Canonical Allele Identifier: CA351408602

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690663A>T (hg19) ; chr2:g.241751248A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751248A>T , CM000664.2:g.241751248A>T	GRCh38
NC_000002.11:g.242690663A>T , CM000664.1:g.242690663A>T	GRCh37
NC_000002.10:g.242339336A>T	NCBI36
NG_012012.1:g.21634A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1000A>T MANE Select	ENSP00000315351.4:p.Ser334Cys
ENST00000321264.8:c.1000A>T	ENSP00000315351.4:p.Ser334Cys
ENST00000400769.6:c.854-4601A>T	ENSP00000383580.2:n.854-4601A>T
ENST00000403782.5:c.598A>T	ENSP00000384723.1:p.Ser200Cys
ENST00000432449.1:c.260A>T
ENST00000436747.5:c.*1316A>T	ENSP00000400212.1:n.*1316A>T
ENST00000454048.1:c.103A>T	ENSP00000404596.1:p.Ser35Cys
ENST00000467427.5:n.389+954A>T
ENST00000470343.5:n.481A>T
ENST00000473126.1:n.199A>T
ENST00000486953.5:n.163+954A>T
ENST00000496252.5:n.355A>T
NM_001287249.1:c.598A>T	NP_001274178.1:p.Ser200Cys
NM_152783.4:c.1000A>T	NP_689996.4:p.Ser334Cys
NR_109778.1:n.1063-4601A>T
XM_011511734.1:c.1078A>T	XP_011510036.1:p.Ser360Cys
XM_011511735.1:c.1078A>T	XP_011510037.1:p.Ser360Cys
XM_011511736.1:c.1000A>T	XP_011510038.1:p.Ser334Cys
XM_011511737.1:c.1078A>T	XP_011510039.1:p.Ser360Cys
XM_011511742.1:c.1215A>T	XP_011510044.1:p.Arg405Ser
XM_011511743.1:c.1215A>T	XP_011510045.1:p.Arg405Ser
XM_011511744.1:c.1215A>T	XP_011510046.1:p.Arg405Ser
XM_011511745.1:c.1078A>T	XP_011510047.1:p.Ser360Cys
XM_011511748.1:c.1149A>T	XP_011510050.1:p.Arg383Ser
XM_011511749.1:c.1179+954A>T	XP_011510051.1:n.1179+954A>T
XM_011511750.1:c.1078A>T	XP_011510052.1:p.Ser360Cys
XM_011511751.1:c.1212+669A>T	XP_011510053.1:n.1212+669A>T
XM_011511753.1:c.1075+954A>T	XP_011510055.1:n.1075+954A>T
XM_011511754.1:c.517A>T	XP_011510056.1:p.Ser173Cys
XM_011511755.1:c.508A>T	XP_011510057.1:p.Ser170Cys
XM_011511756.1:c.853+6371A>T	XP_011510058.1:n.853+6371A>T
XM_011511757.1:c.*16A>T	XP_011510059.1:n.*16A>T
XR_241434.3:n.1339A>T
XR_923003.1:n.1861A>T
XR_923004.1:n.1632A>T
XR_923005.1:n.1375A>T
XR_923006.1:n.1375A>T
XR_923007.1:n.1342A>T
XR_923008.1:n.1238A>T
XR_923009.1:n.1238A>T
XR_923010.1:n.1672A>T
XR_923011.1:n.1443A>T
XR_923012.1:n.1377A>T
XR_923014.1:n.1014-4601A>T
NM_001352824.1:c.439A>T	NP_001339753.1:p.Ser147Cys
XM_011511734.2:c.1078A>T	XP_011510036.1:p.Ser360Cys
XM_011511735.2:c.1078A>T	XP_011510037.1:p.Ser360Cys
XM_011511736.2:c.1000A>T	XP_011510038.1:p.Ser334Cys
XM_011511737.3:c.1078A>T	XP_011510039.1:p.Ser360Cys
XM_011511743.2:c.1215A>T	XP_011510045.1:p.Arg405Ser
XM_011511744.2:c.1215A>T	XP_011510046.1:p.Arg405Ser
XM_011511745.3:c.1078A>T	XP_011510047.1:p.Ser360Cys
XM_011511749.3:c.1179+954A>T	XP_011510051.1:n.1179+954A>T
XM_011511750.3:c.1078A>T	XP_011510052.1:p.Ser360Cys
XM_011511751.2:c.1212+669A>T	XP_011510053.1:n.1212+669A>T
XM_011511753.3:c.1075+954A>T	XP_011510055.1:n.1075+954A>T
XM_011511756.2:c.853+6371A>T	XP_011510058.1:n.853+6371A>T
XM_011511757.3:c.*16A>T	XP_011510059.1:n.*16A>T
XM_017004828.2:c.1000A>T	XP_016860317.1:p.Ser334Cys
XM_017004829.2:c.1215A>T	XP_016860318.1:p.Arg405Ser
XM_017004830.2:c.1078A>T	XP_016860319.1:p.Ser360Cys
XM_024453102.1:c.850A>T	XP_024308870.1:p.Ser284Cys
XR_001738918.2:n.1374A>T
XR_001738919.2:n.1308A>T
XR_002959334.1:n.1860A>T
XR_002959335.1:n.1504A>T
XR_241434.4:n.1338A>T
XR_923004.3:n.1631A>T
XR_923005.2:n.1374A>T
XR_923007.3:n.1341A>T
XR_923009.2:n.1237A>T
XR_923010.2:n.1671A>T
XR_923011.3:n.1442A>T
XR_923012.2:n.1376A>T
XR_923014.3:n.1013-4601A>T
NM_152783.5:c.1000A>T MANE Select	NP_689996.4:p.Ser334Cys
NM_001287249.2:c.598A>T	NP_001274178.1:p.Ser200Cys
NM_001352824.2:c.439A>T	NP_001339753.1:p.Ser147Cys
NR_109778.2:n.1012-4601A>T