LDH info

Canonical Allele Identifier: CA301900
Gene: CASQ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 190743
ClinVar RCV Id: RCV000170889
dbSNP Id: rs786205791

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732900C>G , CM000663.2:g.115732900C>G GRCh38
NC_000001.10:g.116275521C>G , CM000663.1:g.116275521C>G GRCh37
NC_000001.9:g.116077044C>G NCBI36
NG_008802.1:g.40906G>C , LRG_404:g.40906G>C

Transcript Alleles

HGVS Amino-acid change
NM_001232.3:c.606+1G>C , LRG_404t1:c.606+1G>C NP_001223.2:p.=
ENST00000261448.5:c.606+1G>C ENSP00000261448.5:p.=
ENST00000488931.1:n.27+1G>C