LDH info

Canonical Allele Identifier: CA252252
Gene: HFE2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2367
ClinVar RCV Id: RCV000002464
dbSNP Id: rs74315325

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146018693A>T , CM000663.2:g.146018693A>T GRCh38
NC_000001.10:g.145416320T>A , CM000663.1:g.145416320T>A GRCh37
NC_000001.9:g.144127677T>A NCBI36
NG_011568.1:g.8130T>A

Transcript Alleles

HGVS Amino-acid change
NM_001316767.1:c.-14T>A VV NP_001303696.1:p.=
NM_145277.4:c.326T>A VV NP_660320.3:p.Ile109Asn
NM_202004.3:c.-14T>A VV NP_973733.1:p.=
NM_213652.3:c.-14T>A VV NP_998817.1:p.=
NM_213653.3:c.665T>A VV NP_998818.1:p.Ile222Asn
XM_005272932.1:c.665T>A XP_005272989.1:p.Ile222Asn
NM_001316767.2:c.-14T>A VV NP_001303696.1:p.=
NM_145277.5:c.326T>A VV NP_660320.3:p.Ile109Asn
NM_202004.4:c.-14T>A VV NP_973733.1:p.=
NM_213652.4:c.-14T>A VV NP_998817.1:p.=
ENST00000336751.10:c.665T>A ENSP00000337014.5:p.Ile222Asn
ENST00000357836.5:c.326T>A ENSP00000350495.5:p.Ile109Asn
ENST00000475797.1:c.-14T>A ENSP00000425716.1:p.=
ENST00000497365.5:c.-14T>A ENSP00000421820.1:p.=
ENST00000634927.1:c.142T>A ENSP00000489347.1:p.Ser48Thr