Canonical Allele Identifier: CA346740217

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 491992
• ClinVar RCV Id: RCV000584543 ; RCV000705703 ; RCV001174609 ; RCV004002357
• dbSNP Id: rs1553412195
• gnomAD v4: 2-47798756-T-C
• COSMIC: COSM48574
• MyVariant Identifiers: chr2:g.48025895T>C (hg19) ; chr2:g.47798756T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47798756T>C , CM000664.2:g.47798756T>C	GRCh38
NC_000002.11:g.48025895T>C , CM000664.1:g.48025895T>C	GRCh37
NC_000002.10:g.47879399T>C	NCBI36
NG_007111.1:g.20610T>C , LRG_219:g.20610T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.476T>C (MSH6)	ENSP00000406248.2:p.Ile159Thr
ENST00000420813.6:c.476T>C (MSH6)	ENSP00000390382.2:p.Ile159Thr
ENST00000455383.6:c.476T>C (MSH6)	ENSP00000397484.2:p.Ile159Thr
ENST00000700004.2:c.773T>C (MSH6)	ENSP00000514752.2:p.Ile258Thr
ENST00000699999.1:n.857T>C (MSH6)
ENST00000700000.1:c.773T>C (MSH6)	ENSP00000514749.1:p.Ile258Thr
ENST00000700002.1:c.779T>C (MSH6)	ENSP00000514750.1:p.Ile260Thr
ENST00000700003.1:c.627+2693T>C (MSH6)	ENSP00000514751.1:n.627+2693T>C
ENST00000234420.11:c.773T>C (MSH6) MANE Select	ENSP00000234420.5:p.Ile258Thr
ENST00000540021.6:c.383T>C (MSH6)	ENSP00000446475.1:p.Ile128Thr
ENST00000652107.1:c.476T>C (MSH6)	ENSP00000498629.1:p.Ile159Thr
ENST00000673637.1:c.476T>C (MSH6)	ENSP00000501310.1:p.Ile159Thr
ENST00000673922.1:n.495T>C (MSH6)
ENST00000234420.9:c.773T>C (MSH6)	ENSP00000234420.4:p.Ile258Thr
ENST00000405808.5:c.170-9316A>G (FBXO11)	ENSP00000385127.1:n.170-9316A>G
ENST00000434234.5:c.*124+9238A>G (FBXO11)	ENSP00000402692.1:n.*124+9238A>G
ENST00000445503.5:c.*120T>C (MSH6)	ENSP00000405294.1:n.*120T>C
ENST00000456246.1:c.*261T>C (MSH6)	ENSP00000410570.1:n.*261T>C
ENST00000538136.1:c.-134T>C (MSH6)	ENSP00000438580.1:n.-134T>C
ENST00000540021.5:c.383T>C (MSH6)	ENSP00000446475.1:p.Ile128Thr
ENST00000614496.4:c.-134T>C (MSH6)	ENSP00000477844.1:n.-134T>C
ENST00000616033.4:c.770T>C (MSH6)	ENSP00000480261.1:p.Ile257Thr
ENST00000622629.4:c.-2324T>C (MSH6)	ENSP00000482078.1:n.-2324T>C
NM_000179.2:c.773T>C , LRG_219t1:c.773T>C (MSH6)	NP_000170.1:p.Ile258Thr
NM_001281492.1:c.383T>C (MSH6)	NP_001268421.1:p.Ile128Thr
NM_001281493.1:c.-134T>C (MSH6)	NP_001268422.1:n.-134T>C
NM_001281494.1:c.-134T>C (MSH6)	NP_001268423.1:n.-134T>C
XM_005264271.1:c.476T>C (MSH6)	XP_005264328.1:p.Ile159Thr
XM_011532798.1:c.590T>C (MSH6)	XP_011531100.1:p.Ile197Thr
XM_011532799.1:c.476T>C (MSH6)	XP_011531101.1:p.Ile159Thr
XM_011532800.1:c.476T>C (MSH6)	XP_011531102.1:p.Ile159Thr
XM_024452819.1:c.773T>C (MSH6)	XP_024308587.1:p.Ile258Thr
XM_024452820.1:c.590T>C (MSH6)	XP_024308588.1:p.Ile197Thr
XM_024452821.1:c.476T>C (MSH6)	XP_024308589.1:p.Ile159Thr
XM_024452822.1:c.-134T>C (MSH6)	XP_024308590.1:n.-134T>C
NM_000179.3:c.773T>C (MSH6) MANE Select	NP_000170.1:p.Ile258Thr
NM_001281492.2:c.383T>C (MSH6)	NP_001268421.1:p.Ile128Thr
NM_001281493.2:c.-134T>C (MSH6)	NP_001268422.1:n.-134T>C
NM_001281494.2:c.-134T>C (MSH6)	NP_001268423.1:n.-134T>C