_011532800.1:c.3327T>C (MSH6)	XP_011531102.1:p.Ser1109=
XM_024452819.1:c.3624T>C (MSH6)	XP_024308587.1:p.Ser1208=
XM_024452820.1:c.3441T>C (MSH6)	XP_024308588.1:p.Ser1147=
XM_024452821.1:c.3327T>C (MSH6)	XP_024308589.1:p.Ser1109=
XM_024452822.1:c.2718T>C (MSH6)	XP_024308590.1:p.Ser906=
NM_000179.3:c.3624T>C (MSH6) MANE Select	NP_000170.1:p.Ser1208=
NM_001281492.2:c.3234T>C (MSH6)	NP_001268421.1:p.Ser1078=
NM_001281493.2:c.2718T>C (MSH6)	NP_001268422.1:p.Ser906=
NM_001281494.2:c.2718T>C (MSH6)	NP_001268423.1:p.Ser906=