Canonical Allele Identifier: CA351408740

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690729C>G (hg19) ; chr2:g.241751314C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751314C>G , CM000664.2:g.241751314C>G	GRCh38
NC_000002.11:g.242690729C>G , CM000664.1:g.242690729C>G	GRCh37
NC_000002.10:g.242339402C>G	NCBI36
NG_012012.1:g.21700C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1066C>G MANE Select	ENSP00000315351.4:p.His356Asp
ENST00000321264.8:c.1066C>G	ENSP00000315351.4:p.His356Asp
ENST00000400769.6:c.854-4535C>G	ENSP00000383580.2:n.854-4535C>G
ENST00000403782.5:c.664C>G	ENSP00000384723.1:p.His222Asp
ENST00000432449.1:c.326C>G
ENST00000436747.5:c.*1382C>G	ENSP00000400212.1:n.*1382C>G
ENST00000454048.1:c.169C>G	ENSP00000404596.1:p.His57Asp
ENST00000467427.5:n.389+1020C>G
ENST00000470343.5:n.547C>G
ENST00000473126.1:n.265C>G
ENST00000486953.5:n.163+1020C>G
ENST00000496252.5:n.421C>G
NM_001287249.1:c.664C>G	NP_001274178.1:p.His222Asp
NM_152783.4:c.1066C>G	NP_689996.4:p.His356Asp
NR_109778.1:n.1063-4535C>G
XM_011511734.1:c.1144C>G	XP_011510036.1:p.His382Asp
XM_011511735.1:c.1144C>G	XP_011510037.1:p.His382Asp
XM_011511736.1:c.1066C>G	XP_011510038.1:p.His356Asp
XM_011511737.1:c.1144C>G	XP_011510039.1:p.His382Asp
XM_011511742.1:c.1281C>G	XP_011510044.1:p.Ala427=
XM_011511743.1:c.1281C>G	XP_011510045.1:p.Ala427=
XM_011511744.1:c.1281C>G	XP_011510046.1:p.Ala427=
XM_011511745.1:c.1144C>G	XP_011510047.1:p.His382Asp
XM_011511748.1:c.1215C>G	XP_011510050.1:p.Ala405=
XM_011511749.1:c.1179+1020C>G	XP_011510051.1:n.1179+1020C>G
XM_011511750.1:c.1144C>G	XP_011510052.1:p.His382Asp
XM_011511751.1:c.1212+735C>G	XP_011510053.1:n.1212+735C>G
XM_011511753.1:c.1075+1020C>G	XP_011510055.1:n.1075+1020C>G
XM_011511754.1:c.583C>G	XP_011510056.1:p.His195Asp
XM_011511755.1:c.574C>G	XP_011510057.1:p.His192Asp
XM_011511756.1:c.853+6437C>G	XP_011510058.1:n.853+6437C>G
XM_011511757.1:c.*82C>G	XP_011510059.1:n.*82C>G
XR_241434.3:n.1405C>G
XR_923003.1:n.1927C>G
XR_923004.1:n.1698C>G
XR_923005.1:n.1441C>G
XR_923006.1:n.1441C>G
XR_923007.1:n.1408C>G
XR_923008.1:n.1304C>G
XR_923009.1:n.1304C>G
XR_923010.1:n.1738C>G
XR_923011.1:n.1509C>G
XR_923012.1:n.1443C>G
XR_923014.1:n.1014-4535C>G
NM_001352824.1:c.505C>G	NP_001339753.1:p.His169Asp
XM_011511734.2:c.1144C>G	XP_011510036.1:p.His382Asp
XM_011511735.2:c.1144C>G	XP_011510037.1:p.His382Asp
XM_011511736.2:c.1066C>G	XP_011510038.1:p.His356Asp
XM_011511737.3:c.1144C>G	XP_011510039.1:p.His382Asp
XM_011511743.2:c.1281C>G	XP_011510045.1:p.Ala427=
XM_011511744.2:c.1281C>G	XP_011510046.1:p.Ala427=
XM_011511745.3:c.1144C>G	XP_011510047.1:p.His382Asp
XM_011511749.3:c.1179+1020C>G	XP_011510051.1:n.1179+1020C>G
XM_011511750.3:c.1144C>G	XP_011510052.1:p.His382Asp
XM_011511751.2:c.1212+735C>G	XP_011510053.1:n.1212+735C>G
XM_011511753.3:c.1075+1020C>G	XP_011510055.1:n.1075+1020C>G
XM_011511756.2:c.853+6437C>G	XP_011510058.1:n.853+6437C>G
XM_017004828.2:c.1066C>G	XP_016860317.1:p.His356Asp
XM_017004829.2:c.1281C>G	XP_016860318.1:p.Ala427=
XM_017004830.2:c.1144C>G	XP_016860319.1:p.His382Asp
XM_024453102.1:c.916C>G	XP_024308870.1:p.His306Asp
XR_001738918.2:n.1440C>G
XR_001738919.2:n.1374C>G
XR_002959334.1:n.1926C>G
XR_002959335.1:n.1570C>G
XR_241434.4:n.1404C>G
XR_923004.3:n.1697C>G
XR_923005.2:n.1440C>G
XR_923007.3:n.1407C>G
XR_923009.2:n.1303C>G
XR_923010.2:n.1737C>G
XR_923011.3:n.1508C>G
XR_923012.2:n.1442C>G
XR_923014.3:n.1013-4535C>G
NM_152783.5:c.1066C>G MANE Select	NP_689996.4:p.His356Asp
NM_001287249.2:c.664C>G	NP_001274178.1:p.His222Asp
NM_001352824.2:c.505C>G	NP_001339753.1:p.His169Asp
NR_109778.2:n.1012-4535C>G