LDH info

Canonical Allele Identifier: CA16041007
Gene: ADAMTS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 371445
ClinVar RCV Id: RCV000411325
dbSNP Id: rs1057517277

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179128119_179128125del , CM000667.2:g.179128119_179128125del GRCh38
NC_000005.9:g.178555120_178555126del , CM000667.1:g.178555120_178555126del GRCh37
NC_000005.8:g.178487726_178487732del NCBI36
NG_023212.2:g.222205_222211del
NG_023212.3:g.222205_222211del

Transcript Alleles

HGVS Amino-acid change
NM_014244.4:c.2458-6_2458del VV
NM_014244.5:c.2458-6_2458del VV MANE Preferred
ENST00000251582.11:c.2458-6_2458del