LDH info

Canonical Allele Identifier: CA252249
Gene: HFE2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2365
dbSNP Id: rs74315323

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146018399C>A , CM000663.2:g.146018399C>A GRCh38
NC_000001.10:g.145416614G>T , CM000663.1:g.145416614G>T GRCh37
NC_000001.9:g.144127971G>T NCBI36
NG_011568.1:g.8424G>T

Transcript Alleles

HGVS Amino-acid change
NM_001316767.1:c.281G>T VV NP_001303696.1:p.Gly94Val
NM_145277.4:c.620G>T VV NP_660320.3:p.Gly207Val
NM_202004.3:c.281G>T VV NP_973733.1:p.Gly94Val
NM_213652.3:c.281G>T VV NP_998817.1:p.Gly94Val
NM_213653.3:c.959G>T VV NP_998818.1:p.Gly320Val
XM_005272932.1:c.959G>T XP_005272989.1:p.Gly320Val
NM_001316767.2:c.281G>T VV NP_001303696.1:p.Gly94Val
NM_145277.5:c.620G>T VV NP_660320.3:p.Gly207Val
NM_202004.4:c.281G>T VV NP_973733.1:p.Gly94Val
NM_213652.4:c.281G>T VV NP_998817.1:p.Gly94Val
ENST00000336751.10:c.959G>T ENSP00000337014.5:p.Gly320Val
ENST00000357836.5:c.620G>T ENSP00000350495.5:p.Gly207Val
ENST00000475797.1:c.281G>T ENSP00000425716.1:p.Gly94Val
ENST00000497365.5:c.281G>T ENSP00000421820.1:p.Gly94Val