Canonical Allele Identifier: CA425997712

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 672303
• ClinVar RCV Id: RCV000831548 ; RCV002453915
• dbSNP Id: rs1572744475
• gnomAD v4: 2-47806223-T-C
• MyVariant Identifiers: chr2:g.48033362T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47806223T>C , CM000664.2:g.47806223T>C	GRCh38
NC_000002.11:g.48033362T>C , CM000664.1:g.48033362T>C	GRCh37
NC_000002.10:g.47886866T>C	NCBI36
NG_007111.1:g.28077T>C , LRG_219:g.28077T>C
NG_008397.1:g.104453A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3369T>C (MSH6)	ENSP00000406248.2:p.Phe1123=
ENST00000420813.6:c.3369T>C (MSH6)	ENSP00000390382.2:p.Phe1123=
ENST00000455383.6:c.3369T>C (MSH6)	ENSP00000397484.2:p.Phe1123=
ENST00000700004.2:c.3282T>C (MSH6)	ENSP00000514752.2:p.Phe1094=
ENST00000699999.1:n.4340T>C (MSH6)
ENST00000700000.1:c.2100T>C (MSH6)	ENSP00000514749.1:p.Phe700=
ENST00000700002.1:c.3672T>C (MSH6)	ENSP00000514750.1:p.Phe1224=
ENST00000700003.1:c.1121T>C (MSH6)	ENSP00000514751.1:n.1121T>C
ENST00000700004.1:c.2439T>C (MSH6)	ENSP00000514752.1:p.Phe813=
ENST00000700005.1:n.2517T>C (MSH6)
ENST00000700006.1:n.4824T>C (MSH6)
ENST00000700007.1:n.2261T>C (MSH6)
ENST00000700008.1:n.1835T>C (MSH6)
ENST00000700009.1:n.2330T>C (MSH6)
ENST00000700010.1:n.1075T>C (MSH6)
ENST00000700011.1:n.2960T>C (MSH6)
ENST00000682451.1:n.4525A>G (FBXO11)
ENST00000684712.1:n.4787A>G (FBXO11)
ENST00000234420.11:c.3666T>C (MSH6) MANE Select	ENSP00000234420.5:p.Phe1222=
ENST00000540021.6:c.3276T>C (MSH6)	ENSP00000446475.1:p.Phe1092=
ENST00000652107.1:c.3369T>C (MSH6)	ENSP00000498629.1:p.Phe1123=
ENST00000673637.1:c.3369T>C (MSH6)	ENSP00000501310.1:p.Phe1123=
ENST00000234420.9:c.3666T>C (MSH6)	ENSP00000234420.4:p.Phe1222=
ENST00000405808.5:c.169+1972A>G (FBXO11)	ENSP00000385127.1:n.169+1972A>G
ENST00000434234.5:c.*124+1771A>G (FBXO11)	ENSP00000402692.1:n.*124+1771A>G
ENST00000445503.5:c.*3013T>C (MSH6)	ENSP00000405294.1:n.*3013T>C
ENST00000538136.1:c.2760T>C (MSH6)	ENSP00000438580.1:p.Phe920=
ENST00000540021.5:c.3276T>C (MSH6)	ENSP00000446475.1:p.Phe1092=
ENST00000614496.4:c.2760T>C (MSH6)	ENSP00000477844.1:p.Phe920=
ENST00000622629.4:c.570T>C (MSH6)	ENSP00000482078.1:p.Phe190=
NM_000179.2:c.3666T>C , LRG_219t1:c.3666T>C (MSH6)	NP_000170.1:p.Phe1222=
NM_001281492.1:c.3276T>C (MSH6)	NP_001268421.1:p.Phe1092=
NM_001281493.1:c.2760T>C (MSH6)	NP_001268422.1:p.Phe920=
NM_001281494.1:c.2760T>C (MSH6)	NP_001268423.1:p.Phe920=
XM_005264271.1:c.3369T>C (MSH6)	XP_005264328.1:p.Phe1123=
XM_011532798.1:c.3483T>C (MSH6)	XP_011531100.1:p.Phe1161=
XM_011532799.1:c.3369T>C (MSH6)	XP_011531101.1:p.Phe1123=
XM_011532800.1:c.3369T>C (MSH6)	XP_011531102.1:p.Phe1123=
XM_024452819.1:c.3666T>C (MSH6)	XP_024308587.1:p.Phe1222=
XM_024452820.1:c.3483T>C (MSH6)	XP_024308588.1:p.Phe1161=
XM_024452821.1:c.3369T>C (MSH6)	XP_024308589.1:p.Phe1123=
XM_024452822.1:c.2760T>C (MSH6)	XP_024308590.1:p.Phe920=
NM_000179.3:c.3666T>C (MSH6) MANE Select	NP_000170.1:p.Phe1222=
NM_001281492.2:c.3276T>C (MSH6)	NP_001268421.1:p.Phe1092=
NM_001281493.2:c.2760T>C (MSH6)	NP_001268422.1:p.Phe920=
NM_001281494.2:c.2760T>C (MSH6)	NP_001268423.1:p.Phe920=