LDH info

Canonical Allele Identifier: CA252260
Gene: HFE2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2373
ClinVar RCV Id: RCV000002471
dbSNP Id: rs121434375

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146019672T>A , CM000663.2:g.146019672T>A GRCh38
NC_000001.10:g.145415341A>T , CM000663.1:g.145415341A>T GRCh37
NC_000001.9:g.144126698A>T NCBI36
NG_011568.1:g.7151A>T

Transcript Alleles

HGVS Amino-acid change
NM_001316767.1:c.-22+26A>T VV NP_001303696.1:p.=
NM_145277.4:c.-180A>T VV NP_660320.3:p.=
NM_202004.3:c.-22+26A>T VV NP_973733.1:p.=
NM_213652.3:c.-21-972A>T VV NP_998817.1:p.=
NM_213653.3:c.160A>T VV NP_998818.1:p.Arg54Ter
XM_005272932.1:c.160A>T XP_005272989.1:p.Arg54Ter
ENST00000336751.10:c.160A>T ENSP00000337014.5:p.Arg54Ter
ENST00000357836.5:c.-180A>T ENSP00000350495.5:p.=
ENST00000421822.2:c.160A>T ENSP00000411863.2:p.Arg54Ter
ENST00000475797.1:c.-21-972A>T ENSP00000425716.1:p.=
ENST00000497365.5:c.-22+26A>T ENSP00000421820.1:p.=
ENST00000634927.1:c.134+26A>T ENSP00000489347.1:p.=