Canonical Allele Identifier: CA351408765

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690741C>A (hg19) ; chr2:g.241751326C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751326C>A , CM000664.2:g.241751326C>A	GRCh38
NC_000002.11:g.242690741C>A , CM000664.1:g.242690741C>A	GRCh37
NC_000002.10:g.242339414C>A	NCBI36
NG_012012.1:g.21712C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1078C>A MANE Select	ENSP00000315351.4:p.His360Asn
ENST00000321264.8:c.1078C>A	ENSP00000315351.4:p.His360Asn
ENST00000400769.6:c.854-4523C>A	ENSP00000383580.2:n.854-4523C>A
ENST00000403782.5:c.676C>A	ENSP00000384723.1:p.His226Asn
ENST00000432449.1:c.338C>A
ENST00000436747.5:c.*1394C>A	ENSP00000400212.1:n.*1394C>A
ENST00000454048.1:c.181C>A	ENSP00000404596.1:p.His61Asn
ENST00000467427.5:n.389+1032C>A
ENST00000470343.5:n.559C>A
ENST00000473126.1:n.277C>A
ENST00000486953.5:n.163+1032C>A
ENST00000496252.5:n.433C>A
NM_001287249.1:c.676C>A	NP_001274178.1:p.His226Asn
NM_152783.4:c.1078C>A	NP_689996.4:p.His360Asn
NR_109778.1:n.1063-4523C>A
XM_011511734.1:c.1156C>A	XP_011510036.1:p.His386Asn
XM_011511735.1:c.1156C>A	XP_011510037.1:p.His386Asn
XM_011511736.1:c.1078C>A	XP_011510038.1:p.His360Asn
XM_011511737.1:c.1156C>A	XP_011510039.1:p.His386Asn
XM_011511742.1:c.1293C>A	XP_011510044.1:p.Ser431Arg
XM_011511743.1:c.1293C>A	XP_011510045.1:p.Ser431Arg
XM_011511744.1:c.1293C>A	XP_011510046.1:p.Ser431Arg
XM_011511745.1:c.1156C>A	XP_011510047.1:p.His386Asn
XM_011511748.1:c.1227C>A	XP_011510050.1:p.Ser409Arg
XM_011511749.1:c.1179+1032C>A	XP_011510051.1:n.1179+1032C>A
XM_011511750.1:c.1156C>A	XP_011510052.1:p.His386Asn
XM_011511751.1:c.1212+747C>A	XP_011510053.1:n.1212+747C>A
XM_011511753.1:c.1075+1032C>A	XP_011510055.1:n.1075+1032C>A
XM_011511754.1:c.595C>A	XP_011510056.1:p.His199Asn
XM_011511755.1:c.586C>A	XP_011510057.1:p.His196Asn
XM_011511756.1:c.853+6449C>A	XP_011510058.1:n.853+6449C>A
XM_011511757.1:c.*94C>A	XP_011510059.1:n.*94C>A
XR_241434.3:n.1417C>A
XR_923003.1:n.1939C>A
XR_923004.1:n.1710C>A
XR_923005.1:n.1453C>A
XR_923006.1:n.1453C>A
XR_923007.1:n.1420C>A
XR_923008.1:n.1316C>A
XR_923009.1:n.1316C>A
XR_923010.1:n.1750C>A
XR_923011.1:n.1521C>A
XR_923012.1:n.1455C>A
XR_923014.1:n.1014-4523C>A
NM_001352824.1:c.517C>A	NP_001339753.1:p.His173Asn
XM_011511734.2:c.1156C>A	XP_011510036.1:p.His386Asn
XM_011511735.2:c.1156C>A	XP_011510037.1:p.His386Asn
XM_011511736.2:c.1078C>A	XP_011510038.1:p.His360Asn
XM_011511737.3:c.1156C>A	XP_011510039.1:p.His386Asn
XM_011511743.2:c.1293C>A	XP_011510045.1:p.Ser431Arg
XM_011511744.2:c.1293C>A	XP_011510046.1:p.Ser431Arg
XM_011511745.3:c.1156C>A	XP_011510047.1:p.His386Asn
XM_011511749.3:c.1179+1032C>A	XP_011510051.1:n.1179+1032C>A
XM_011511750.3:c.1156C>A	XP_011510052.1:p.His386Asn
XM_011511751.2:c.1212+747C>A	XP_011510053.1:n.1212+747C>A
XM_011511753.3:c.1075+1032C>A	XP_011510055.1:n.1075+1032C>A
XM_011511756.2:c.853+6449C>A	XP_011510058.1:n.853+6449C>A
XM_017004828.2:c.1078C>A	XP_016860317.1:p.His360Asn
XM_017004829.2:c.1293C>A	XP_016860318.1:p.Ser431Arg
XM_017004830.2:c.1156C>A	XP_016860319.1:p.His386Asn
XM_024453102.1:c.928C>A	XP_024308870.1:p.His310Asn
XR_001738918.2:n.1452C>A
XR_001738919.2:n.1386C>A
XR_002959334.1:n.1938C>A
XR_002959335.1:n.1582C>A
XR_241434.4:n.1416C>A
XR_923004.3:n.1709C>A
XR_923005.2:n.1452C>A
XR_923007.3:n.1419C>A
XR_923009.2:n.1315C>A
XR_923010.2:n.1749C>A
XR_923011.3:n.1520C>A
XR_923012.2:n.1454C>A
XR_923014.3:n.1013-4523C>A
NM_152783.5:c.1078C>A MANE Select	NP_689996.4:p.His360Asn
NM_001287249.2:c.676C>A	NP_001274178.1:p.His226Asn
NM_001352824.2:c.517C>A	NP_001339753.1:p.His173Asn
NR_109778.2:n.1012-4523C>A