LDH info

Canonical Allele Identifier: CA261480
Gene: CASQ2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 44169
ClinVar RCV Id: RCV000037145
dbSNP Id: rs397516643

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.115732927_115732929delinsGT , CM000663.2:g.115732927_115732929delinsGT GRCh38
NC_000001.10:g.116275548_116275550delinsGT , CM000663.1:g.116275548_116275550delinsGT GRCh37
NC_000001.9:g.116077071_116077073delinsGT NCBI36
NG_008802.1:g.40877_40879delinsAC , LRG_404:g.40877_40879delinsAC

Transcript Alleles

HGVS Amino-acid change
NM_001232.3:c.578_580delinsAC , LRG_404t1:c.578_580delinsAC NP_001223.2:p.Ile193AsnfsTer17
ENST00000261448.5:c.578_580delinsAC ENSP00000261448.5:p.Ile193AsnfsTer17