Canonical Allele Identifier: CA426121931

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 2127562
• ClinVar RCV Id: RCV003035898
• MyVariant Identifiers: chr2:g.48030695T>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803556T>C , CM000664.2:g.47803556T>C	GRCh38
NC_000002.11:g.48030695T>C , CM000664.1:g.48030695T>C	GRCh37
NC_000002.10:g.47884199T>C	NCBI36
NG_007111.1:g.25410T>C , LRG_219:g.25410T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3012T>C (MSH6)	ENSP00000406248.2:p.Phe1004=
ENST00000420813.6:c.3012T>C (MSH6)	ENSP00000390382.2:p.Phe1004=
ENST00000455383.6:c.3012T>C (MSH6)	ENSP00000397484.2:p.Phe1004=
ENST00000700004.2:c.3173-2062T>C (MSH6)	ENSP00000514752.2:n.3173-2062T>C
ENST00000699999.1:n.3393T>C (MSH6)
ENST00000700000.1:c.1743T>C (MSH6)	ENSP00000514749.1:p.Phe581=
ENST00000700002.1:c.3315T>C (MSH6)	ENSP00000514750.1:p.Phe1105=
ENST00000700003.1:c.764T>C (MSH6)	ENSP00000514751.1:n.764T>C
ENST00000700004.1:c.2330-2062T>C (MSH6)	ENSP00000514752.1:n.2330-2062T>C
ENST00000700005.1:n.2160T>C (MSH6)
ENST00000700006.1:n.2157T>C (MSH6)
ENST00000700007.1:n.1314T>C (MSH6)
ENST00000700008.1:n.888T>C (MSH6)
ENST00000700009.1:n.887T>C (MSH6)
ENST00000700010.1:n.718T>C (MSH6)
ENST00000700011.1:n.789T>C (MSH6)
ENST00000234420.11:c.3309T>C (MSH6) MANE Select	ENSP00000234420.5:p.Phe1103=
ENST00000540021.6:c.2919T>C (MSH6)	ENSP00000446475.1:p.Phe973=
ENST00000652107.1:c.3012T>C (MSH6)	ENSP00000498629.1:p.Phe1004=
ENST00000673637.1:c.3012T>C (MSH6)	ENSP00000501310.1:p.Phe1004=
ENST00000234420.9:c.3309T>C (MSH6)	ENSP00000234420.4:p.Phe1103=
ENST00000405808.5:c.169+4639A>G (FBXO11)	ENSP00000385127.1:n.169+4639A>G
ENST00000434234.5:c.*124+4438A>G (FBXO11)	ENSP00000402692.1:n.*124+4438A>G
ENST00000445503.5:c.*2656T>C (MSH6)	ENSP00000405294.1:n.*2656T>C
ENST00000538136.1:c.2403T>C (MSH6)	ENSP00000438580.1:p.Phe801=
ENST00000540021.5:c.2919T>C (MSH6)	ENSP00000446475.1:p.Phe973=
ENST00000614496.4:c.2403T>C (MSH6)	ENSP00000477844.1:p.Phe801=
ENST00000622629.4:c.213T>C (MSH6)	ENSP00000482078.1:p.Phe71=
NM_000179.2:c.3309T>C , LRG_219t1:c.3309T>C (MSH6)	NP_000170.1:p.Phe1103=
NM_001281492.1:c.2919T>C (MSH6)	NP_001268421.1:p.Phe973=
NM_001281493.1:c.2403T>C (MSH6)	NP_001268422.1:p.Phe801=
NM_001281494.1:c.2403T>C (MSH6)	NP_001268423.1:p.Phe801=
XM_005264271.1:c.3012T>C (MSH6)	XP_005264328.1:p.Phe1004=
XM_011532798.1:c.3126T>C (MSH6)	XP_011531100.1:p.Phe1042=
XM_011532799.1:c.3012T>C (MSH6)	XP_011531101.1:p.Phe1004=
XM_011532800.1:c.3012T>C (MSH6)	XP_011531102.1:p.Phe1004=
XM_024452819.1:c.3309T>C (MSH6)	XP_024308587.1:p.Phe1103=
XM_024452820.1:c.3126T>C (MSH6)	XP_024308588.1:p.Phe1042=
XM_024452821.1:c.3012T>C (MSH6)	XP_024308589.1:p.Phe1004=
XM_024452822.1:c.2403T>C (MSH6)	XP_024308590.1:p.Phe801=
NM_000179.3:c.3309T>C (MSH6) MANE Select	NP_000170.1:p.Phe1103=
NM_001281492.2:c.2919T>C (MSH6)	NP_001268421.1:p.Phe973=
NM_001281493.2:c.2403T>C (MSH6)	NP_001268422.1:p.Phe801=
NM_001281494.2:c.2403T>C (MSH6)	NP_001268423.1:p.Phe801=