LDH info

Canonical Allele Identifier: CA117941
Gene: MOCS2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 6109
ClinVar RCV Id: RCV000006483
dbSNP Id: rs121908605

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.53098667C>T , CM000667.2:g.53098667C>T GRCh38
NC_000005.9:g.52394497C>T , CM000667.1:g.52394497C>T GRCh37
NC_000005.8:g.52430254C>T NCBI36
NG_008435.2:g.16102G>A

Transcript Alleles

HGVS Amino-acid change
NM_004531.4:c.502G>A VV NP_004522.1:p.Glu168Lys
NM_176806.3:c.*422G>A VV NP_789776.1:p.=
NM_004531.5:c.502G>A VV MANE Preferred NP_004522.1:p.Glu168Lys
ENST00000361377.8:c.*271G>A ENSP00000355160.4:p.=
ENST00000396954.7:c.502G>A ENSP00000380157.3:p.Glu168Lys
ENST00000450852.7:c.*422G>A ENSP00000411022.3:p.=
ENST00000502402.5:n.2249G>A
ENST00000508922.5:c.*342G>A ENSP00000426274.1:p.=
ENST00000510818.6:c.*375G>A ENSP00000424267.2:p.=
ENST00000582677.5:c.*143G>A ENSP00000462870.1:p.=
ENST00000584946.5:c.*294G>A ENSP00000464663.1:p.=