Canonical Allele Identifier: CA915943847

Gene: MSH2

Linked Data

• ClinVar Variation Id: 650316
• ClinVar RCV Id: RCV000805444 ; RCV002442690 ; RCV003453681
• dbSNP Id: rs1573578423

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.47480711del , CM000664.2:g.47480711del	GRCh38
NC_000002.11:g.47707850del , CM000664.1:g.47707850del	GRCh37
NC_000002.10:g.47561354del	NCBI36
NG_007110.2:g.82588del , LRG_218:g.82588del

Transcript Alleles

HGVS	Amino-acid Change
ENST00000644900.2:c.2474del	ENSP00000495641.2:p.Ser825IlefsTer16
ENST00000233146.7:c.2474del MANE Select	ENSP00000233146.2:p.Ser825IlefsTer16
ENST00000543555.6:c.2276del	ENSP00000442697.1:p.Ser759IlefsTer16
ENST00000644092.1:c.*774del	ENSP00000496351.1:n.*774del
ENST00000644900.1:c.327del
ENST00000645339.1:c.2474del	ENSP00000496441.1:p.Ser825IlefsTer16
ENST00000645506.1:c.2474del	ENSP00000495455.1:p.Ser825IlefsTer16
ENST00000646415.1:c.2474del	ENSP00000495543.1:p.Ser825IlefsTer16
ENST00000233146.6:c.2474del	ENSP00000233146.2:p.Ser825IlefsTer16
ENST00000406134.5:c.2474del	ENSP00000384199.1:p.Ser825IlefsTer16
ENST00000543555.5:c.2276del	ENSP00000442697.1:p.Ser759IlefsTer16
ENST00000610696.4:c.*870del	ENSP00000483159.1:n.*870del
ENST00000613514.4:c.*1014del	ENSP00000484137.1:n.*1014del
ENST00000617333.3:c.*1240del	ENSP00000482468.1:n.*1240del
ENST00000617938.4:c.*1446del	ENSP00000481158.1:n.*1446del
ENST00000621359.2:c.*40del	ENSP00000481416.1:n.*40del
NM_000251.2:c.2474del , LRG_218t1:c.2474del	NP_000242.1:p.Ser825IlefsTer16
NM_001258281.1:c.2276del	NP_001245210.1:p.Ser759IlefsTer16
XM_005264332.2:c.2474del	XP_005264389.2:p.Ser825IlefsTer16
XM_011532867.1:c.2474del	XP_011531169.1:p.Ser825IlefsTer16
XR_939685.1:n.2546del
XM_005264332.4:c.2474del	XP_005264389.2:p.Ser825IlefsTer16
XM_011532867.2:c.2474del	XP_011531169.1:p.Ser825IlefsTer16
XR_001738747.2:n.2536del
XR_939685.2:n.2536del
NM_000251.3:c.2474del MANE Select	NP_000242.1:p.Ser825IlefsTer16