LDH info

Canonical Allele Identifier: CA117558
Gene: ADAMTS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 5503
ClinVar RCV Id: RCV000005838
dbSNP Id: rs137853147

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.179130005C>T , CM000667.2:g.179130005C>T GRCh38
NC_000005.9:g.178557006C>T , CM000667.1:g.178557006C>T GRCh37
NC_000005.8:g.178489612C>T NCBI36
NG_023212.2:g.220324G>A
NG_023212.3:g.220324G>A

Transcript Alleles

HGVS Amino-acid change
NM_014244.4:c.2384G>A VV NP_055059.2:p.Trp795Ter
NM_014244.5:c.2384G>A VV MANE Preferred NP_055059.2:p.Trp795Ter
ENST00000251582.11:c.2384G>A ENSP00000251582.7:p.Trp795Ter