Canonical Allele Identifier: CA2664133831

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241751141-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751141C>A , CM000664.2:g.241751141C>A	GRCh38
NC_000002.11:g.242690556C>A , CM000664.1:g.242690556C>A	GRCh37
NC_000002.10:g.242339229C>A	NCBI36
NG_012012.1:g.21527C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.998-105C>A MANE Select	ENSP00000315351.4:n.998-105C>A
ENST00000321264.8:c.998-105C>A	ENSP00000315351.4:n.998-105C>A
ENST00000400769.6:c.854-4708C>A	ENSP00000383580.2:n.854-4708C>A
ENST00000403782.5:c.596-105C>A	ENSP00000384723.1:n.596-105C>A
ENST00000432449.1:c.258-105C>A
ENST00000436747.5:c.*1314-105C>A	ENSP00000400212.1:n.*1314-105C>A
ENST00000454048.1:c.101-105C>A	ENSP00000404596.1:n.101-105C>A
ENST00000467427.5:n.389+847C>A
ENST00000470343.5:n.479-105C>A
ENST00000473126.1:n.197-105C>A
ENST00000486953.5:n.163+847C>A
ENST00000496252.5:n.353-105C>A
NM_001287249.1:c.596-105C>A	NP_001274178.1:n.596-105C>A
NM_152783.4:c.998-105C>A	NP_689996.4:n.998-105C>A
NR_109778.1:n.1063-4708C>A
XM_011511734.1:c.1076-105C>A	XP_011510036.1:n.1076-105C>A
XM_011511735.1:c.1076-105C>A	XP_011510037.1:n.1076-105C>A
XM_011511736.1:c.998-105C>A	XP_011510038.1:n.998-105C>A
XM_011511737.1:c.1076-105C>A	XP_011510039.1:n.1076-105C>A
XM_011511742.1:c.1213-105C>A	XP_011510044.1:n.1213-105C>A
XM_011511743.1:c.1213-105C>A	XP_011510045.1:n.1213-105C>A
XM_011511744.1:c.1213-105C>A	XP_011510046.1:n.1213-105C>A
XM_011511745.1:c.1076-105C>A	XP_011510047.1:n.1076-105C>A
XM_011511748.1:c.1147-105C>A	XP_011510050.1:n.1147-105C>A
XM_011511749.1:c.1179+847C>A	XP_011510051.1:n.1179+847C>A
XM_011511750.1:c.1076-105C>A	XP_011510052.1:n.1076-105C>A
XM_011511751.1:c.1212+562C>A	XP_011510053.1:n.1212+562C>A
XM_011511753.1:c.1075+847C>A	XP_011510055.1:n.1075+847C>A
XM_011511754.1:c.515-105C>A	XP_011510056.1:n.515-105C>A
XM_011511755.1:c.506-105C>A	XP_011510057.1:n.506-105C>A
XM_011511756.1:c.853+6264C>A	XP_011510058.1:n.853+6264C>A
XM_011511757.1:c.*14-105C>A	XP_011510059.1:n.*14-105C>A
XR_241434.3:n.1337-105C>A
XR_923003.1:n.1859-105C>A
XR_923004.1:n.1630-105C>A
XR_923005.1:n.1373-105C>A
XR_923006.1:n.1373-105C>A
XR_923007.1:n.1340-105C>A
XR_923008.1:n.1236-105C>A
XR_923009.1:n.1236-105C>A
XR_923010.1:n.1670-105C>A
XR_923011.1:n.1441-105C>A
XR_923012.1:n.1375-105C>A
XR_923014.1:n.1014-4708C>A
NM_001352824.1:c.437-105C>A	NP_001339753.1:n.437-105C>A
XM_011511734.2:c.1076-105C>A	XP_011510036.1:n.1076-105C>A
XM_011511735.2:c.1076-105C>A	XP_011510037.1:n.1076-105C>A
XM_011511736.2:c.998-105C>A	XP_011510038.1:n.998-105C>A
XM_011511737.3:c.1076-105C>A	XP_011510039.1:n.1076-105C>A
XM_011511743.2:c.1213-105C>A	XP_011510045.1:n.1213-105C>A
XM_011511744.2:c.1213-105C>A	XP_011510046.1:n.1213-105C>A
XM_011511745.3:c.1076-105C>A	XP_011510047.1:n.1076-105C>A
XM_011511749.3:c.1179+847C>A	XP_011510051.1:n.1179+847C>A
XM_011511750.3:c.1076-105C>A	XP_011510052.1:n.1076-105C>A
XM_011511751.2:c.1212+562C>A	XP_011510053.1:n.1212+562C>A
XM_011511753.3:c.1075+847C>A	XP_011510055.1:n.1075+847C>A
XM_011511756.2:c.853+6264C>A	XP_011510058.1:n.853+6264C>A
XM_011511757.3:c.*14-105C>A	XP_011510059.1:n.*14-105C>A
XM_017004828.2:c.998-105C>A	XP_016860317.1:n.998-105C>A
XM_017004829.2:c.1213-105C>A	XP_016860318.1:n.1213-105C>A
XM_017004830.2:c.1076-105C>A	XP_016860319.1:n.1076-105C>A
XM_024453102.1:c.848-105C>A	XP_024308870.1:n.848-105C>A
XR_001738918.2:n.1372-105C>A
XR_001738919.2:n.1306-105C>A
XR_002959334.1:n.1858-105C>A
XR_002959335.1:n.1502-105C>A
XR_241434.4:n.1336-105C>A
XR_923004.3:n.1629-105C>A
XR_923005.2:n.1372-105C>A
XR_923007.3:n.1339-105C>A
XR_923009.2:n.1235-105C>A
XR_923010.2:n.1669-105C>A
XR_923011.3:n.1440-105C>A
XR_923012.2:n.1374-105C>A
XR_923014.3:n.1013-4708C>A
NM_152783.5:c.998-105C>A MANE Select	NP_689996.4:n.998-105C>A
NM_001287249.2:c.596-105C>A	NP_001274178.1:n.596-105C>A
NM_001352824.2:c.437-105C>A	NP_001339753.1:n.437-105C>A
NR_109778.2:n.1012-4708C>A