Canonical Allele Identifier: CA2664133985

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241751511-G-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751511G>C , CM000664.2:g.241751511G>C	GRCh38
NC_000002.11:g.242690926G>C , CM000664.1:g.242690926G>C	GRCh37
NC_000002.10:g.242339599G>C	NCBI36
NG_012012.1:g.21897G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1140+123G>C MANE Select	ENSP00000315351.4:n.1140+123G>C
ENST00000321264.8:c.1140+123G>C	ENSP00000315351.4:n.1140+123G>C
ENST00000400769.6:c.854-4338G>C	ENSP00000383580.2:n.854-4338G>C
ENST00000403782.5:c.738+123G>C	ENSP00000384723.1:n.738+123G>C
ENST00000432449.1:c.400+123G>C
ENST00000436747.5:c.*1456+123G>C	ENSP00000400212.1:n.*1456+123G>C
ENST00000467427.5:n.389+1217G>C
ENST00000470343.5:n.621+123G>C
ENST00000473126.1:n.339+123G>C
ENST00000486953.5:n.163+1217G>C
NM_001287249.1:c.738+123G>C	NP_001274178.1:n.738+123G>C
NM_152783.4:c.1140+123G>C	NP_689996.4:n.1140+123G>C
NR_109778.1:n.1063-4338G>C
XM_011511734.1:c.1218+123G>C	XP_011510036.1:n.1218+123G>C
XM_011511735.1:c.1218+123G>C	XP_011510037.1:n.1218+123G>C
XM_011511736.1:c.1140+123G>C	XP_011510038.1:n.1140+123G>C
XM_011511737.1:c.1218+123G>C	XP_011510039.1:n.1218+123G>C
XM_011511742.1:c.*38+123G>C	XP_011510044.1:n.*38+123G>C
XM_011511743.1:c.*38+123G>C	XP_011510045.1:n.*38+123G>C
XM_011511744.1:c.*38+123G>C	XP_011510046.1:n.*38+123G>C
XM_011511745.1:c.1218+123G>C	XP_011510047.1:n.1218+123G>C
XM_011511748.1:c.*38+123G>C	XP_011510050.1:n.*38+123G>C
XM_011511749.1:c.1179+1217G>C	XP_011510051.1:n.1179+1217G>C
XM_011511750.1:c.1218+123G>C	XP_011510052.1:n.1218+123G>C
XM_011511751.1:c.1212+932G>C	XP_011510053.1:n.1212+932G>C
XM_011511753.1:c.1075+1217G>C	XP_011510055.1:n.1075+1217G>C
XM_011511754.1:c.657+123G>C	XP_011510056.1:n.657+123G>C
XM_011511755.1:c.648+123G>C	XP_011510057.1:n.648+123G>C
XM_011511756.1:c.853+6634G>C	XP_011510058.1:n.853+6634G>C
XR_241434.3:n.1479+123G>C
XR_923003.1:n.2001+123G>C
XR_923004.1:n.1772+123G>C
XR_923005.1:n.1515+123G>C
XR_923006.1:n.1515+123G>C
XR_923007.1:n.1482+123G>C
XR_923008.1:n.1378+123G>C
XR_923009.1:n.1378+123G>C
XR_923010.1:n.1812+123G>C
XR_923011.1:n.1583+123G>C
XR_923012.1:n.1517+123G>C
XR_923014.1:n.1014-4338G>C
NM_001352824.1:c.579+123G>C	NP_001339753.1:n.579+123G>C
XM_011511734.2:c.1218+123G>C	XP_011510036.1:n.1218+123G>C
XM_011511735.2:c.1218+123G>C	XP_011510037.1:n.1218+123G>C
XM_011511736.2:c.1140+123G>C	XP_011510038.1:n.1140+123G>C
XM_011511737.3:c.1218+123G>C	XP_011510039.1:n.1218+123G>C
XM_011511743.2:c.*38+123G>C	XP_011510045.1:n.*38+123G>C
XM_011511744.2:c.*38+123G>C	XP_011510046.1:n.*38+123G>C
XM_011511745.3:c.1218+123G>C	XP_011510047.1:n.1218+123G>C
XM_011511749.3:c.1179+1217G>C	XP_011510051.1:n.1179+1217G>C
XM_011511750.3:c.1218+123G>C	XP_011510052.1:n.1218+123G>C
XM_011511751.2:c.1212+932G>C	XP_011510053.1:n.1212+932G>C
XM_011511753.3:c.1075+1217G>C	XP_011510055.1:n.1075+1217G>C
XM_011511756.2:c.853+6634G>C	XP_011510058.1:n.853+6634G>C
XM_017004828.2:c.1140+123G>C	XP_016860317.1:n.1140+123G>C
XM_017004829.2:c.*38+123G>C	XP_016860318.1:n.*38+123G>C
XM_017004830.2:c.1218+123G>C	XP_016860319.1:n.1218+123G>C
XM_024453102.1:c.990+123G>C	XP_024308870.1:n.990+123G>C
XR_001738918.2:n.1514+123G>C
XR_001738919.2:n.1448+123G>C
XR_002959334.1:n.2000+123G>C
XR_002959335.1:n.1644+123G>C
XR_241434.4:n.1478+123G>C
XR_923004.3:n.1771+123G>C
XR_923005.2:n.1514+123G>C
XR_923007.3:n.1481+123G>C
XR_923009.2:n.1377+123G>C
XR_923010.2:n.1811+123G>C
XR_923011.3:n.1582+123G>C
XR_923012.2:n.1516+123G>C
XR_923014.3:n.1013-4338G>C
NM_152783.5:c.1140+123G>C MANE Select	NP_689996.4:n.1140+123G>C
NM_001287249.2:c.738+123G>C	NP_001274178.1:n.738+123G>C
NM_001352824.2:c.579+123G>C	NP_001339753.1:n.579+123G>C
NR_109778.2:n.1012-4338G>C