Canonical Allele Identifier: CA432092729

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690723C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751308C>T , CM000664.2:g.241751308C>T	GRCh38
NC_000002.11:g.242690723C>T , CM000664.1:g.242690723C>T	GRCh37
NC_000002.10:g.242339396C>T	NCBI36
NG_012012.1:g.21694C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1060C>T MANE Select	ENSP00000315351.4:p.Leu354=
ENST00000321264.8:c.1060C>T	ENSP00000315351.4:p.Leu354=
ENST00000400769.6:c.854-4541C>T	ENSP00000383580.2:n.854-4541C>T
ENST00000403782.5:c.658C>T	ENSP00000384723.1:p.Leu220=
ENST00000432449.1:c.320C>T
ENST00000436747.5:c.*1376C>T	ENSP00000400212.1:n.*1376C>T
ENST00000454048.1:c.163C>T	ENSP00000404596.1:p.Leu55=
ENST00000467427.5:n.389+1014C>T
ENST00000470343.5:n.541C>T
ENST00000473126.1:n.259C>T
ENST00000486953.5:n.163+1014C>T
ENST00000496252.5:n.415C>T
NM_001287249.1:c.658C>T	NP_001274178.1:p.Leu220=
NM_152783.4:c.1060C>T	NP_689996.4:p.Leu354=
NR_109778.1:n.1063-4541C>T
XM_011511734.1:c.1138C>T	XP_011510036.1:p.Leu380=
XM_011511735.1:c.1138C>T	XP_011510037.1:p.Leu380=
XM_011511736.1:c.1060C>T	XP_011510038.1:p.Leu354=
XM_011511737.1:c.1138C>T	XP_011510039.1:p.Leu380=
XM_011511742.1:c.1275C>T	XP_011510044.1:p.Ser425=
XM_011511743.1:c.1275C>T	XP_011510045.1:p.Ser425=
XM_011511744.1:c.1275C>T	XP_011510046.1:p.Ser425=
XM_011511745.1:c.1138C>T	XP_011510047.1:p.Leu380=
XM_011511748.1:c.1209C>T	XP_011510050.1:p.Ser403=
XM_011511749.1:c.1179+1014C>T	XP_011510051.1:n.1179+1014C>T
XM_011511750.1:c.1138C>T	XP_011510052.1:p.Leu380=
XM_011511751.1:c.1212+729C>T	XP_011510053.1:n.1212+729C>T
XM_011511753.1:c.1075+1014C>T	XP_011510055.1:n.1075+1014C>T
XM_011511754.1:c.577C>T	XP_011510056.1:p.Leu193=
XM_011511755.1:c.568C>T	XP_011510057.1:p.Leu190=
XM_011511756.1:c.853+6431C>T	XP_011510058.1:n.853+6431C>T
XM_011511757.1:c.*76C>T	XP_011510059.1:n.*76C>T
XR_241434.3:n.1399C>T
XR_923003.1:n.1921C>T
XR_923004.1:n.1692C>T
XR_923005.1:n.1435C>T
XR_923006.1:n.1435C>T
XR_923007.1:n.1402C>T
XR_923008.1:n.1298C>T
XR_923009.1:n.1298C>T
XR_923010.1:n.1732C>T
XR_923011.1:n.1503C>T
XR_923012.1:n.1437C>T
XR_923014.1:n.1014-4541C>T
NM_001352824.1:c.499C>T	NP_001339753.1:p.Leu167=
XM_011511734.2:c.1138C>T	XP_011510036.1:p.Leu380=
XM_011511735.2:c.1138C>T	XP_011510037.1:p.Leu380=
XM_011511736.2:c.1060C>T	XP_011510038.1:p.Leu354=
XM_011511737.3:c.1138C>T	XP_011510039.1:p.Leu380=
XM_011511743.2:c.1275C>T	XP_011510045.1:p.Ser425=
XM_011511744.2:c.1275C>T	XP_011510046.1:p.Ser425=
XM_011511745.3:c.1138C>T	XP_011510047.1:p.Leu380=
XM_011511749.3:c.1179+1014C>T	XP_011510051.1:n.1179+1014C>T
XM_011511750.3:c.1138C>T	XP_011510052.1:p.Leu380=
XM_011511751.2:c.1212+729C>T	XP_011510053.1:n.1212+729C>T
XM_011511753.3:c.1075+1014C>T	XP_011510055.1:n.1075+1014C>T
XM_011511756.2:c.853+6431C>T	XP_011510058.1:n.853+6431C>T
XM_011511757.3:c.*76C>T	XP_011510059.1:n.*76C>T
XM_017004828.2:c.1060C>T	XP_016860317.1:p.Leu354=
XM_017004829.2:c.1275C>T	XP_016860318.1:p.Ser425=
XM_017004830.2:c.1138C>T	XP_016860319.1:p.Leu380=
XM_024453102.1:c.910C>T	XP_024308870.1:p.Leu304=
XR_001738918.2:n.1434C>T
XR_001738919.2:n.1368C>T
XR_002959334.1:n.1920C>T
XR_002959335.1:n.1564C>T
XR_241434.4:n.1398C>T
XR_923004.3:n.1691C>T
XR_923005.2:n.1434C>T
XR_923007.3:n.1401C>T
XR_923009.2:n.1297C>T
XR_923010.2:n.1731C>T
XR_923011.3:n.1502C>T
XR_923012.2:n.1436C>T
XR_923014.3:n.1013-4541C>T
NM_152783.5:c.1060C>T MANE Select	NP_689996.4:p.Leu354=
NM_001287249.2:c.658C>T	NP_001274178.1:p.Leu220=
NM_001352824.2:c.499C>T	NP_001339753.1:p.Leu167=
NR_109778.2:n.1012-4541C>T