Canonical Allele Identifier: CA432092519

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690662G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751247G>A , CM000664.2:g.241751247G>A	GRCh38
NC_000002.11:g.242690662G>A , CM000664.1:g.242690662G>A	GRCh37
NC_000002.10:g.242339335G>A	NCBI36
NG_012012.1:g.21633G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.999G>A MANE Select	ENSP00000315351.4:p.Glu333=
ENST00000321264.8:c.999G>A	ENSP00000315351.4:p.Glu333=
ENST00000400769.6:c.854-4602G>A	ENSP00000383580.2:n.854-4602G>A
ENST00000403782.5:c.597G>A	ENSP00000384723.1:p.Glu199=
ENST00000432449.1:c.259G>A
ENST00000436747.5:c.*1315G>A	ENSP00000400212.1:n.*1315G>A
ENST00000454048.1:c.102G>A	ENSP00000404596.1:p.Glu34=
ENST00000467427.5:n.389+953G>A
ENST00000470343.5:n.480G>A
ENST00000473126.1:n.198G>A
ENST00000486953.5:n.163+953G>A
ENST00000496252.5:n.354G>A
NM_001287249.1:c.597G>A	NP_001274178.1:p.Glu199=
NM_152783.4:c.999G>A	NP_689996.4:p.Glu333=
NR_109778.1:n.1063-4602G>A
XM_011511734.1:c.1077G>A	XP_011510036.1:p.Glu359=
XM_011511735.1:c.1077G>A	XP_011510037.1:p.Glu359=
XM_011511736.1:c.999G>A	XP_011510038.1:p.Glu333=
XM_011511737.1:c.1077G>A	XP_011510039.1:p.Glu359=
XM_011511742.1:c.1214G>A	XP_011510044.1:p.Arg405Lys
XM_011511743.1:c.1214G>A	XP_011510045.1:p.Arg405Lys
XM_011511744.1:c.1214G>A	XP_011510046.1:p.Arg405Lys
XM_011511745.1:c.1077G>A	XP_011510047.1:p.Glu359=
XM_011511748.1:c.1148G>A	XP_011510050.1:p.Arg383Lys
XM_011511749.1:c.1179+953G>A	XP_011510051.1:n.1179+953G>A
XM_011511750.1:c.1077G>A	XP_011510052.1:p.Glu359=
XM_011511751.1:c.1212+668G>A	XP_011510053.1:n.1212+668G>A
XM_011511753.1:c.1075+953G>A	XP_011510055.1:n.1075+953G>A
XM_011511754.1:c.516G>A	XP_011510056.1:p.Glu172=
XM_011511755.1:c.507G>A	XP_011510057.1:p.Glu169=
XM_011511756.1:c.853+6370G>A	XP_011510058.1:n.853+6370G>A
XM_011511757.1:c.*15G>A	XP_011510059.1:n.*15G>A
XR_241434.3:n.1338G>A
XR_923003.1:n.1860G>A
XR_923004.1:n.1631G>A
XR_923005.1:n.1374G>A
XR_923006.1:n.1374G>A
XR_923007.1:n.1341G>A
XR_923008.1:n.1237G>A
XR_923009.1:n.1237G>A
XR_923010.1:n.1671G>A
XR_923011.1:n.1442G>A
XR_923012.1:n.1376G>A
XR_923014.1:n.1014-4602G>A
NM_001352824.1:c.438G>A	NP_001339753.1:p.Glu146=
XM_011511734.2:c.1077G>A	XP_011510036.1:p.Glu359=
XM_011511735.2:c.1077G>A	XP_011510037.1:p.Glu359=
XM_011511736.2:c.999G>A	XP_011510038.1:p.Glu333=
XM_011511737.3:c.1077G>A	XP_011510039.1:p.Glu359=
XM_011511743.2:c.1214G>A	XP_011510045.1:p.Arg405Lys
XM_011511744.2:c.1214G>A	XP_011510046.1:p.Arg405Lys
XM_011511745.3:c.1077G>A	XP_011510047.1:p.Glu359=
XM_011511749.3:c.1179+953G>A	XP_011510051.1:n.1179+953G>A
XM_011511750.3:c.1077G>A	XP_011510052.1:p.Glu359=
XM_011511751.2:c.1212+668G>A	XP_011510053.1:n.1212+668G>A
XM_011511753.3:c.1075+953G>A	XP_011510055.1:n.1075+953G>A
XM_011511756.2:c.853+6370G>A	XP_011510058.1:n.853+6370G>A
XM_011511757.3:c.*15G>A	XP_011510059.1:n.*15G>A
XM_017004828.2:c.999G>A	XP_016860317.1:p.Glu333=
XM_017004829.2:c.1214G>A	XP_016860318.1:p.Arg405Lys
XM_017004830.2:c.1077G>A	XP_016860319.1:p.Glu359=
XM_024453102.1:c.849G>A	XP_024308870.1:p.Glu283=
XR_001738918.2:n.1373G>A
XR_001738919.2:n.1307G>A
XR_002959334.1:n.1859G>A
XR_002959335.1:n.1503G>A
XR_241434.4:n.1337G>A
XR_923004.3:n.1630G>A
XR_923005.2:n.1373G>A
XR_923007.3:n.1340G>A
XR_923009.2:n.1236G>A
XR_923010.2:n.1670G>A
XR_923011.3:n.1441G>A
XR_923012.2:n.1375G>A
XR_923014.3:n.1013-4602G>A
NM_152783.5:c.999G>A MANE Select	NP_689996.4:p.Glu333=
NM_001287249.2:c.597G>A	NP_001274178.1:p.Glu199=
NM_001352824.2:c.438G>A	NP_001339753.1:p.Glu146=
NR_109778.2:n.1012-4602G>A