Canonical Allele Identifier: CA10602868
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 280399
dbSNP Id: rs886041613

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47480866del , CM000664.2:g.47480866del GRCh38
NC_000002.11:g.47708005del , CM000664.1:g.47708005del GRCh37
NC_000002.10:g.47561509del NCBI36
NG_007110.2:g.82743del , LRG_218:g.82743del

Transcript Alleles

HGVS Amino-acid Change
ENST00000644900.2:c.2629del ENSP00000495641.2:p.Arg877GlufsTer4
ENST00000233146.7:c.2629del MANE Select ENSP00000233146.2:p.Arg877GlufsTer15
ENST00000543555.6:c.2431del ENSP00000442697.1:p.Arg811GlufsTer15
ENST00000644092.1:c.*929del ENSP00000496351.1:n.*929del
ENST00000644900.1:c.482del
ENST00000645339.1:c.2629del ENSP00000496441.1:p.Arg877GlufsTer6
ENST00000645506.1:c.2629del ENSP00000495455.1:p.Arg877GlufsTer6
ENST00000646415.1:c.2629del ENSP00000495543.1:p.Arg877GlufsTer6
ENST00000233146.6:c.2629del ENSP00000233146.2:p.Arg877GlufsTer15
ENST00000406134.5:c.2629del ENSP00000384199.1:p.Arg877GlufsTer6
ENST00000461394.5:n.70del
ENST00000543555.5:c.2431del ENSP00000442697.1:p.Arg811GlufsTer15
ENST00000610696.4:c.*1025del ENSP00000483159.1:n.*1025del
ENST00000613514.4:c.*1169del ENSP00000484137.1:n.*1169del
ENST00000617333.3:c.*1395del ENSP00000482468.1:n.*1395del
ENST00000617938.4:c.*1601del ENSP00000481158.1:n.*1601del
ENST00000621359.2:c.*195del ENSP00000481416.1:n.*195del
NM_000251.2:c.2629del , LRG_218t1:c.2629del NP_000242.1:p.Arg877GlufsTer15
NM_001258281.1:c.2431del NP_001245210.1:p.Arg811GlufsTer15
XM_005264332.2:c.2629del XP_005264389.2:p.Arg877GlufsTer6
XM_011532867.1:c.2629del XP_011531169.1:p.Arg877GlufsTer6
XR_939685.1:n.2701del
XM_005264332.4:c.2629del XP_005264389.2:p.Arg877GlufsTer6
XM_011532867.2:c.2629del XP_011531169.1:p.Arg877GlufsTer6
XR_001738747.2:n.2691del
XR_939685.2:n.2691del
NM_000251.3:c.2629del MANE Select NP_000242.1:p.Arg877GlufsTer15