LDH info

Canonical Allele Identifier: CA124562
Gene: HBG2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 14994
dbSNP Id: rs104894225

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000011.10:g.5254380A>G , CM000673.2:g.5254380A>G GRCh38
NC_000011.9:g.5275610A>G , CM000673.1:g.5275610A>G GRCh37
NC_000011.8:g.5232186A>G NCBI36
NG_000007.3:g.43236T>C

Transcript Alleles

HGVS Amino-acid change
NM_000184.2:c.227T>C VV NP_000175.1:p.Ile76Thr
NM_000184.3:c.227T>C VV MANE Preferred NP_000175.1:p.Ile76Thr
ENST00000336906.4:c.227T>C ENSP00000338082.4:p.Ile76Thr
ENST00000380252.5:c.197T>C ENSP00000369602.1:p.Ile66Thr
ENST00000380259.6:c.227T>C ENSP00000369609.2:p.Ile76Thr
ENST00000444587.1:c.*96T>C ENSP00000488218.1:p.=
ENST00000620888.4:c.227T>C ENSP00000479637.1:p.Ile76Thr
ENST00000624109.1:n.128A>G ENSP00000485458.1:p.Tyr43Cys