LDH info

Canonical Allele Identifier: CA16044177
Gene: PIEZO2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 374902
ClinVar RCV Id: RCV000415567
dbSNP Id: rs1057519425

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000018.10:g.10705375del , CM000680.2:g.10705375del GRCh38
NC_000018.9:g.10705373del , CM000680.1:g.10705373del GRCh37
NC_000018.8:g.10695373del NCBI36
NG_034005.1:g.448388del

Transcript Alleles

HGVS Amino-acid change
NM_022068.3:c.5621del VV NP_071351.2:p.Leu1874ArgfsTer5
XM_011525723.1:c.5753del XP_011524025.1:p.Leu1918ArgfsTer5
XM_011525724.1:c.5696del XP_011524026.1:p.Leu1899ArgfsTer5
XM_011525725.1:c.5663del XP_011524027.1:p.Leu1888ArgfsTer5
XM_011525726.1:c.5753del XP_011524028.1:p.Leu1918ArgfsTer5
XM_011525723.3:c.5753del XP_011524025.1:p.Leu1918ArgfsTer5
XM_011525724.3:c.5696del XP_011524026.1:p.Leu1899ArgfsTer5
XM_011525725.3:c.5663del XP_011524027.1:p.Leu1888ArgfsTer5
XM_011525726.3:c.5753del XP_011524028.1:p.Leu1918ArgfsTer5
XM_017025918.2:c.5714del XP_016881407.1:p.Leu1905ArgfsTer5
XR_001753259.2:n.6750del
ENST00000302079.10:n.5621del ENSP00000303316.6:p.Leu1874ArgfsTer5
ENST00000383408.6:c.5474del ENSP00000372900.3:p.Leu1825ArgfsTer5
ENST00000503781.7:n.5621del ENSP00000421377.3:p.Leu1874ArgfsTer5
ENST00000580640.5:n.5696del ENSP00000463094.1:p.Leu1899ArgfsTer5
ENST00000582913.5:n.5827del ENSP00000462115.1:p.=