Canonical Allele Identifier: CA068196

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 1022358
• ClinVar RCV Id: RCV001322251 ; RCV001806119 ; RCV002546093
• dbSNP Id: rs773619924
• ExAC: 2:48026971 C / A
• gnomAD v2: 2-48026971-C-A
• gnomAD v4: 2-47799832-C-A
• MyVariant Identifiers: chr2:g.48026971C>A (hg19) ; chr2:g.47799832C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47799832C>A , CM000664.2:g.47799832C>A	GRCh38
NC_000002.11:g.48026971C>A , CM000664.1:g.48026971C>A	GRCh37
NC_000002.10:g.47880475C>A	NCBI36
NG_007111.1:g.21686C>A , LRG_219:g.21686C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.1552C>A (MSH6)	ENSP00000406248.2:p.Leu518Ile
ENST00000420813.6:c.1552C>A (MSH6)	ENSP00000390382.2:p.Leu518Ile
ENST00000455383.6:c.1552C>A (MSH6)	ENSP00000397484.2:p.Leu518Ile
ENST00000700004.2:c.1849C>A (MSH6)	ENSP00000514752.2:p.Leu617Ile
ENST00000699999.1:n.1933C>A (MSH6)
ENST00000700000.1:c.1606+243C>A (MSH6)	ENSP00000514749.1:n.1606+243C>A
ENST00000700002.1:c.1855C>A (MSH6)	ENSP00000514750.1:p.Leu619Ile
ENST00000700003.1:c.628-3588C>A (MSH6)	ENSP00000514751.1:n.628-3588C>A
ENST00000700004.1:c.1006C>A (MSH6)	ENSP00000514752.1:p.Leu336Ile
ENST00000234420.11:c.1849C>A (MSH6) MANE Select	ENSP00000234420.5:p.Leu617Ile
ENST00000540021.6:c.1459C>A (MSH6)	ENSP00000446475.1:p.Leu487Ile
ENST00000652107.1:c.1552C>A (MSH6)	ENSP00000498629.1:p.Leu518Ile
ENST00000673637.1:c.1552C>A (MSH6)	ENSP00000501310.1:p.Leu518Ile
ENST00000234420.9:c.1849C>A (MSH6)	ENSP00000234420.4:p.Leu617Ile
ENST00000405808.5:c.169+8363G>T (FBXO11)	ENSP00000385127.1:n.169+8363G>T
ENST00000434234.5:c.*124+8162G>T (FBXO11)	ENSP00000402692.1:n.*124+8162G>T
ENST00000445503.5:c.*1196C>A (MSH6)	ENSP00000405294.1:n.*1196C>A
ENST00000538136.1:c.943C>A (MSH6)	ENSP00000438580.1:p.Leu315Ile
ENST00000540021.5:c.1459C>A (MSH6)	ENSP00000446475.1:p.Leu487Ile
ENST00000614496.4:c.943C>A (MSH6)	ENSP00000477844.1:p.Leu315Ile
ENST00000616033.4:c.1846C>A (MSH6)	ENSP00000480261.1:p.Leu616Ile
ENST00000622629.4:c.-1248C>A (MSH6)	ENSP00000482078.1:n.-1248C>A
NM_000179.2:c.1849C>A , LRG_219t1:c.1849C>A (MSH6)	NP_000170.1:p.Leu617Ile
NM_001281492.1:c.1459C>A (MSH6)	NP_001268421.1:p.Leu487Ile
NM_001281493.1:c.943C>A (MSH6)	NP_001268422.1:p.Leu315Ile
NM_001281494.1:c.943C>A (MSH6)	NP_001268423.1:p.Leu315Ile
XM_005264271.1:c.1552C>A (MSH6)	XP_005264328.1:p.Leu518Ile
XM_011532798.1:c.1666C>A (MSH6)	XP_011531100.1:p.Leu556Ile
XM_011532799.1:c.1552C>A (MSH6)	XP_011531101.1:p.Leu518Ile
XM_011532800.1:c.1552C>A (MSH6)	XP_011531102.1:p.Leu518Ile
XM_024452819.1:c.1849C>A (MSH6)	XP_024308587.1:p.Leu617Ile
XM_024452820.1:c.1666C>A (MSH6)	XP_024308588.1:p.Leu556Ile
XM_024452821.1:c.1552C>A (MSH6)	XP_024308589.1:p.Leu518Ile
XM_024452822.1:c.943C>A (MSH6)	XP_024308590.1:p.Leu315Ile
NM_000179.3:c.1849C>A (MSH6) MANE Select	NP_000170.1:p.Leu617Ile
NM_001281492.2:c.1459C>A (MSH6)	NP_001268421.1:p.Leu487Ile
NM_001281493.2:c.943C>A (MSH6)	NP_001268422.1:p.Leu315Ile
NM_001281494.2:c.943C>A (MSH6)	NP_001268423.1:p.Leu315Ile