LDH info

Canonical Allele Identifier: CA252253
Gene: HFE2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2368
ClinVar RCV Id: RCV000002465
dbSNP Id: rs74315326

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146018516A>G , CM000663.2:g.146018516A>G GRCh38
NC_000001.10:g.145416497T>C , CM000663.1:g.145416497T>C GRCh37
NC_000001.9:g.144127854T>C NCBI36
NG_011568.1:g.8307T>C

Transcript Alleles

HGVS Amino-acid change
NM_001316767.1:c.164T>C VV NP_001303696.1:p.Ile55Thr
NM_145277.4:c.503T>C VV NP_660320.3:p.Ile168Thr
NM_202004.3:c.164T>C VV NP_973733.1:p.Ile55Thr
NM_213652.3:c.164T>C VV NP_998817.1:p.Ile55Thr
NM_213653.3:c.842T>C VV NP_998818.1:p.Ile281Thr
XM_005272932.1:c.842T>C XP_005272989.1:p.Ile281Thr
NM_001316767.2:c.164T>C VV NP_001303696.1:p.Ile55Thr
NM_145277.5:c.503T>C VV NP_660320.3:p.Ile168Thr
NM_202004.4:c.164T>C VV NP_973733.1:p.Ile55Thr
NM_213652.4:c.164T>C VV NP_998817.1:p.Ile55Thr
ENST00000336751.10:c.842T>C ENSP00000337014.5:p.Ile281Thr
ENST00000357836.5:c.503T>C ENSP00000350495.5:p.Ile168Thr
ENST00000475797.1:c.164T>C ENSP00000425716.1:p.Ile55Thr
ENST00000497365.5:c.164T>C ENSP00000421820.1:p.Ile55Thr