LDH info

Canonical Allele Identifier: CA020019
Gene: MSH2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 90886
dbSNP Id: rs267607915

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.47403211del , CM000664.2:g.47403211del GRCh38
NC_000002.11:g.47630350del , CM000664.1:g.47630350del GRCh37
NC_000002.10:g.47483854del NCBI36
NG_007110.2:g.5088del , LRG_218:g.5088del

Transcript Alleles

HGVS Amino-acid change
NM_000251.2:c.20del , LRG_218t1:c.20del NP_000242.1:p.Glu7GlyfsTer?
NM_001258281.1:c.-31+36del VV NP_001245210.1:p.=
XM_005264332.2:c.20del XP_005264389.2:p.Glu7GlyfsTer?
XM_011532867.1:c.20del XP_011531169.1:p.Glu7GlyfsTer?
XR_939685.1:n.92del
XM_005264332.4:c.20del XP_005264389.2:p.Glu7GlyfsTer?
XM_011532867.2:c.20del XP_011531169.1:p.Glu7GlyfsTer?
XR_001738747.2:n.82del
XR_939685.2:n.82del
NM_000251.3:c.20del VV MANE Preferred NP_000242.1:p.Glu7GlyfsTer?
ENST00000233146.6:c.20del ENSP00000233146.2:p.Glu7GlyfsTer?
ENST00000406134.5:c.20del ENSP00000384199.1:p.Glu7GlyfsTer?
ENST00000454849.5:c.-31+36del ENSP00000411482.1:p.=
ENST00000543555.5:c.-31+36del ENSP00000442697.1:p.=
ENST00000610696.4:c.20del ENSP00000483159.1:p.Glu7GlyfsTer?
ENST00000613514.4:c.20del ENSP00000484137.1:p.Glu7GlyfsTer?
ENST00000617333.3:c.20del ENSP00000482468.1:p.Glu7GlyfsTer?
ENST00000617938.4:c.20del ENSP00000481158.1:p.Glu7GlyfsTer?
ENST00000621359.2:c.20del ENSP00000481416.1:p.Glu7GlyfsTer?