LDH info

Canonical Allele Identifier: CA175364
Gene: CASQ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 162814
dbSNP Id: rs146664754

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732940G>C , CM000663.2:g.115732940G>C GRCh38
NC_000001.10:g.116275561G>C , CM000663.1:g.116275561G>C GRCh37
NC_000001.9:g.116077084G>C NCBI36
NG_008802.1:g.40866C>G , LRG_404:g.40866C>G

Transcript Alleles

HGVS Amino-acid change
NM_001232.3:c.567C>G , LRG_404t1:c.567C>G NP_001223.2:p.Phe189Leu
ENST00000261448.5:c.567C>G ENSP00000261448.5:p.Phe189Leu