LDH info

Canonical Allele Identifier: CA124552
Gene: HBG2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14988
ClinVar RCV Id: RCV000016128
dbSNP Id: rs34807671

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5253282G>A , CM000673.2:g.5253282G>A GRCh38
NC_000011.9:g.5274512G>A , CM000673.1:g.5274512G>A GRCh37
NC_000011.8:g.5231088G>A NCBI36
NG_000007.3:g.44334C>T

Transcript Alleles

HGVS Amino-acid change
NM_000184.2:c.439C>T VV NP_000175.1:p.His147Tyr
NM_000184.3:c.439C>T VV MANE Preferred NP_000175.1:p.His147Tyr
ENST00000336906.4:c.439C>T ENSP00000338082.4:p.His147Tyr
ENST00000380252.5:c.409C>T ENSP00000369602.1:p.His137Tyr
ENST00000380259.6:c.439C>T ENSP00000369609.2:p.His147Tyr
ENST00000620888.4:c.315+1010C>T ENSP00000479637.1:p.=