Canonical Allele Identifier: CA10582038

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 237207
• ClinVar RCV Id: RCV000233238 ; RCV000418892 ; RCV000569012 ; RCV001392141 ; RCV003897516
• dbSNP Id: rs878853746
• gnomAD v2: 2-48018213-C-T
• gnomAD v4: 2-47791074-C-T
• MyVariant Identifiers: chr2:g.48018213C>T (hg19) ; chr2:g.47791074C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47791074C>T , CM000664.2:g.47791074C>T	GRCh38
NC_000002.11:g.48018213C>T , CM000664.1:g.48018213C>T	GRCh37
NC_000002.10:g.47871717C>T	NCBI36
NG_007111.1:g.12928C>T , LRG_219:g.12928C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000411819.2:c.111C>T (MSH6)	ENSP00000406248.2:p.Asp37=
ENST00000420813.6:c.111C>T (MSH6)	ENSP00000390382.2:p.Asp37=
ENST00000455383.6:c.111C>T (MSH6)	ENSP00000397484.2:p.Asp37=
ENST00000700004.2:c.408C>T (MSH6)	ENSP00000514752.2:p.Asp136=
ENST00000699999.1:n.492C>T (MSH6)
ENST00000700000.1:c.408C>T (MSH6)	ENSP00000514749.1:p.Asp136=
ENST00000700001.1:n.480C>T (MSH6)
ENST00000700002.1:c.408C>T (MSH6)	ENSP00000514750.1:p.Asp136=
ENST00000700003.1:c.408C>T (MSH6)	ENSP00000514751.1:p.Asp136=
ENST00000234420.11:c.408C>T (MSH6) MANE Select	ENSP00000234420.5:p.Asp136=
ENST00000540021.6:c.238-7537C>T (MSH6)	ENSP00000446475.1:n.238-7537C>T
ENST00000652107.1:c.111C>T (MSH6)	ENSP00000498629.1:p.Asp37=
ENST00000673637.1:c.111C>T (MSH6)	ENSP00000501310.1:p.Asp37=
ENST00000673922.1:n.350-7537C>T (MSH6)
ENST00000234420.9:c.408C>T (MSH6)	ENSP00000234420.4:p.Asp136=
ENST00000405808.5:c.170-1634G>A (FBXO11)	ENSP00000385127.1:n.170-1634G>A
ENST00000411819.1:c.111C>T (MSH6)	ENSP00000406248.1:p.Asp37=
ENST00000420813.5:c.111C>T (MSH6)	ENSP00000390382.1:p.Asp37=
ENST00000434234.5:c.*125-1634G>A (FBXO11)	ENSP00000402692.1:n.*125-1634G>A
ENST00000445503.5:c.408C>T (MSH6)	ENSP00000405294.1:p.Asp136=
ENST00000455383.5:c.111C>T (MSH6)	ENSP00000397484.1:p.Asp37=
ENST00000456246.1:c.261-4820C>T (MSH6)	ENSP00000410570.1:n.261-4820C>T
ENST00000538136.1:c.-495C>T (MSH6)	ENSP00000438580.1:n.-495C>T
ENST00000540021.5:c.238-7537C>T (MSH6)	ENSP00000446475.1:n.238-7537C>T
ENST00000606499.1:c.111C>T (MSH6)	ENSP00000475605.1:p.Asp37=
ENST00000614496.4:c.-329C>T (MSH6)	ENSP00000477844.1:n.-329C>T
ENST00000616033.4:c.405C>T (MSH6)	ENSP00000480261.1:p.Asp135=
ENST00000622629.4:c.-2689C>T (MSH6)	ENSP00000482078.1:n.-2689C>T
NM_000179.2:c.408C>T , LRG_219t1:c.408C>T (MSH6)	NP_000170.1:p.Asp136=
NM_001281492.1:c.238-7537C>T (MSH6)	NP_001268421.1:n.238-7537C>T
NM_001281493.1:c.-329C>T (MSH6)	NP_001268422.1:n.-329C>T
NM_001281494.1:c.-495C>T (MSH6)	NP_001268423.1:n.-495C>T
XM_005264271.1:c.111C>T (MSH6)	XP_005264328.1:p.Asp37=
XM_011532798.1:c.225C>T (MSH6)	XP_011531100.1:p.Asp75=
XM_011532799.1:c.111C>T (MSH6)	XP_011531101.1:p.Asp37=
XM_011532800.1:c.111C>T (MSH6)	XP_011531102.1:p.Asp37=
XM_024452819.1:c.408C>T (MSH6)	XP_024308587.1:p.Asp136=
XM_024452820.1:c.225C>T (MSH6)	XP_024308588.1:p.Asp75=
XM_024452821.1:c.111C>T (MSH6)	XP_024308589.1:p.Asp37=
XM_024452822.1:c.-329C>T (MSH6)	XP_024308590.1:n.-329C>T
NM_000179.3:c.408C>T (MSH6) MANE Select	NP_000170.1:p.Asp136=
NM_001281492.2:c.238-7537C>T (MSH6)	NP_001268421.1:n.238-7537C>T
NM_001281493.2:c.-329C>T (MSH6)	NP_001268422.1:n.-329C>T
NM_001281494.2:c.-495C>T (MSH6)	NP_001268423.1:n.-495C>T