Canonical Allele Identifier: CA1139771119

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1791099
• ClinVar RCV Id: RCV002450431

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478488_47478489del , CM000664.2:g.47478488_47478489del	GRCh38
NC_000002.11:g.47705627_47705628del , CM000664.1:g.47705627_47705628del	GRCh37
NC_000002.10:g.47559131_47559132del	NCBI36
NG_007110.2:g.80365_80366del , LRG_218:g.80365_80366del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2427_2428del	ENSP00000495641.2:p.Glu809AspfsTer14
ENST00000233146.7:c.2427_2428del MANE Select	ENSP00000233146.2:p.Glu809AspfsTer14
ENST00000543555.6:c.2229_2230del	ENSP00000442697.1:p.Glu743AspfsTer14
ENST00000644092.1:c.*727_*728del	ENSP00000496351.1:n.*727_*728del
ENST00000644900.1:c.280_281del
ENST00000645339.1:c.2427_2428del	ENSP00000496441.1:p.Glu809AspfsTer14
ENST00000645506.1:c.2427_2428del	ENSP00000495455.1:p.Glu809AspfsTer14
ENST00000646415.1:c.2427_2428del	ENSP00000495543.1:p.Glu809AspfsTer14
ENST00000233146.6:c.2427_2428del	ENSP00000233146.2:p.Glu809AspfsTer14
ENST00000406134.5:c.2427_2428del	ENSP00000384199.1:p.Glu809AspfsTer14
ENST00000543555.5:c.2229_2230del	ENSP00000442697.1:p.Glu743AspfsTer14
ENST00000610696.4:c.*823_*824del	ENSP00000483159.1:n.*823_*824del
ENST00000613514.4:c.*967_*968del	ENSP00000484137.1:n.*967_*968del
ENST00000617333.3:c.*1193_*1194del	ENSP00000482468.1:n.*1193_*1194del
ENST00000617938.4:c.*1399_*1400del	ENSP00000481158.1:n.*1399_*1400del
ENST00000621359.2:c.2426_2427del	ENSP00000481416.1:p.Arg809ThrfsTer?
NM_000251.2:c.2427_2428del , LRG_218t1:c.2427_2428del	NP_000242.1:p.Glu809AspfsTer14
NM_001258281.1:c.2229_2230del	NP_001245210.1:p.Glu743AspfsTer14
XM_005264332.2:c.2427_2428del	XP_005264389.2:p.Glu809AspfsTer14
XM_011532867.1:c.2427_2428del	XP_011531169.1:p.Glu809AspfsTer14
XR_939685.1:n.2499_2500del
XM_005264332.4:c.2427_2428del	XP_005264389.2:p.Glu809AspfsTer14
XM_011532867.2:c.2427_2428del	XP_011531169.1:p.Glu809AspfsTer14
XR_001738747.2:n.2489_2490del
XR_939685.2:n.2489_2490del
NM_000251.3:c.2427_2428del MANE Select	NP_000242.1:p.Glu809AspfsTer14