LDH info

Canonical Allele Identifier: CA252256
Gene: HFE2 HGNC NCBI

Identifiers and link-outs to other resources

ClinVar Variation Id: 2370
ClinVar RCV Id: RCV000002467
dbSNP Id: rs74315327

User contributed link-outs

Genomic Alleles

HGVS Genome Assembly
NC_000001.11:g.146019530A>G , CM000663.2:g.146019530A>G GRCh38
NC_000001.10:g.145415483T>C , CM000663.1:g.145415483T>C GRCh37
NC_000001.9:g.144126840T>C NCBI36
NG_011568.1:g.7293T>C

Transcript Alleles

HGVS Amino-acid change
NM_001316767.1:c.-22+168T>C VV NP_001303696.1:p.=
NM_145277.4:c.-38T>C VV NP_660320.3:p.=
NM_202004.3:c.-22+168T>C VV NP_973733.1:p.=
NM_213652.3:c.-21-830T>C VV NP_998817.1:p.=
NM_213653.3:c.302T>C VV NP_998818.1:p.Leu101Pro
XM_005272932.1:c.302T>C XP_005272989.1:p.Leu101Pro
NM_001316767.2:c.-22+168T>C VV NP_001303696.1:p.=
NM_145277.5:c.-38T>C VV NP_660320.3:p.=
NM_202004.4:c.-22+168T>C VV NP_973733.1:p.=
NM_213652.4:c.-21-830T>C VV NP_998817.1:p.=
ENST00000336751.10:c.302T>C ENSP00000337014.5:p.Leu101Pro
ENST00000357836.5:c.-38T>C ENSP00000350495.5:p.=
ENST00000475797.1:c.-21-830T>C ENSP00000425716.1:p.=
ENST00000497365.5:c.-22+168T>C ENSP00000421820.1:p.=
ENST00000634927.1:c.134+168T>C ENSP00000489347.1:p.=