Canonical Allele Identifier: CA913189960

Gene: MSH2

Linked Data

• ClinVar Variation Id: 624133
• ClinVar RCV Id: RCV000762266 ; RCV003453583 ; RCV001869048
• dbSNP Id: rs1558518588

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47475254del , CM000664.2:g.47475254del	GRCh38
NC_000002.11:g.47702393del , CM000664.1:g.47702393del	GRCh37
NC_000002.10:g.47555897del	NCBI36
NG_007110.2:g.77131del , LRG_218:g.77131del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.1989del	ENSP00000495641.2:p.Met663IlefsTer22
ENST00000233146.7:c.1989del MANE Select	ENSP00000233146.2:p.Met663IlefsTer22
ENST00000543555.6:c.1791del	ENSP00000442697.1:p.Met597IlefsTer22
ENST00000644092.1:c.*289del	ENSP00000496351.1:n.*289del
ENST00000645339.1:c.1989del	ENSP00000496441.1:p.Met663IlefsTer22
ENST00000645506.1:c.1989del	ENSP00000495455.1:p.Met663IlefsTer22
ENST00000646415.1:c.1989del	ENSP00000495543.1:p.Met663IlefsTer22
ENST00000233146.6:c.1989del	ENSP00000233146.2:p.Met663IlefsTer22
ENST00000406134.5:c.1989del	ENSP00000384199.1:p.Met663IlefsTer22
ENST00000543555.5:c.1791del	ENSP00000442697.1:p.Met597IlefsTer22
ENST00000610696.4:c.*385del	ENSP00000483159.1:n.*385del
ENST00000613514.4:c.*529del	ENSP00000484137.1:n.*529del
ENST00000617333.3:c.*755del	ENSP00000482468.1:n.*755del
ENST00000617938.4:c.*961del	ENSP00000481158.1:n.*961del
ENST00000621359.2:c.1989del	ENSP00000481416.1:p.Met663IlefsTer22
NM_000251.2:c.1989del , LRG_218t1:c.1989del	NP_000242.1:p.Met663IlefsTer22
NM_001258281.1:c.1791del	NP_001245210.1:p.Met597IlefsTer22
XM_005264332.2:c.1989del	XP_005264389.2:p.Met663IlefsTer22
XM_011532867.1:c.1989del	XP_011531169.1:p.Met663IlefsTer22
XR_939685.1:n.2061del
XM_005264332.4:c.1989del	XP_005264389.2:p.Met663IlefsTer22
XM_011532867.2:c.1989del	XP_011531169.1:p.Met663IlefsTer22
XR_001738747.2:n.2051del
XR_939685.2:n.2051del
NM_000251.3:c.1989del MANE Select	NP_000242.1:p.Met663IlefsTer22