LDH info

Canonical Allele Identifier: CA351370
Gene: CASQ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 222522
ClinVar RCV Id: RCV000208054
dbSNP Id: rs763955301

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732964del , CM000663.2:g.115732964del GRCh38
NC_000001.10:g.116275585del , CM000663.1:g.116275585del GRCh37
NC_000001.9:g.116077108del NCBI36
NG_008802.1:g.40845del , LRG_404:g.40845del

Transcript Alleles

HGVS Amino-acid change
NM_001232.3:c.546del , LRG_404t1:c.546del NP_001223.2:p.Phe182LeufsTer28
ENST00000261448.5:c.546del ENSP00000261448.5:p.Phe182LeufsTer28