LDH info

Canonical Allele Identifier: CA288138
Gene: XRCC2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 127958
ClinVar RCV Id: RCV000115892
dbSNP Id: rs587780129

Genomic Alleles

HGVS Genome Assembly
NC_000007.14:g.152648941del , CM000669.2:g.152648941del GRCh38
NC_000007.13:g.152346026del , CM000669.1:g.152346026del GRCh37
NC_000007.12:g.151976959del NCBI36
NG_027988.1:g.32226del
NG_027988.2:g.32226del

Transcript Alleles

HGVS Amino-acid change
NM_005431.1:c.545del VV NP_005422.1:p.Lys182SerfsTer3
NM_005431.2:c.545del VV MANE Preferred NP_005422.1:p.Lys182SerfsTer3
ENST00000359321.1:c.545del ENSP00000352271.1:p.Lys182SerfsTer3
ENST00000495707.1:n.567del