Canonical Allele Identifier: CA2580067058

Gene: MSH2

Linked Data

• ClinVar Variation Id: 1791360
• ClinVar RCV Id: RCV002455372

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47478504del , CM000664.2:g.47478504del	GRCh38
NC_000002.11:g.47705643del , CM000664.1:g.47705643del	GRCh37
NC_000002.10:g.47559147del	NCBI36
NG_007110.2:g.80381del , LRG_218:g.80381del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2443del	ENSP00000495641.2:p.Tyr815IlefsTer3
ENST00000233146.7:c.2443del MANE Select	ENSP00000233146.2:p.Tyr815IlefsTer3
ENST00000543555.6:c.2245del	ENSP00000442697.1:p.Tyr749IlefsTer3
ENST00000644092.1:c.*743del	ENSP00000496351.1:n.*743del
ENST00000644900.1:c.296del
ENST00000645339.1:c.2443del	ENSP00000496441.1:p.Tyr815IlefsTer3
ENST00000645506.1:c.2443del	ENSP00000495455.1:p.Tyr815IlefsTer3
ENST00000646415.1:c.2443del	ENSP00000495543.1:p.Tyr815IlefsTer3
ENST00000233146.6:c.2443del	ENSP00000233146.2:p.Tyr815IlefsTer3
ENST00000406134.5:c.2443del	ENSP00000384199.1:p.Tyr815IlefsTer3
ENST00000543555.5:c.2245del	ENSP00000442697.1:p.Tyr749IlefsTer3
ENST00000610696.4:c.*839del	ENSP00000483159.1:n.*839del
ENST00000613514.4:c.*983del	ENSP00000484137.1:n.*983del
ENST00000617333.3:c.*1209del	ENSP00000482468.1:n.*1209del
ENST00000617938.4:c.*1415del	ENSP00000481158.1:n.*1415del
ENST00000621359.2:c.*9del	ENSP00000481416.1:n.*9del
NM_000251.2:c.2443del , LRG_218t1:c.2443del	NP_000242.1:p.Tyr815IlefsTer3
NM_001258281.1:c.2245del	NP_001245210.1:p.Tyr749IlefsTer3
XM_005264332.2:c.2443del	XP_005264389.2:p.Tyr815IlefsTer3
XM_011532867.1:c.2443del	XP_011531169.1:p.Tyr815IlefsTer3
XR_939685.1:n.2515del
XM_005264332.4:c.2443del	XP_005264389.2:p.Tyr815IlefsTer3
XM_011532867.2:c.2443del	XP_011531169.1:p.Tyr815IlefsTer3
XR_001738747.2:n.2505del
XR_939685.2:n.2505del
NM_000251.3:c.2443del MANE Select	NP_000242.1:p.Tyr815IlefsTer3