Canonical Allele Identifier: CA346757808

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 525807
• ClinVar RCV Id: RCV000630128 ; RCV002325200 ; RCV003451501 ; RCV003459499
• dbSNP Id: rs1553331242
• gnomAD v4: 2-47803418-A-C
• MyVariant Identifiers: chr2:g.48030557A>C (hg19) ; chr2:g.47803418A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47803418A>C , CM000664.2:g.47803418A>C	GRCh38
NC_000002.11:g.48030557A>C , CM000664.1:g.48030557A>C	GRCh37
NC_000002.10:g.47884061A>C	NCBI36
NG_007111.1:g.25272A>C , LRG_219:g.25272A>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2876-2A>C (MSH6)	ENSP00000406248.2:n.2876-2A>C
ENST00000420813.6:c.2876-2A>C (MSH6)	ENSP00000390382.2:n.2876-2A>C
ENST00000455383.6:c.2876-2A>C (MSH6)	ENSP00000397484.2:n.2876-2A>C
ENST00000700004.2:c.3173-2200A>C (MSH6)	ENSP00000514752.2:n.3173-2200A>C
ENST00000699999.1:n.3257-2A>C (MSH6)
ENST00000700000.1:c.1607-2A>C (MSH6)	ENSP00000514749.1:n.1607-2A>C
ENST00000700002.1:c.3179-2A>C (MSH6)	ENSP00000514750.1:n.3179-2A>C
ENST00000700003.1:c.628-2A>C (MSH6)	ENSP00000514751.1:n.628-2A>C
ENST00000700004.1:c.2330-2200A>C (MSH6)	ENSP00000514752.1:n.2330-2200A>C
ENST00000700005.1:n.2022A>C (MSH6)
ENST00000700006.1:n.2019A>C (MSH6)
ENST00000700007.1:n.1176A>C (MSH6)
ENST00000700008.1:n.750A>C (MSH6)
ENST00000700009.1:n.749A>C (MSH6)
ENST00000700010.1:n.582-2A>C (MSH6)
ENST00000700011.1:n.651A>C (MSH6)
ENST00000234420.11:c.3173-2A>C (MSH6) MANE Select	ENSP00000234420.5:n.3173-2A>C
ENST00000540021.6:c.2783-2A>C (MSH6)	ENSP00000446475.1:n.2783-2A>C
ENST00000652107.1:c.2876-2A>C (MSH6)	ENSP00000498629.1:n.2876-2A>C
ENST00000673637.1:c.2876-2A>C (MSH6)	ENSP00000501310.1:n.2876-2A>C
ENST00000234420.9:c.3173-2A>C (MSH6)	ENSP00000234420.4:n.3173-2A>C
ENST00000405808.5:c.169+4777T>G (FBXO11)	ENSP00000385127.1:n.169+4777T>G
ENST00000434234.5:c.*124+4576T>G (FBXO11)	ENSP00000402692.1:n.*124+4576T>G
ENST00000445503.5:c.*2520-2A>C (MSH6)	ENSP00000405294.1:n.*2520-2A>C
ENST00000538136.1:c.2267-2A>C (MSH6)	ENSP00000438580.1:n.2267-2A>C
ENST00000540021.5:c.2783-2A>C (MSH6)	ENSP00000446475.1:n.2783-2A>C
ENST00000614496.4:c.2267-2A>C (MSH6)	ENSP00000477844.1:n.2267-2A>C
ENST00000622629.4:c.77-2A>C (MSH6)	ENSP00000482078.1:n.77-2A>C
NM_000179.2:c.3173-2A>C , LRG_219t1:c.3173-2A>C (MSH6)	NP_000170.1:n.3173-2A>C
NM_001281492.1:c.2783-2A>C (MSH6)	NP_001268421.1:n.2783-2A>C
NM_001281493.1:c.2267-2A>C (MSH6)	NP_001268422.1:n.2267-2A>C
NM_001281494.1:c.2267-2A>C (MSH6)	NP_001268423.1:n.2267-2A>C
XM_005264271.1:c.2876-2A>C (MSH6)	XP_005264328.1:n.2876-2A>C
XM_011532798.1:c.2990-2A>C (MSH6)	XP_011531100.1:n.2990-2A>C
XM_011532799.1:c.2876-2A>C (MSH6)	XP_011531101.1:n.2876-2A>C
XM_011532800.1:c.2876-2A>C (MSH6)	XP_011531102.1:n.2876-2A>C
XM_024452819.1:c.3173-2A>C (MSH6)	XP_024308587.1:n.3173-2A>C
XM_024452820.1:c.2990-2A>C (MSH6)	XP_024308588.1:n.2990-2A>C
XM_024452821.1:c.2876-2A>C (MSH6)	XP_024308589.1:n.2876-2A>C
XM_024452822.1:c.2267-2A>C (MSH6)	XP_024308590.1:n.2267-2A>C
NM_000179.3:c.3173-2A>C (MSH6) MANE Select	NP_000170.1:n.3173-2A>C
NM_001281492.2:c.2783-2A>C (MSH6)	NP_001268421.1:n.2783-2A>C
NM_001281493.2:c.2267-2A>C (MSH6)	NP_001268422.1:n.2267-2A>C
NM_001281494.2:c.2267-2A>C (MSH6)	NP_001268423.1:n.2267-2A>C