Canonical Allele Identifier: CA2664133873

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241751392-C-T

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751392C>T , CM000664.2:g.241751392C>T	GRCh38
NC_000002.11:g.242690807C>T , CM000664.1:g.242690807C>T	GRCh37
NC_000002.10:g.242339480C>T	NCBI36
NG_012012.1:g.21778C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1140+4C>T MANE Select	ENSP00000315351.4:n.1140+4C>T
ENST00000321264.8:c.1140+4C>T	ENSP00000315351.4:n.1140+4C>T
ENST00000400769.6:c.854-4457C>T	ENSP00000383580.2:n.854-4457C>T
ENST00000403782.5:c.738+4C>T	ENSP00000384723.1:n.738+4C>T
ENST00000432449.1:c.400+4C>T
ENST00000436747.5:c.*1456+4C>T	ENSP00000400212.1:n.*1456+4C>T
ENST00000467427.5:n.389+1098C>T
ENST00000470343.5:n.621+4C>T
ENST00000473126.1:n.339+4C>T
ENST00000486953.5:n.163+1098C>T
NM_001287249.1:c.738+4C>T	NP_001274178.1:n.738+4C>T
NM_152783.4:c.1140+4C>T	NP_689996.4:n.1140+4C>T
NR_109778.1:n.1063-4457C>T
XM_011511734.1:c.1218+4C>T	XP_011510036.1:n.1218+4C>T
XM_011511735.1:c.1218+4C>T	XP_011510037.1:n.1218+4C>T
XM_011511736.1:c.1140+4C>T	XP_011510038.1:n.1140+4C>T
XM_011511737.1:c.1218+4C>T	XP_011510039.1:n.1218+4C>T
XM_011511742.1:c.*38+4C>T	XP_011510044.1:n.*38+4C>T
XM_011511743.1:c.*38+4C>T	XP_011510045.1:n.*38+4C>T
XM_011511744.1:c.*38+4C>T	XP_011510046.1:n.*38+4C>T
XM_011511745.1:c.1218+4C>T	XP_011510047.1:n.1218+4C>T
XM_011511748.1:c.*38+4C>T	XP_011510050.1:n.*38+4C>T
XM_011511749.1:c.1179+1098C>T	XP_011510051.1:n.1179+1098C>T
XM_011511750.1:c.1218+4C>T	XP_011510052.1:n.1218+4C>T
XM_011511751.1:c.1212+813C>T	XP_011510053.1:n.1212+813C>T
XM_011511753.1:c.1075+1098C>T	XP_011510055.1:n.1075+1098C>T
XM_011511754.1:c.657+4C>T	XP_011510056.1:n.657+4C>T
XM_011511755.1:c.648+4C>T	XP_011510057.1:n.648+4C>T
XM_011511756.1:c.853+6515C>T	XP_011510058.1:n.853+6515C>T
XR_241434.3:n.1479+4C>T
XR_923003.1:n.2001+4C>T
XR_923004.1:n.1772+4C>T
XR_923005.1:n.1515+4C>T
XR_923006.1:n.1515+4C>T
XR_923007.1:n.1482+4C>T
XR_923008.1:n.1378+4C>T
XR_923009.1:n.1378+4C>T
XR_923010.1:n.1812+4C>T
XR_923011.1:n.1583+4C>T
XR_923012.1:n.1517+4C>T
XR_923014.1:n.1014-4457C>T
NM_001352824.1:c.579+4C>T	NP_001339753.1:n.579+4C>T
XM_011511734.2:c.1218+4C>T	XP_011510036.1:n.1218+4C>T
XM_011511735.2:c.1218+4C>T	XP_011510037.1:n.1218+4C>T
XM_011511736.2:c.1140+4C>T	XP_011510038.1:n.1140+4C>T
XM_011511737.3:c.1218+4C>T	XP_011510039.1:n.1218+4C>T
XM_011511743.2:c.*38+4C>T	XP_011510045.1:n.*38+4C>T
XM_011511744.2:c.*38+4C>T	XP_011510046.1:n.*38+4C>T
XM_011511745.3:c.1218+4C>T	XP_011510047.1:n.1218+4C>T
XM_011511749.3:c.1179+1098C>T	XP_011510051.1:n.1179+1098C>T
XM_011511750.3:c.1218+4C>T	XP_011510052.1:n.1218+4C>T
XM_011511751.2:c.1212+813C>T	XP_011510053.1:n.1212+813C>T
XM_011511753.3:c.1075+1098C>T	XP_011510055.1:n.1075+1098C>T
XM_011511756.2:c.853+6515C>T	XP_011510058.1:n.853+6515C>T
XM_017004828.2:c.1140+4C>T	XP_016860317.1:n.1140+4C>T
XM_017004829.2:c.*38+4C>T	XP_016860318.1:n.*38+4C>T
XM_017004830.2:c.1218+4C>T	XP_016860319.1:n.1218+4C>T
XM_024453102.1:c.990+4C>T	XP_024308870.1:n.990+4C>T
XR_001738918.2:n.1514+4C>T
XR_001738919.2:n.1448+4C>T
XR_002959334.1:n.2000+4C>T
XR_002959335.1:n.1644+4C>T
XR_241434.4:n.1478+4C>T
XR_923004.3:n.1771+4C>T
XR_923005.2:n.1514+4C>T
XR_923007.3:n.1481+4C>T
XR_923009.2:n.1377+4C>T
XR_923010.2:n.1811+4C>T
XR_923011.3:n.1582+4C>T
XR_923012.2:n.1516+4C>T
XR_923014.3:n.1013-4457C>T
NM_152783.5:c.1140+4C>T MANE Select	NP_689996.4:n.1140+4C>T
NM_001287249.2:c.738+4C>T	NP_001274178.1:n.738+4C>T
NM_001352824.2:c.579+4C>T	NP_001339753.1:n.579+4C>T
NR_109778.2:n.1012-4457C>T