Canonical Allele Identifier: CA16617544
Gene: MSH2 HGNC NCBI

Linked Data

ClinVar Variation Id: 421632
ClinVar RCV Id: RCV000486490
dbSNP Id: rs1064795264

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403230_47403239del , CM000664.2:g.47403230_47403239del GRCh38
NC_000002.11:g.47630369_47630378del , CM000664.1:g.47630369_47630378del GRCh37
NC_000002.10:g.47483873_47483882del NCBI36
NG_007110.2:g.5107_5116del , LRG_218:g.5107_5116del

Transcript Alleles

HGVS Amino-acid change
ENST00000644900.2:c.39_48del ENSP00000495641.2:p.Ser13ArgfsTer?
ENST00000233146.7:c.39_48del MANE Select ENSP00000233146.2:p.Ser13ArgfsTer?
ENST00000543555.6:c.-31+55_-31+64del ENSP00000442697.1:n.-31+55_-31+64del
ENST00000644092.1:c.39_48del ENSP00000496351.1:p.Ser13ArgfsTer?
ENST00000645339.1:c.39_48del ENSP00000496441.1:p.Ser13ArgfsTer?
ENST00000645506.1:c.39_48del ENSP00000495455.1:p.Ser13ArgfsTer?
ENST00000646415.1:c.39_48del ENSP00000495543.1:p.Ser13ArgfsTer?
ENST00000233146.6:c.39_48del ENSP00000233146.2:p.Ser13ArgfsTer?
ENST00000406134.5:c.39_48del ENSP00000384199.1:p.Ser13ArgfsTer?
ENST00000454849.5:c.-31+55_-31+64del ENSP00000411482.1:n.-31+55_-31+64del
ENST00000543555.5:c.-31+55_-31+64del ENSP00000442697.1:n.-31+55_-31+64del
ENST00000610696.4:c.39_48del ENSP00000483159.1:p.Ser13ArgfsTer?
ENST00000613514.4:c.39_48del ENSP00000484137.1:p.Ser13ArgfsTer?
ENST00000617333.3:c.39_48del ENSP00000482468.1:p.Ser13ArgfsTer?
ENST00000617938.4:c.39_48del ENSP00000481158.1:p.Ser13ArgfsTer?
ENST00000621359.2:c.39_48del ENSP00000481416.1:p.Ser13ArgfsTer?
NM_000251.2:c.39_48del , LRG_218t1:c.39_48del NP_000242.1:p.Ser13ArgfsTer?
NM_001258281.1:c.-31+55_-31+64del NP_001245210.1:n.-31+55_-31+64del
XM_005264332.2:c.39_48del XP_005264389.2:p.Ser13ArgfsTer?
XM_011532867.1:c.39_48del XP_011531169.1:p.Ser13ArgfsTer?
XR_939685.1:n.111_120del
XM_005264332.4:c.39_48del XP_005264389.2:p.Ser13ArgfsTer?
XM_011532867.2:c.39_48del XP_011531169.1:p.Ser13ArgfsTer?
XR_001738747.2:n.101_110del
XR_939685.2:n.101_110del
NM_000251.3:c.39_48del MANE Select NP_000242.1:p.Ser13ArgfsTer?