Canonical Allele Identifier: CA346755629

Gene: MSH6 FBXO11

Linked Data

• ClinVar Variation Id: 525744
• ClinVar RCV Id: RCV000630002 ; RCV002438641
• dbSNP Id: rs1553414175
• MyVariant Identifiers: chr2:g.48027934G>C (hg19) ; chr2:g.47800795G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47800795G>C , CM000664.2:g.47800795G>C	GRCh38
NC_000002.11:g.48027934G>C , CM000664.1:g.48027934G>C	GRCh37
NC_000002.10:g.47881438G>C	NCBI36
NG_007111.1:g.22649G>C , LRG_219:g.22649G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000411819.2:c.2515G>C (MSH6)	ENSP00000406248.2:p.Asp839His
ENST00000420813.6:c.2515G>C (MSH6)	ENSP00000390382.2:p.Asp839His
ENST00000455383.6:c.2515G>C (MSH6)	ENSP00000397484.2:p.Asp839His
ENST00000700004.2:c.2812G>C (MSH6)	ENSP00000514752.2:p.Asp938His
ENST00000699999.1:n.2896G>C (MSH6)
ENST00000700000.1:c.1606+1206G>C (MSH6)	ENSP00000514749.1:n.1606+1206G>C
ENST00000700002.1:c.2818G>C (MSH6)	ENSP00000514750.1:p.Asp940His
ENST00000700003.1:c.628-2625G>C (MSH6)	ENSP00000514751.1:n.628-2625G>C
ENST00000700004.1:c.1969G>C (MSH6)	ENSP00000514752.1:p.Asp657His
ENST00000234420.11:c.2812G>C (MSH6) MANE Select	ENSP00000234420.5:p.Asp938His
ENST00000540021.6:c.2422G>C (MSH6)	ENSP00000446475.1:p.Asp808His
ENST00000652107.1:c.2515G>C (MSH6)	ENSP00000498629.1:p.Asp839His
ENST00000673637.1:c.2515G>C (MSH6)	ENSP00000501310.1:p.Asp839His
ENST00000234420.9:c.2812G>C (MSH6)	ENSP00000234420.4:p.Asp938His
ENST00000405808.5:c.169+7400C>G (FBXO11)	ENSP00000385127.1:n.169+7400C>G
ENST00000434234.5:c.*124+7199C>G (FBXO11)	ENSP00000402692.1:n.*124+7199C>G
ENST00000445503.5:c.*2159G>C (MSH6)	ENSP00000405294.1:n.*2159G>C
ENST00000538136.1:c.1906G>C (MSH6)	ENSP00000438580.1:p.Asp636His
ENST00000540021.5:c.2422G>C (MSH6)	ENSP00000446475.1:p.Asp808His
ENST00000614496.4:c.1906G>C (MSH6)	ENSP00000477844.1:p.Asp636His
ENST00000616033.4:c.2809G>C (MSH6)	ENSP00000480261.1:p.Asp937His
ENST00000622629.4:c.-285G>C (MSH6)	ENSP00000482078.1:n.-285G>C
NM_000179.2:c.2812G>C , LRG_219t1:c.2812G>C (MSH6)	NP_000170.1:p.Asp938His
NM_001281492.1:c.2422G>C (MSH6)	NP_001268421.1:p.Asp808His
NM_001281493.1:c.1906G>C (MSH6)	NP_001268422.1:p.Asp636His
NM_001281494.1:c.1906G>C (MSH6)	NP_001268423.1:p.Asp636His
XM_005264271.1:c.2515G>C (MSH6)	XP_005264328.1:p.Asp839His
XM_011532798.1:c.2629G>C (MSH6)	XP_011531100.1:p.Asp877His
XM_011532799.1:c.2515G>C (MSH6)	XP_011531101.1:p.Asp839His
XM_011532800.1:c.2515G>C (MSH6)	XP_011531102.1:p.Asp839His
XM_024452819.1:c.2812G>C (MSH6)	XP_024308587.1:p.Asp938His
XM_024452820.1:c.2629G>C (MSH6)	XP_024308588.1:p.Asp877His
XM_024452821.1:c.2515G>C (MSH6)	XP_024308589.1:p.Asp839His
XM_024452822.1:c.1906G>C (MSH6)	XP_024308590.1:p.Asp636His
NM_000179.3:c.2812G>C (MSH6) MANE Select	NP_000170.1:p.Asp938His
NM_001281492.2:c.2422G>C (MSH6)	NP_001268421.1:p.Asp808His
NM_001281493.2:c.1906G>C (MSH6)	NP_001268422.1:p.Asp636His
NM_001281494.2:c.1906G>C (MSH6)	NP_001268423.1:p.Asp636His