Canonical Allele Identifier: CA1339784251
Gene: D2HGDH HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241767654G= , CM000664.2:g.241767654G= GRCh38
NC_000002.11:g.242707069G= , CM000664.1:g.242707069G= GRCh37
NC_000002.10:g.242355742G= NCBI36
NG_012012.1:g.38040G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000321264.9:c.1307-56G= MANE Select ENSP00000315351.4:n.1307-56G=
ENST00000321264.8:c.1307-56G= ENSP00000315351.4:n.1307-56G=
ENST00000400769.6:c.*57-56G= ENSP00000383580.2:n.*57-56G=
ENST00000403782.5:c.905-56G= ENSP00000384723.1:n.905-56G=
ENST00000436747.5:c.*2543-56G= ENSP00000400212.1:n.*2543-56G=
ENST00000445308.1:c.703-56G=
ENST00000468064.5:n.1197-56G=
ENST00000470343.5:n.788-56G=
ENST00000473126.1:n.506-56G=
ENST00000486953.5:n.1134-59G=
ENST00000610344.1:c.*151-56G= ENSP00000481906.1:n.*151-56G=
NM_001287249.1:c.905-56G= NP_001274178.1:n.905-56G=
NM_152783.4:c.1307-56G= NP_689996.4:n.1307-56G=
NR_109778.1:n.1229-56G=
XM_011511734.1:c.1427-56G= XP_011510036.1:n.1427-56G=
XM_011511735.1:c.1385-56G= XP_011510037.1:n.1385-56G=
XM_011511736.1:c.1349-56G= XP_011510038.1:n.1349-56G=
XM_011511744.1:c.*39-56G= XP_011510046.1:n.*39-56G=
XM_011511750.1:c.1219-56G= XP_011510052.1:n.1219-56G=
XM_011511754.1:c.866-56G= XP_011510056.1:n.866-56G=
XM_011511755.1:c.857-56G= XP_011510057.1:n.857-56G=
XM_011511756.1:c.854-56G= XP_011510058.1:n.854-56G=
XR_923004.1:n.1939-56G=
XR_923007.1:n.1649-56G=
XR_923011.1:n.1750-56G=
NM_001352824.1:c.746-56G= NP_001339753.1:n.746-56G=
XM_011511734.2:c.1427-56G= XP_011510036.1:n.1427-56G=
XM_011511735.2:c.1385-56G= XP_011510037.1:n.1385-56G=
XM_011511736.2:c.1349-56G= XP_011510038.1:n.1349-56G=
XM_011511744.2:c.*39-56G= XP_011510046.1:n.*39-56G=
XM_011511750.3:c.1219-56G= XP_011510052.1:n.1219-56G=
XM_011511756.2:c.854-56G= XP_011510058.1:n.854-56G=
XM_024453102.1:c.1199-56G= XP_024308870.1:n.1199-56G=
XR_001738918.2:n.1681-56G=
XR_001738919.2:n.1615-56G=
XR_923004.3:n.1938-56G=
XR_923007.3:n.1648-56G=
XR_923011.3:n.1749-56G=
NM_152783.5:c.1307-56G= MANE Select NP_689996.4:n.1307-56G=
NM_001287249.2:c.905-56G= NP_001274178.1:n.905-56G=
NM_001352824.2:c.746-56G= NP_001339753.1:n.746-56G=
NR_109778.2:n.1178-56G=