Canonical Allele Identifier: CA346760398

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 428332
• ClinVar RCV Id: RCV000491533 ; RCV003449305 ; RCV001355461 ; RCV001851337
• dbSNP Id: rs1114167723
• MyVariant Identifiers: chr2:g.48032756G>C (hg19) ; chr2:g.47805617G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47805617G>C , CM000664.2:g.47805617G>C	GRCh38
NC_000002.11:g.48032756G>C , CM000664.1:g.48032756G>C	GRCh37
NC_000002.10:g.47886260G>C	NCBI36
NG_007111.1:g.27471G>C , LRG_219:g.27471G>C
NG_008397.1:g.105059C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.3260-1G>C (MSH6)	ENSP00000406248.2:n.3260-1G>C
ENST00000420813.6:c.3260-1G>C (MSH6)	ENSP00000390382.2:n.3260-1G>C
ENST00000455383.6:c.3260-1G>C (MSH6)	ENSP00000397484.2:n.3260-1G>C
ENST00000700004.2:c.3173-1G>C (MSH6)	ENSP00000514752.2:n.3173-1G>C
ENST00000699999.1:n.4230G>C (MSH6)
ENST00000700000.1:c.1991-1G>C (MSH6)	ENSP00000514749.1:n.1991-1G>C
ENST00000700002.1:c.3563-1G>C (MSH6)	ENSP00000514750.1:n.3563-1G>C
ENST00000700003.1:c.1012-1G>C (MSH6)	ENSP00000514751.1:n.1012-1G>C
ENST00000700004.1:c.2330-1G>C (MSH6)	ENSP00000514752.1:n.2330-1G>C
ENST00000700005.1:n.2408-1G>C (MSH6)
ENST00000700006.1:n.4218G>C (MSH6)
ENST00000700007.1:n.2151G>C (MSH6)
ENST00000700008.1:n.1725G>C (MSH6)
ENST00000700009.1:n.1724G>C (MSH6)
ENST00000700010.1:n.966-1G>C (MSH6)
ENST00000700011.1:n.2850G>C (MSH6)
ENST00000234420.11:c.3557-1G>C (MSH6) MANE Select	ENSP00000234420.5:n.3557-1G>C
ENST00000540021.6:c.3167-1G>C (MSH6)	ENSP00000446475.1:n.3167-1G>C
ENST00000652107.1:c.3260-1G>C (MSH6)	ENSP00000498629.1:n.3260-1G>C
ENST00000673637.1:c.3260-1G>C (MSH6)	ENSP00000501310.1:n.3260-1G>C
ENST00000234420.9:c.3557-1G>C (MSH6)	ENSP00000234420.4:n.3557-1G>C
ENST00000405808.5:c.169+2578C>G (FBXO11)	ENSP00000385127.1:n.169+2578C>G
ENST00000434234.5:c.*124+2377C>G (FBXO11)	ENSP00000402692.1:n.*124+2377C>G
ENST00000445503.5:c.*2904-1G>C (MSH6)	ENSP00000405294.1:n.*2904-1G>C
ENST00000538136.1:c.2651-1G>C (MSH6)	ENSP00000438580.1:n.2651-1G>C
ENST00000540021.5:c.3167-1G>C (MSH6)	ENSP00000446475.1:n.3167-1G>C
ENST00000614496.4:c.2651-1G>C (MSH6)	ENSP00000477844.1:n.2651-1G>C
ENST00000622629.4:c.461-1G>C (MSH6)	ENSP00000482078.1:n.461-1G>C
NM_000179.2:c.3557-1G>C , LRG_219t1:c.3557-1G>C (MSH6)	NP_000170.1:n.3557-1G>C
NM_001281492.1:c.3167-1G>C (MSH6)	NP_001268421.1:n.3167-1G>C
NM_001281493.1:c.2651-1G>C (MSH6)	NP_001268422.1:n.2651-1G>C
NM_001281494.1:c.2651-1G>C (MSH6)	NP_001268423.1:n.2651-1G>C
XM_005264271.1:c.3260-1G>C (MSH6)	XP_005264328.1:n.3260-1G>C
XM_011532798.1:c.3374-1G>C (MSH6)	XP_011531100.1:n.3374-1G>C
XM_011532799.1:c.3260-1G>C (MSH6)	XP_011531101.1:n.3260-1G>C
XM_011532800.1:c.3260-1G>C (MSH6)	XP_011531102.1:n.3260-1G>C
XM_024452819.1:c.3557-1G>C (MSH6)	XP_024308587.1:n.3557-1G>C
XM_024452820.1:c.3374-1G>C (MSH6)	XP_024308588.1:n.3374-1G>C
XM_024452821.1:c.3260-1G>C (MSH6)	XP_024308589.1:n.3260-1G>C
XM_024452822.1:c.2651-1G>C (MSH6)	XP_024308590.1:n.2651-1G>C
NM_000179.3:c.3557-1G>C (MSH6) MANE Select	NP_000170.1:n.3557-1G>C
NM_001281492.2:c.3167-1G>C (MSH6)	NP_001268421.1:n.3167-1G>C
NM_001281493.2:c.2651-1G>C (MSH6)	NP_001268422.1:n.2651-1G>C
NM_001281494.2:c.2651-1G>C (MSH6)	NP_001268423.1:n.2651-1G>C