Canonical Allele Identifier: CA432092814

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690749G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751334G>C , CM000664.2:g.241751334G>C	GRCh38
NC_000002.11:g.242690749G>C , CM000664.1:g.242690749G>C	GRCh37
NC_000002.10:g.242339422G>C	NCBI36
NG_012012.1:g.21720G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1086G>C MANE Select	ENSP00000315351.4:p.Leu362=
ENST00000321264.8:c.1086G>C	ENSP00000315351.4:p.Leu362=
ENST00000400769.6:c.854-4515G>C	ENSP00000383580.2:n.854-4515G>C
ENST00000403782.5:c.684G>C	ENSP00000384723.1:p.Leu228=
ENST00000432449.1:c.346G>C
ENST00000436747.5:c.*1402G>C	ENSP00000400212.1:n.*1402G>C
ENST00000454048.1:c.189G>C	ENSP00000404596.1:p.Leu63=
ENST00000467427.5:n.389+1040G>C
ENST00000470343.5:n.567G>C
ENST00000473126.1:n.285G>C
ENST00000486953.5:n.163+1040G>C
ENST00000496252.5:n.441G>C
NM_001287249.1:c.684G>C	NP_001274178.1:p.Leu228=
NM_152783.4:c.1086G>C	NP_689996.4:p.Leu362=
NR_109778.1:n.1063-4515G>C
XM_011511734.1:c.1164G>C	XP_011510036.1:p.Leu388=
XM_011511735.1:c.1164G>C	XP_011510037.1:p.Leu388=
XM_011511736.1:c.1086G>C	XP_011510038.1:p.Leu362=
XM_011511737.1:c.1164G>C	XP_011510039.1:p.Leu388=
XM_011511742.1:c.1301G>C	XP_011510044.1:p.Trp434Ser
XM_011511743.1:c.1301G>C	XP_011510045.1:p.Trp434Ser
XM_011511744.1:c.1301G>C	XP_011510046.1:p.Trp434Ser
XM_011511745.1:c.1164G>C	XP_011510047.1:p.Leu388=
XM_011511748.1:c.1235G>C	XP_011510050.1:p.Trp412Ser
XM_011511749.1:c.1179+1040G>C	XP_011510051.1:n.1179+1040G>C
XM_011511750.1:c.1164G>C	XP_011510052.1:p.Leu388=
XM_011511751.1:c.1212+755G>C	XP_011510053.1:n.1212+755G>C
XM_011511753.1:c.1075+1040G>C	XP_011510055.1:n.1075+1040G>C
XM_011511754.1:c.603G>C	XP_011510056.1:p.Leu201=
XM_011511755.1:c.594G>C	XP_011510057.1:p.Leu198=
XM_011511756.1:c.853+6457G>C	XP_011510058.1:n.853+6457G>C
XR_241434.3:n.1425G>C
XR_923003.1:n.1947G>C
XR_923004.1:n.1718G>C
XR_923005.1:n.1461G>C
XR_923006.1:n.1461G>C
XR_923007.1:n.1428G>C
XR_923008.1:n.1324G>C
XR_923009.1:n.1324G>C
XR_923010.1:n.1758G>C
XR_923011.1:n.1529G>C
XR_923012.1:n.1463G>C
XR_923014.1:n.1014-4515G>C
NM_001352824.1:c.525G>C	NP_001339753.1:p.Leu175=
XM_011511734.2:c.1164G>C	XP_011510036.1:p.Leu388=
XM_011511735.2:c.1164G>C	XP_011510037.1:p.Leu388=
XM_011511736.2:c.1086G>C	XP_011510038.1:p.Leu362=
XM_011511737.3:c.1164G>C	XP_011510039.1:p.Leu388=
XM_011511743.2:c.1301G>C	XP_011510045.1:p.Trp434Ser
XM_011511744.2:c.1301G>C	XP_011510046.1:p.Trp434Ser
XM_011511745.3:c.1164G>C	XP_011510047.1:p.Leu388=
XM_011511749.3:c.1179+1040G>C	XP_011510051.1:n.1179+1040G>C
XM_011511750.3:c.1164G>C	XP_011510052.1:p.Leu388=
XM_011511751.2:c.1212+755G>C	XP_011510053.1:n.1212+755G>C
XM_011511753.3:c.1075+1040G>C	XP_011510055.1:n.1075+1040G>C
XM_011511756.2:c.853+6457G>C	XP_011510058.1:n.853+6457G>C
XM_017004828.2:c.1086G>C	XP_016860317.1:p.Leu362=
XM_017004829.2:c.1301G>C	XP_016860318.1:p.Trp434Ser
XM_017004830.2:c.1164G>C	XP_016860319.1:p.Leu388=
XM_024453102.1:c.936G>C	XP_024308870.1:p.Leu312=
XR_001738918.2:n.1460G>C
XR_001738919.2:n.1394G>C
XR_002959334.1:n.1946G>C
XR_002959335.1:n.1590G>C
XR_241434.4:n.1424G>C
XR_923004.3:n.1717G>C
XR_923005.2:n.1460G>C
XR_923007.3:n.1427G>C
XR_923009.2:n.1323G>C
XR_923010.2:n.1757G>C
XR_923011.3:n.1528G>C
XR_923012.2:n.1462G>C
XR_923014.3:n.1013-4515G>C
NM_152783.5:c.1086G>C MANE Select	NP_689996.4:p.Leu362=
NM_001287249.2:c.684G>C	NP_001274178.1:p.Leu228=
NM_001352824.2:c.525G>C	NP_001339753.1:p.Leu175=
NR_109778.2:n.1012-4515G>C