Canonical Allele Identifier: CA1339776325

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1697185380
• gnomAD v4: 2-241751442-T-C

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751442T>C , CM000664.2:g.241751442T>C	GRCh38
NC_000002.11:g.242690857T>C , CM000664.1:g.242690857T>C	GRCh37
NC_000002.10:g.242339530T>C	NCBI36
NG_012012.1:g.21828T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1140+54T>C MANE Select	ENSP00000315351.4:n.1140+54T>C
ENST00000321264.8:c.1140+54T>C	ENSP00000315351.4:n.1140+54T>C
ENST00000400769.6:c.854-4407T>C	ENSP00000383580.2:n.854-4407T>C
ENST00000403782.5:c.738+54T>C	ENSP00000384723.1:n.738+54T>C
ENST00000432449.1:c.400+54T>C
ENST00000436747.5:c.*1456+54T>C	ENSP00000400212.1:n.*1456+54T>C
ENST00000467427.5:n.389+1148T>C
ENST00000470343.5:n.621+54T>C
ENST00000473126.1:n.339+54T>C
ENST00000486953.5:n.163+1148T>C
NM_001287249.1:c.738+54T>C	NP_001274178.1:n.738+54T>C
NM_152783.4:c.1140+54T>C	NP_689996.4:n.1140+54T>C
NR_109778.1:n.1063-4407T>C
XM_011511734.1:c.1218+54T>C	XP_011510036.1:n.1218+54T>C
XM_011511735.1:c.1218+54T>C	XP_011510037.1:n.1218+54T>C
XM_011511736.1:c.1140+54T>C	XP_011510038.1:n.1140+54T>C
XM_011511737.1:c.1218+54T>C	XP_011510039.1:n.1218+54T>C
XM_011511742.1:c.*38+54T>C	XP_011510044.1:n.*38+54T>C
XM_011511743.1:c.*38+54T>C	XP_011510045.1:n.*38+54T>C
XM_011511744.1:c.*38+54T>C	XP_011510046.1:n.*38+54T>C
XM_011511745.1:c.1218+54T>C	XP_011510047.1:n.1218+54T>C
XM_011511748.1:c.*38+54T>C	XP_011510050.1:n.*38+54T>C
XM_011511749.1:c.1179+1148T>C	XP_011510051.1:n.1179+1148T>C
XM_011511750.1:c.1218+54T>C	XP_011510052.1:n.1218+54T>C
XM_011511751.1:c.1212+863T>C	XP_011510053.1:n.1212+863T>C
XM_011511753.1:c.1075+1148T>C	XP_011510055.1:n.1075+1148T>C
XM_011511754.1:c.657+54T>C	XP_011510056.1:n.657+54T>C
XM_011511755.1:c.648+54T>C	XP_011510057.1:n.648+54T>C
XM_011511756.1:c.853+6565T>C	XP_011510058.1:n.853+6565T>C
XR_241434.3:n.1479+54T>C
XR_923003.1:n.2001+54T>C
XR_923004.1:n.1772+54T>C
XR_923005.1:n.1515+54T>C
XR_923006.1:n.1515+54T>C
XR_923007.1:n.1482+54T>C
XR_923008.1:n.1378+54T>C
XR_923009.1:n.1378+54T>C
XR_923010.1:n.1812+54T>C
XR_923011.1:n.1583+54T>C
XR_923012.1:n.1517+54T>C
XR_923014.1:n.1014-4407T>C
NM_001352824.1:c.579+54T>C	NP_001339753.1:n.579+54T>C
XM_011511734.2:c.1218+54T>C	XP_011510036.1:n.1218+54T>C
XM_011511735.2:c.1218+54T>C	XP_011510037.1:n.1218+54T>C
XM_011511736.2:c.1140+54T>C	XP_011510038.1:n.1140+54T>C
XM_011511737.3:c.1218+54T>C	XP_011510039.1:n.1218+54T>C
XM_011511743.2:c.*38+54T>C	XP_011510045.1:n.*38+54T>C
XM_011511744.2:c.*38+54T>C	XP_011510046.1:n.*38+54T>C
XM_011511745.3:c.1218+54T>C	XP_011510047.1:n.1218+54T>C
XM_011511749.3:c.1179+1148T>C	XP_011510051.1:n.1179+1148T>C
XM_011511750.3:c.1218+54T>C	XP_011510052.1:n.1218+54T>C
XM_011511751.2:c.1212+863T>C	XP_011510053.1:n.1212+863T>C
XM_011511753.3:c.1075+1148T>C	XP_011510055.1:n.1075+1148T>C
XM_011511756.2:c.853+6565T>C	XP_011510058.1:n.853+6565T>C
XM_017004828.2:c.1140+54T>C	XP_016860317.1:n.1140+54T>C
XM_017004829.2:c.*38+54T>C	XP_016860318.1:n.*38+54T>C
XM_017004830.2:c.1218+54T>C	XP_016860319.1:n.1218+54T>C
XM_024453102.1:c.990+54T>C	XP_024308870.1:n.990+54T>C
XR_001738918.2:n.1514+54T>C
XR_001738919.2:n.1448+54T>C
XR_002959334.1:n.2000+54T>C
XR_002959335.1:n.1644+54T>C
XR_241434.4:n.1478+54T>C
XR_923004.3:n.1771+54T>C
XR_923005.2:n.1514+54T>C
XR_923007.3:n.1481+54T>C
XR_923009.2:n.1377+54T>C
XR_923010.2:n.1811+54T>C
XR_923011.3:n.1582+54T>C
XR_923012.2:n.1516+54T>C
XR_923014.3:n.1013-4407T>C
NM_152783.5:c.1140+54T>C MANE Select	NP_689996.4:n.1140+54T>C
NM_001287249.2:c.738+54T>C	NP_001274178.1:n.738+54T>C
NM_001352824.2:c.579+54T>C	NP_001339753.1:n.579+54T>C
NR_109778.2:n.1012-4407T>C