Canonical Allele Identifier: CA16604267

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 383157
• ClinVar RCV Id: RCV000424717 ; RCV000469580 ; RCV000574949
• dbSNP Id: rs1057521533
• gnomAD v2: 2-48018108-G-A
• gnomAD v4: 2-47790969-G-A
• MyVariant Identifiers: chr2:g.48018108G>A (hg19) ; chr2:g.47790969G>A (hg38)
• PubMed: PMID:22495361

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47790969G>A , CM000664.2:g.47790969G>A	GRCh38
NC_000002.11:g.48018108G>A , CM000664.1:g.48018108G>A	GRCh37
NC_000002.10:g.47871612G>A	NCBI36
NG_007111.1:g.12823G>A , LRG_219:g.12823G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.6G>A (MSH6)	ENSP00000406248.2:p.Glu2=
ENST00000420813.6:c.6G>A (MSH6)	ENSP00000390382.2:p.Glu2=
ENST00000455383.6:c.6G>A (MSH6)	ENSP00000397484.2:p.Glu2=
ENST00000700004.2:c.303G>A (MSH6)	ENSP00000514752.2:p.Glu101=
ENST00000699999.1:n.387G>A (MSH6)
ENST00000700000.1:c.303G>A (MSH6)	ENSP00000514749.1:p.Glu101=
ENST00000700001.1:n.375G>A (MSH6)
ENST00000700002.1:c.303G>A (MSH6)	ENSP00000514750.1:p.Glu101=
ENST00000700003.1:c.303G>A (MSH6)	ENSP00000514751.1:p.Glu101=
ENST00000234420.11:c.303G>A (MSH6) MANE Select	ENSP00000234420.5:p.Glu101=
ENST00000540021.6:c.237+7499G>A (MSH6)	ENSP00000446475.1:n.237+7499G>A
ENST00000652107.1:c.6G>A (MSH6)	ENSP00000498629.1:p.Glu2=
ENST00000673637.1:c.6G>A (MSH6)	ENSP00000501310.1:p.Glu2=
ENST00000673922.1:n.349+7476G>A (MSH6)
ENST00000234420.9:c.303G>A (MSH6)	ENSP00000234420.4:p.Glu101=
ENST00000405808.5:c.170-1529C>T (FBXO11)	ENSP00000385127.1:n.170-1529C>T
ENST00000411819.1:c.6G>A (MSH6)	ENSP00000406248.1:p.Glu2=
ENST00000420813.5:c.6G>A (MSH6)	ENSP00000390382.1:p.Glu2=
ENST00000434234.5:c.*125-1529C>T (FBXO11)	ENSP00000402692.1:n.*125-1529C>T
ENST00000445503.5:c.303G>A (MSH6)	ENSP00000405294.1:p.Glu101=
ENST00000455383.5:c.6G>A (MSH6)	ENSP00000397484.1:p.Glu2=
ENST00000456246.1:c.261-4925G>A (MSH6)	ENSP00000410570.1:n.261-4925G>A
ENST00000538136.1:c.-600G>A (MSH6)	ENSP00000438580.1:n.-600G>A
ENST00000540021.5:c.237+7499G>A (MSH6)	ENSP00000446475.1:n.237+7499G>A
ENST00000606499.1:c.6G>A (MSH6)	ENSP00000475605.1:p.Glu2=
ENST00000614496.4:c.-434G>A (MSH6)	ENSP00000477844.1:n.-434G>A
ENST00000616033.4:c.300G>A (MSH6)	ENSP00000480261.1:p.Glu100=
ENST00000622629.4:c.-2794G>A (MSH6)	ENSP00000482078.1:n.-2794G>A
NM_000179.2:c.303G>A , LRG_219t1:c.303G>A (MSH6)	NP_000170.1:p.Glu101=
NM_001281492.1:c.237+7499G>A (MSH6)	NP_001268421.1:n.237+7499G>A
NM_001281493.1:c.-434G>A (MSH6)	NP_001268422.1:n.-434G>A
NM_001281494.1:c.-600G>A (MSH6)	NP_001268423.1:n.-600G>A
XM_005264271.1:c.6G>A (MSH6)	XP_005264328.1:p.Glu2=
XM_011532798.1:c.120G>A (MSH6)	XP_011531100.1:p.Glu40=
XM_011532799.1:c.6G>A (MSH6)	XP_011531101.1:p.Glu2=
XM_011532800.1:c.6G>A (MSH6)	XP_011531102.1:p.Glu2=
XM_024452819.1:c.303G>A (MSH6)	XP_024308587.1:p.Glu101=
XM_024452820.1:c.120G>A (MSH6)	XP_024308588.1:p.Glu40=
XM_024452821.1:c.6G>A (MSH6)	XP_024308589.1:p.Glu2=
XM_024452822.1:c.-434G>A (MSH6)	XP_024308590.1:n.-434G>A
NM_000179.3:c.303G>A (MSH6) MANE Select	NP_000170.1:p.Glu101=
NM_001281492.2:c.237+7499G>A (MSH6)	NP_001268421.1:n.237+7499G>A
NM_001281493.2:c.-434G>A (MSH6)	NP_001268422.1:n.-434G>A
NM_001281494.2:c.-600G>A (MSH6)	NP_001268423.1:n.-600G>A