Canonical Allele Identifier: CA2221754
Gene: D2HGDH HGNC NCBI

Linked Data

ClinVar Variation Id: 434886
dbSNP Id: rs147210645

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241744744C>A , CM000664.2:g.241744744C>A GRCh38
NC_000002.11:g.242684159C>A , CM000664.1:g.242684159C>A GRCh37
NC_000002.10:g.242332832C>A NCBI36
NG_012012.1:g.15130C>A

Transcript Alleles

HGVS Amino-acid change
ENST00000321264.9:c.720C>A MANE Select ENSP00000315351.4:p.Thr240=
ENST00000321264.8:c.720C>A ENSP00000315351.4:p.Thr240=
ENST00000400769.6:c.720C>A ENSP00000383580.2:p.Thr240=
ENST00000403782.5:c.318C>A ENSP00000384723.1:p.Thr106=
ENST00000417686.1:c.244C>A
ENST00000436747.5:c.703C>A ENSP00000400212.1:p.Leu235Ile
ENST00000437164.1:c.142+2170C>A ENSP00000412511.1:n.142+2170C>A
ENST00000454048.1:c.100+2170C>A ENSP00000404596.1:n.100+2170C>A
NM_001287249.1:c.318C>A NP_001274178.1:p.Thr106=
NM_152783.4:c.720C>A NP_689996.4:p.Thr240=
NR_109778.1:n.929C>A
XM_011511734.1:c.720C>A XP_011510036.1:p.Thr240=
XM_011511735.1:c.720C>A XP_011510037.1:p.Thr240=
XM_011511736.1:c.720C>A XP_011510038.1:p.Thr240=
XM_011511737.1:c.720C>A XP_011510039.1:p.Thr240=
XM_011511738.1:c.720C>A XP_011510040.1:p.Thr240=
XM_011511739.1:c.720C>A XP_011510041.1:p.Thr240=
XM_011511740.1:c.720C>A XP_011510042.1:p.Thr240=
XM_011511741.1:c.720C>A XP_011510043.1:p.Thr240=
XM_011511742.1:c.720C>A XP_011510044.1:p.Thr240=
XM_011511743.1:c.720C>A XP_011510045.1:p.Thr240=
XM_011511744.1:c.720C>A XP_011510046.1:p.Thr240=
XM_011511745.1:c.720C>A XP_011510047.1:p.Thr240=
XM_011511746.1:c.720C>A XP_011510048.1:p.Thr240=
XM_011511747.1:c.720C>A XP_011510049.1:p.Thr240=
XM_011511748.1:c.720C>A XP_011510050.1:p.Thr240=
XM_011511749.1:c.720C>A XP_011510051.1:p.Thr240=
XM_011511750.1:c.720C>A XP_011510052.1:p.Thr240=
XM_011511751.1:c.720C>A XP_011510053.1:p.Thr240=
XM_011511752.1:c.720C>A XP_011510054.1:p.Thr240=
XM_011511753.1:c.720C>A XP_011510055.1:p.Thr240=
XM_011511754.1:c.159C>A XP_011510056.1:p.Thr53=
XM_011511755.1:c.245+66C>A XP_011510057.1:n.245+66C>A
XM_011511756.1:c.720C>A XP_011510058.1:p.Thr240=
XM_011511757.1:c.720C>A XP_011510059.1:p.Thr240=
XM_011511758.1:c.720C>A XP_011510060.1:p.Thr240=
XM_011511759.1:c.720C>A XP_011510061.1:p.Thr240=
XM_011511760.1:c.720C>A XP_011510062.1:p.Thr240=
XR_241434.3:n.880C>A
XR_923003.1:n.880C>A
XR_923004.1:n.880C>A
XR_923005.1:n.880C>A
XR_923006.1:n.880C>A
XR_923007.1:n.880C>A
XR_923008.1:n.880C>A
XR_923009.1:n.880C>A
XR_923010.1:n.880C>A
XR_923011.1:n.880C>A
XR_923012.1:n.880C>A
XR_923013.1:n.880C>A
XR_923014.1:n.880C>A
XR_923015.1:n.880C>A
XR_923016.1:n.880C>A
NM_001352824.1:c.159C>A NP_001339753.1:p.Thr53=
XM_011511734.2:c.720C>A XP_011510036.1:p.Thr240=
XM_011511735.2:c.720C>A XP_011510037.1:p.Thr240=
XM_011511736.2:c.720C>A XP_011510038.1:p.Thr240=
XM_011511737.3:c.720C>A XP_011510039.1:p.Thr240=
XM_011511738.3:c.720C>A XP_011510040.1:p.Thr240=
XM_011511739.2:c.720C>A XP_011510041.1:p.Thr240=
XM_011511740.3:c.720C>A XP_011510042.1:p.Thr240=
XM_011511741.3:c.720C>A XP_011510043.1:p.Thr240=
XM_011511743.2:c.720C>A XP_011510045.1:p.Thr240=
XM_011511744.2:c.720C>A XP_011510046.1:p.Thr240=
XM_011511745.3:c.720C>A XP_011510047.1:p.Thr240=
XM_011511746.3:c.720C>A XP_011510048.1:p.Thr240=
XM_011511747.3:c.720C>A XP_011510049.1:p.Thr240=
XM_011511749.3:c.720C>A XP_011510051.1:p.Thr240=
XM_011511750.3:c.720C>A XP_011510052.1:p.Thr240=
XM_011511751.2:c.720C>A XP_011510053.1:p.Thr240=
XM_011511752.2:c.720C>A XP_011510054.1:p.Thr240=
XM_011511753.3:c.720C>A XP_011510055.1:p.Thr240=
XM_011511756.2:c.720C>A XP_011510058.1:p.Thr240=
XM_011511757.3:c.720C>A XP_011510059.1:p.Thr240=
XM_011511758.3:c.720C>A XP_011510060.1:p.Thr240=
XM_011511759.3:c.720C>A XP_011510061.1:p.Thr240=
XM_011511760.3:c.720C>A XP_011510062.1:p.Thr240=
XM_017004827.2:c.720C>A XP_016860316.1:p.Thr240=
XM_017004828.2:c.720C>A XP_016860317.1:p.Thr240=
XM_017004829.2:c.720C>A XP_016860318.1:p.Thr240=
XM_017004830.2:c.720C>A XP_016860319.1:p.Thr240=
XM_017004832.2:c.720C>A XP_016860321.1:p.Thr240=
XM_024453102.1:c.492C>A XP_024308870.1:p.Thr164=
XM_024453103.1:c.720C>A XP_024308871.1:p.Thr240=
XR_001738918.2:n.879C>A
XR_001738919.2:n.879C>A
XR_002959334.1:n.879C>A
XR_002959335.1:n.879C>A
XR_241434.4:n.879C>A
XR_923004.3:n.879C>A
XR_923005.2:n.879C>A
XR_923007.3:n.879C>A
XR_923009.2:n.879C>A
XR_923010.2:n.879C>A
XR_923011.3:n.879C>A
XR_923012.2:n.879C>A
XR_923013.2:n.879C>A
XR_923014.3:n.879C>A
XR_923015.2:n.879C>A
XR_923016.3:n.879C>A
NM_152783.5:c.720C>A MANE Select NP_689996.4:p.Thr240=
NM_001287249.2:c.318C>A NP_001274178.1:p.Thr106=
NM_001352824.2:c.159C>A NP_001339753.1:p.Thr53=
NR_109778.2:n.878C>A