Canonical Allele Identifier: CA207099
Gene: D2HGDH HGNC NCBI

Linked Data

ClinVar Variation Id: 210810
dbSNP Id: rs139321130

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241751311G>A , CM000664.2:g.241751311G>A GRCh38
NC_000002.11:g.242690726G>A , CM000664.1:g.242690726G>A GRCh37
NC_000002.10:g.242339399G>A NCBI36
NG_012012.1:g.21697G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000321264.9:c.1063G>A MANE Select ENSP00000315351.4:p.Gly355Ser
ENST00000321264.8:c.1063G>A ENSP00000315351.4:p.Gly355Ser
ENST00000400769.6:c.854-4538G>A ENSP00000383580.2:p.=
ENST00000403782.5:c.661G>A ENSP00000384723.1:p.Gly221Ser
ENST00000432449.1:n.323G>A
ENST00000436747.5:c.*1379G>A ENSP00000400212.1:p.=
ENST00000454048.1:n.166G>A ENSP00000404596.1:p.Gly56Ser
ENST00000467427.5:n.389+1017G>A
ENST00000470343.5:n.544G>A
ENST00000473126.1:n.262G>A
ENST00000486953.5:n.163+1017G>A
ENST00000496252.5:n.418G>A
NM_001287249.1:c.661G>A NP_001274178.1:p.Gly221Ser
NM_152783.4:c.1063G>A NP_689996.4:p.Gly355Ser
NR_109778.1:n.1063-4538G>A
XM_011511734.1:c.1141G>A XP_011510036.1:p.Gly381Ser
XM_011511735.1:c.1141G>A XP_011510037.1:p.Gly381Ser
XM_011511736.1:c.1063G>A XP_011510038.1:p.Gly355Ser
XM_011511737.1:c.1141G>A XP_011510039.1:p.Gly381Ser
XM_011511742.1:c.1278G>A XP_011510044.1:p.Trp426Ter
XM_011511743.1:c.1278G>A XP_011510045.1:p.Trp426Ter
XM_011511744.1:c.1278G>A XP_011510046.1:p.Trp426Ter
XM_011511745.1:c.1141G>A XP_011510047.1:p.Gly381Ser
XM_011511748.1:c.1212G>A XP_011510050.1:p.Trp404Ter
XM_011511749.1:c.1179+1017G>A XP_011510051.1:p.=
XM_011511750.1:c.1141G>A XP_011510052.1:p.Gly381Ser
XM_011511751.1:c.1212+732G>A XP_011510053.1:p.=
XM_011511753.1:c.1075+1017G>A XP_011510055.1:p.=
XM_011511754.1:c.580G>A XP_011510056.1:p.Gly194Ser
XM_011511755.1:c.571G>A XP_011510057.1:p.Gly191Ser
XM_011511756.1:c.853+6434G>A XP_011510058.1:p.=
XM_011511757.1:c.*79G>A XP_011510059.1:p.=
XR_241434.3:n.1402G>A
XR_923003.1:n.1924G>A
XR_923004.1:n.1695G>A
XR_923005.1:n.1438G>A
XR_923006.1:n.1438G>A
XR_923007.1:n.1405G>A
XR_923008.1:n.1301G>A
XR_923009.1:n.1301G>A
XR_923010.1:n.1735G>A
XR_923011.1:n.1506G>A
XR_923012.1:n.1440G>A
XR_923014.1:n.1014-4538G>A
NM_001352824.1:c.502G>A NP_001339753.1:p.Gly168Ser
XM_011511734.2:c.1141G>A XP_011510036.1:p.Gly381Ser
XM_011511735.2:c.1141G>A XP_011510037.1:p.Gly381Ser
XM_011511736.2:c.1063G>A XP_011510038.1:p.Gly355Ser
XM_011511737.3:c.1141G>A XP_011510039.1:p.Gly381Ser
XM_011511743.2:c.1278G>A XP_011510045.1:p.Trp426Ter
XM_011511744.2:c.1278G>A XP_011510046.1:p.Trp426Ter
XM_011511745.3:c.1141G>A XP_011510047.1:p.Gly381Ser
XM_011511749.3:c.1179+1017G>A XP_011510051.1:p.=
XM_011511750.3:c.1141G>A XP_011510052.1:p.Gly381Ser
XM_011511751.2:c.1212+732G>A XP_011510053.1:p.=
XM_011511753.3:c.1075+1017G>A XP_011510055.1:p.=
XM_011511756.2:c.853+6434G>A XP_011510058.1:p.=
XM_017004828.2:c.1063G>A XP_016860317.1:p.Gly355Ser
XM_017004829.2:c.1278G>A XP_016860318.1:p.Trp426Ter
XM_017004830.2:c.1141G>A XP_016860319.1:p.Gly381Ser
XM_024453102.1:c.913G>A XP_024308870.1:p.Gly305Ser
XR_001738918.2:n.1437G>A
XR_001738919.2:n.1371G>A
XR_002959334.1:n.1923G>A
XR_002959335.1:n.1567G>A
XR_241434.4:n.1401G>A
XR_923004.3:n.1694G>A
XR_923005.2:n.1437G>A
XR_923007.3:n.1404G>A
XR_923009.2:n.1300G>A
XR_923010.2:n.1734G>A
XR_923011.3:n.1505G>A
XR_923012.2:n.1439G>A
XR_923014.3:n.1013-4538G>A
NM_152783.5:c.1063G>A MANE Select NP_689996.4:p.Gly355Ser
NM_001287249.2:c.661G>A NP_001274178.1:p.Gly221Ser
NM_001352824.2:c.502G>A NP_001339753.1:p.Gly168Ser
NR_109778.2:n.1012-4538G>A