Canonical Allele Identifier: CA1339776276
Gene: D2HGDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241751347G= , CM000664.2:g.241751347G= GRCh38
NC_000002.11:g.242690762G= , CM000664.1:g.242690762G= GRCh37
NC_000002.10:g.242339435G= NCBI36
NG_012012.1:g.21733G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000321264.9:c.1099G= MANE Select ENSP00000315351.4:p.Val367=
ENST00000321264.8:c.1099G= ENSP00000315351.4:p.Val367=
ENST00000400769.6:c.854-4502G= ENSP00000383580.2:n.854-4502G=
ENST00000403782.5:c.697G= ENSP00000384723.1:p.Val233=
ENST00000432449.1:c.359G=
ENST00000436747.5:c.*1415G= ENSP00000400212.1:n.*1415G=
ENST00000454048.1:c.202G= ENSP00000404596.1:p.Val68=
ENST00000467427.5:n.389+1053G=
ENST00000470343.5:n.580G=
ENST00000473126.1:n.298G=
ENST00000486953.5:n.163+1053G=
ENST00000496252.5:n.454G=
NM_001287249.1:c.697G= NP_001274178.1:p.Val233=
NM_152783.4:c.1099G= NP_689996.4:p.Val367=
NR_109778.1:n.1063-4502G=
XM_011511734.1:c.1177G= XP_011510036.1:p.Val393=
XM_011511735.1:c.1177G= XP_011510037.1:p.Val393=
XM_011511736.1:c.1099G= XP_011510038.1:p.Val367=
XM_011511737.1:c.1177G= XP_011510039.1:p.Val393=
XM_011511742.1:c.1314G= XP_011510044.1:p.Trp438=
XM_011511743.1:c.1314G= XP_011510045.1:p.Trp438=
XM_011511744.1:c.1314G= XP_011510046.1:p.Trp438=
XM_011511745.1:c.1177G= XP_011510047.1:p.Val393=
XM_011511748.1:c.1248G= XP_011510050.1:p.Trp416=
XM_011511749.1:c.1179+1053G= XP_011510051.1:n.1179+1053G=
XM_011511750.1:c.1177G= XP_011510052.1:p.Val393=
XM_011511751.1:c.1212+768G= XP_011510053.1:n.1212+768G=
XM_011511753.1:c.1075+1053G= XP_011510055.1:n.1075+1053G=
XM_011511754.1:c.616G= XP_011510056.1:p.Val206=
XM_011511755.1:c.607G= XP_011510057.1:p.Val203=
XM_011511756.1:c.853+6470G= XP_011510058.1:n.853+6470G=
XR_241434.3:n.1438G=
XR_923003.1:n.1960G=
XR_923004.1:n.1731G=
XR_923005.1:n.1474G=
XR_923006.1:n.1474G=
XR_923007.1:n.1441G=
XR_923008.1:n.1337G=
XR_923009.1:n.1337G=
XR_923010.1:n.1771G=
XR_923011.1:n.1542G=
XR_923012.1:n.1476G=
XR_923014.1:n.1014-4502G=
NM_001352824.1:c.538G= NP_001339753.1:p.Val180=
XM_011511734.2:c.1177G= XP_011510036.1:p.Val393=
XM_011511735.2:c.1177G= XP_011510037.1:p.Val393=
XM_011511736.2:c.1099G= XP_011510038.1:p.Val367=
XM_011511737.3:c.1177G= XP_011510039.1:p.Val393=
XM_011511743.2:c.1314G= XP_011510045.1:p.Trp438=
XM_011511744.2:c.1314G= XP_011510046.1:p.Trp438=
XM_011511745.3:c.1177G= XP_011510047.1:p.Val393=
XM_011511749.3:c.1179+1053G= XP_011510051.1:n.1179+1053G=
XM_011511750.3:c.1177G= XP_011510052.1:p.Val393=
XM_011511751.2:c.1212+768G= XP_011510053.1:n.1212+768G=
XM_011511753.3:c.1075+1053G= XP_011510055.1:n.1075+1053G=
XM_011511756.2:c.853+6470G= XP_011510058.1:n.853+6470G=
XM_017004828.2:c.1099G= XP_016860317.1:p.Val367=
XM_017004829.2:c.1314G= XP_016860318.1:p.Trp438=
XM_017004830.2:c.1177G= XP_016860319.1:p.Val393=
XM_024453102.1:c.949G= XP_024308870.1:p.Val317=
XR_001738918.2:n.1473G=
XR_001738919.2:n.1407G=
XR_002959334.1:n.1959G=
XR_002959335.1:n.1603G=
XR_241434.4:n.1437G=
XR_923004.3:n.1730G=
XR_923005.2:n.1473G=
XR_923007.3:n.1440G=
XR_923009.2:n.1336G=
XR_923010.2:n.1770G=
XR_923011.3:n.1541G=
XR_923012.2:n.1475G=
XR_923014.3:n.1013-4502G=
NM_152783.5:c.1099G= MANE Select NP_689996.4:p.Val367=
NM_001287249.2:c.697G= NP_001274178.1:p.Val233=
NM_001352824.2:c.538G= NP_001339753.1:p.Val180=
NR_109778.2:n.1012-4502G=