LDH info

Canonical Allele Identifier: CA301894
Gene: CASQ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 190741
ClinVar RCV Id: RCV000170887
dbSNP Id: rs148057999

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115738253A>G , CM000663.2:g.115738253A>G GRCh38
NC_000001.10:g.116280874A>G , CM000663.1:g.116280874A>G GRCh37
NC_000001.9:g.116082397A>G NCBI36
NG_008802.1:g.35553T>C , LRG_404:g.35553T>C

Transcript Alleles

HGVS Amino-acid change
NM_001232.3:c.503T>C , LRG_404t1:c.503T>C NP_001223.2:p.Ile168Thr
ENST00000261448.5:c.503T>C ENSP00000261448.5:p.Ile168Thr