Canonical Allele Identifier: CA351408890

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690802A>T (hg19) ; chr2:g.241751387A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751387A>T , CM000664.2:g.241751387A>T	GRCh38
NC_000002.11:g.242690802A>T , CM000664.1:g.242690802A>T	GRCh37
NC_000002.10:g.242339475A>T	NCBI36
NG_012012.1:g.21773A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1139A>T MANE Select	ENSP00000315351.4:p.Lys380Met
ENST00000321264.8:c.1139A>T	ENSP00000315351.4:p.Lys380Met
ENST00000400769.6:c.854-4462A>T	ENSP00000383580.2:n.854-4462A>T
ENST00000403782.5:c.737A>T	ENSP00000384723.1:p.Lys246Met
ENST00000432449.1:c.399A>T
ENST00000436747.5:c.*1455A>T	ENSP00000400212.1:n.*1455A>T
ENST00000467427.5:n.389+1093A>T
ENST00000470343.5:n.620A>T
ENST00000473126.1:n.338A>T
ENST00000486953.5:n.163+1093A>T
ENST00000496252.5:n.494A>T
NM_001287249.1:c.737A>T	NP_001274178.1:p.Lys246Met
NM_152783.4:c.1139A>T	NP_689996.4:p.Lys380Met
NR_109778.1:n.1063-4462A>T
XM_011511734.1:c.1217A>T	XP_011510036.1:p.Lys406Met
XM_011511735.1:c.1217A>T	XP_011510037.1:p.Lys406Met
XM_011511736.1:c.1139A>T	XP_011510038.1:p.Lys380Met
XM_011511737.1:c.1217A>T	XP_011510039.1:p.Lys406Met
XM_011511742.1:c.*37A>T	XP_011510044.1:n.*37A>T
XM_011511743.1:c.*37A>T	XP_011510045.1:n.*37A>T
XM_011511744.1:c.*37A>T	XP_011510046.1:n.*37A>T
XM_011511745.1:c.1217A>T	XP_011510047.1:p.Lys406Met
XM_011511748.1:c.*37A>T	XP_011510050.1:n.*37A>T
XM_011511749.1:c.1179+1093A>T	XP_011510051.1:n.1179+1093A>T
XM_011511750.1:c.1217A>T	XP_011510052.1:p.Lys406Met
XM_011511751.1:c.1212+808A>T	XP_011510053.1:n.1212+808A>T
XM_011511753.1:c.1075+1093A>T	XP_011510055.1:n.1075+1093A>T
XM_011511754.1:c.656A>T	XP_011510056.1:p.Lys219Met
XM_011511755.1:c.647A>T	XP_011510057.1:p.Lys216Met
XM_011511756.1:c.853+6510A>T	XP_011510058.1:n.853+6510A>T
XR_241434.3:n.1478A>T
XR_923003.1:n.2000A>T
XR_923004.1:n.1771A>T
XR_923005.1:n.1514A>T
XR_923006.1:n.1514A>T
XR_923007.1:n.1481A>T
XR_923008.1:n.1377A>T
XR_923009.1:n.1377A>T
XR_923010.1:n.1811A>T
XR_923011.1:n.1582A>T
XR_923012.1:n.1516A>T
XR_923014.1:n.1014-4462A>T
NM_001352824.1:c.578A>T	NP_001339753.1:p.Lys193Met
XM_011511734.2:c.1217A>T	XP_011510036.1:p.Lys406Met
XM_011511735.2:c.1217A>T	XP_011510037.1:p.Lys406Met
XM_011511736.2:c.1139A>T	XP_011510038.1:p.Lys380Met
XM_011511737.3:c.1217A>T	XP_011510039.1:p.Lys406Met
XM_011511743.2:c.*37A>T	XP_011510045.1:n.*37A>T
XM_011511744.2:c.*37A>T	XP_011510046.1:n.*37A>T
XM_011511745.3:c.1217A>T	XP_011510047.1:p.Lys406Met
XM_011511749.3:c.1179+1093A>T	XP_011510051.1:n.1179+1093A>T
XM_011511750.3:c.1217A>T	XP_011510052.1:p.Lys406Met
XM_011511751.2:c.1212+808A>T	XP_011510053.1:n.1212+808A>T
XM_011511753.3:c.1075+1093A>T	XP_011510055.1:n.1075+1093A>T
XM_011511756.2:c.853+6510A>T	XP_011510058.1:n.853+6510A>T
XM_017004828.2:c.1139A>T	XP_016860317.1:p.Lys380Met
XM_017004829.2:c.*37A>T	XP_016860318.1:n.*37A>T
XM_017004830.2:c.1217A>T	XP_016860319.1:p.Lys406Met
XM_024453102.1:c.989A>T	XP_024308870.1:p.Lys330Met
XR_001738918.2:n.1513A>T
XR_001738919.2:n.1447A>T
XR_002959334.1:n.1999A>T
XR_002959335.1:n.1643A>T
XR_241434.4:n.1477A>T
XR_923004.3:n.1770A>T
XR_923005.2:n.1513A>T
XR_923007.3:n.1480A>T
XR_923009.2:n.1376A>T
XR_923010.2:n.1810A>T
XR_923011.3:n.1581A>T
XR_923012.2:n.1515A>T
XR_923014.3:n.1013-4462A>T
NM_152783.5:c.1139A>T MANE Select	NP_689996.4:p.Lys380Met
NM_001287249.2:c.737A>T	NP_001274178.1:p.Lys246Met
NM_001352824.2:c.578A>T	NP_001339753.1:p.Lys193Met
NR_109778.2:n.1012-4462A>T