Canonical Allele Identifier: CA346759882

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 428363
• ClinVar RCV Id: RCV000491972 ; RCV000703833 ; RCV003449312
• dbSNP Id: rs267608098
• MyVariant Identifiers: chr2:g.48032047A>T (hg19) ; chr2:g.47804908A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47804908A>T , CM000664.2:g.47804908A>T	GRCh38
NC_000002.11:g.48032047A>T , CM000664.1:g.48032047A>T	GRCh37
NC_000002.10:g.47885551A>T	NCBI36
NG_007111.1:g.26762A>T , LRG_219:g.26762A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3142-2A>T (MSH6)	ENSP00000406248.2:n.3142-2A>T
ENST00000420813.6:c.3142-2A>T (MSH6)	ENSP00000390382.2:n.3142-2A>T
ENST00000455383.6:c.3142-2A>T (MSH6)	ENSP00000397484.2:n.3142-2A>T
ENST00000700004.2:c.3173-710A>T (MSH6)	ENSP00000514752.2:n.3173-710A>T
ENST00000699999.1:n.3523-2A>T (MSH6)
ENST00000700000.1:c.1873-2A>T (MSH6)	ENSP00000514749.1:n.1873-2A>T
ENST00000700002.1:c.3445-2A>T (MSH6)	ENSP00000514750.1:n.3445-2A>T
ENST00000700003.1:c.894-2A>T (MSH6)	ENSP00000514751.1:n.894-2A>T
ENST00000700004.1:c.2330-710A>T (MSH6)	ENSP00000514752.1:n.2330-710A>T
ENST00000700005.1:n.2290-2A>T (MSH6)
ENST00000700006.1:n.3509A>T (MSH6)
ENST00000700007.1:n.1444-2A>T (MSH6)
ENST00000700008.1:n.1018-2A>T (MSH6)
ENST00000700009.1:n.1017-2A>T (MSH6)
ENST00000700010.1:n.848-2A>T (MSH6)
ENST00000700011.1:n.2141A>T (MSH6)
ENST00000234420.11:c.3439-2A>T (MSH6) MANE Select	ENSP00000234420.5:n.3439-2A>T
ENST00000540021.6:c.3049-2A>T (MSH6)	ENSP00000446475.1:n.3049-2A>T
ENST00000652107.1:c.3142-2A>T (MSH6)	ENSP00000498629.1:n.3142-2A>T
ENST00000673637.1:c.3142-2A>T (MSH6)	ENSP00000501310.1:n.3142-2A>T
ENST00000234420.9:c.3439-2A>T (MSH6)	ENSP00000234420.4:n.3439-2A>T
ENST00000405808.5:c.169+3287T>A (FBXO11)	ENSP00000385127.1:n.169+3287T>A
ENST00000434234.5:c.*124+3086T>A (FBXO11)	ENSP00000402692.1:n.*124+3086T>A
ENST00000445503.5:c.*2786-2A>T (MSH6)	ENSP00000405294.1:n.*2786-2A>T
ENST00000538136.1:c.2533-2A>T (MSH6)	ENSP00000438580.1:n.2533-2A>T
ENST00000540021.5:c.3049-2A>T (MSH6)	ENSP00000446475.1:n.3049-2A>T
ENST00000614496.4:c.2533-2A>T (MSH6)	ENSP00000477844.1:n.2533-2A>T
ENST00000622629.4:c.341A>T (MSH6)	ENSP00000482078.1:p.Gln114Leu
NM_000179.2:c.3439-2A>T , LRG_219t1:c.3439-2A>T (MSH6)	NP_000170.1:n.3439-2A>T
NM_001281492.1:c.3049-2A>T (MSH6)	NP_001268421.1:n.3049-2A>T
NM_001281493.1:c.2533-2A>T (MSH6)	NP_001268422.1:n.2533-2A>T
NM_001281494.1:c.2533-2A>T (MSH6)	NP_001268423.1:n.2533-2A>T
XM_005264271.1:c.3142-2A>T (MSH6)	XP_005264328.1:n.3142-2A>T
XM_011532798.1:c.3256-2A>T (MSH6)	XP_011531100.1:n.3256-2A>T
XM_011532799.1:c.3142-2A>T (MSH6)	XP_011531101.1:n.3142-2A>T
XM_011532800.1:c.3142-2A>T (MSH6)	XP_011531102.1:n.3142-2A>T
XM_024452819.1:c.3439-2A>T (MSH6)	XP_024308587.1:n.3439-2A>T
XM_024452820.1:c.3256-2A>T (MSH6)	XP_024308588.1:n.3256-2A>T
XM_024452821.1:c.3142-2A>T (MSH6)	XP_024308589.1:n.3142-2A>T
XM_024452822.1:c.2533-2A>T (MSH6)	XP_024308590.1:n.2533-2A>T
NM_000179.3:c.3439-2A>T (MSH6) MANE Select	NP_000170.1:n.3439-2A>T
NM_001281492.2:c.3049-2A>T (MSH6)	NP_001268421.1:n.3049-2A>T
NM_001281493.2:c.2533-2A>T (MSH6)	NP_001268422.1:n.2533-2A>T
NM_001281494.2:c.2533-2A>T (MSH6)	NP_001268423.1:n.2533-2A>T