Canonical Allele Identifier: CA346750947

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 483772
• ClinVar RCV Id: RCV000561829 ; RCV001315932
• dbSNP Id: rs370237509
• gnomAD v4: 2-47800094-C-T
• MyVariant Identifiers: chr2:g.48027233C>T (hg19) ; chr2:g.47800094C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800094C>T , CM000664.2:g.47800094C>T	GRCh38
NC_000002.11:g.48027233C>T , CM000664.1:g.48027233C>T	GRCh37
NC_000002.10:g.47880737C>T	NCBI36
NG_007111.1:g.21948C>T , LRG_219:g.21948C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.1814C>T (MSH6)	ENSP00000406248.2:p.Ala605Val
ENST00000420813.6:c.1814C>T (MSH6)	ENSP00000390382.2:p.Ala605Val
ENST00000455383.6:c.1814C>T (MSH6)	ENSP00000397484.2:p.Ala605Val
ENST00000700004.2:c.2111C>T (MSH6)	ENSP00000514752.2:p.Ala704Val
ENST00000699999.1:n.2195C>T (MSH6)
ENST00000700000.1:c.1606+505C>T (MSH6)	ENSP00000514749.1:n.1606+505C>T
ENST00000700002.1:c.2117C>T (MSH6)	ENSP00000514750.1:p.Ala706Val
ENST00000700003.1:c.628-3326C>T (MSH6)	ENSP00000514751.1:n.628-3326C>T
ENST00000700004.1:c.1268C>T (MSH6)	ENSP00000514752.1:p.Ala423Val
ENST00000234420.11:c.2111C>T (MSH6) MANE Select	ENSP00000234420.5:p.Ala704Val
ENST00000540021.6:c.1721C>T (MSH6)	ENSP00000446475.1:p.Ala574Val
ENST00000652107.1:c.1814C>T (MSH6)	ENSP00000498629.1:p.Ala605Val
ENST00000673637.1:c.1814C>T (MSH6)	ENSP00000501310.1:p.Ala605Val
ENST00000234420.9:c.2111C>T (MSH6)	ENSP00000234420.4:p.Ala704Val
ENST00000405808.5:c.169+8101G>A (FBXO11)	ENSP00000385127.1:n.169+8101G>A
ENST00000434234.5:c.*124+7900G>A (FBXO11)	ENSP00000402692.1:n.*124+7900G>A
ENST00000445503.5:c.*1458C>T (MSH6)	ENSP00000405294.1:n.*1458C>T
ENST00000538136.1:c.1205C>T (MSH6)	ENSP00000438580.1:p.Ala402Val
ENST00000540021.5:c.1721C>T (MSH6)	ENSP00000446475.1:p.Ala574Val
ENST00000614496.4:c.1205C>T (MSH6)	ENSP00000477844.1:p.Ala402Val
ENST00000616033.4:c.2108C>T (MSH6)	ENSP00000480261.1:p.Ala703Val
ENST00000622629.4:c.-986C>T (MSH6)	ENSP00000482078.1:n.-986C>T
NM_000179.2:c.2111C>T , LRG_219t1:c.2111C>T (MSH6)	NP_000170.1:p.Ala704Val
NM_001281492.1:c.1721C>T (MSH6)	NP_001268421.1:p.Ala574Val
NM_001281493.1:c.1205C>T (MSH6)	NP_001268422.1:p.Ala402Val
NM_001281494.1:c.1205C>T (MSH6)	NP_001268423.1:p.Ala402Val
XM_005264271.1:c.1814C>T (MSH6)	XP_005264328.1:p.Ala605Val
XM_011532798.1:c.1928C>T (MSH6)	XP_011531100.1:p.Ala643Val
XM_011532799.1:c.1814C>T (MSH6)	XP_011531101.1:p.Ala605Val
XM_011532800.1:c.1814C>T (MSH6)	XP_011531102.1:p.Ala605Val
XM_024452819.1:c.2111C>T (MSH6)	XP_024308587.1:p.Ala704Val
XM_024452820.1:c.1928C>T (MSH6)	XP_024308588.1:p.Ala643Val
XM_024452821.1:c.1814C>T (MSH6)	XP_024308589.1:p.Ala605Val
XM_024452822.1:c.1205C>T (MSH6)	XP_024308590.1:p.Ala402Val
NM_000179.3:c.2111C>T (MSH6) MANE Select	NP_000170.1:p.Ala704Val
NM_001281492.2:c.1721C>T (MSH6)	NP_001268421.1:p.Ala574Val
NM_001281493.2:c.1205C>T (MSH6)	NP_001268422.1:p.Ala402Val
NM_001281494.2:c.1205C>T (MSH6)	NP_001268423.1:p.Ala402Val