LDH info

Canonical Allele Identifier: CA214218
Gene: RAG2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 36719
ClinVar RCV Id: RCV000030398
dbSNP Id: rs193922574
COSMIC: COSM428958

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.36593952G>A , CM000673.2:g.36593952G>A GRCh38
NC_000011.9:g.36615502G>A , CM000673.1:g.36615502G>A GRCh37
NC_000011.8:g.36572078G>A NCBI36
NG_007573.1:g.9285C>T , LRG_99:g.9285C>T
NG_033154.1:g.4460G>A

Transcript Alleles

HGVS Amino-acid change
NM_000536.3:c.217C>T VV NP_000527.2:p.Arg73Cys
NM_001243785.1:c.217C>T VV NP_001230714.1:p.Arg73Cys
NM_001243786.1:c.217C>T VV NP_001230715.1:p.Arg73Cys
NM_000536.4:c.217C>T VV MANE Preferred NP_000527.2:p.Arg73Cys
NM_001243785.2:c.217C>T VV NP_001230714.1:p.Arg73Cys
ENST00000311485.7:c.217C>T ENSP00000308620.3:p.Arg73Cys
ENST00000524423.1:n.131+4150C>T
ENST00000529083.1:c.217C>T ENSP00000436327.1:p.Arg73Cys
ENST00000618712.4:c.217C>T ENSP00000478672.1:p.Arg73Cys