Canonical Allele Identifier: CA351408780

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690748T>G (hg19) ; chr2:g.241751333T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751333T>G , CM000664.2:g.241751333T>G	GRCh38
NC_000002.11:g.242690748T>G , CM000664.1:g.242690748T>G	GRCh37
NC_000002.10:g.242339421T>G	NCBI36
NG_012012.1:g.21719T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1085T>G MANE Select	ENSP00000315351.4:p.Leu362Arg
ENST00000321264.8:c.1085T>G	ENSP00000315351.4:p.Leu362Arg
ENST00000400769.6:c.854-4516T>G	ENSP00000383580.2:n.854-4516T>G
ENST00000403782.5:c.683T>G	ENSP00000384723.1:p.Leu228Arg
ENST00000432449.1:c.345T>G
ENST00000436747.5:c.*1401T>G	ENSP00000400212.1:n.*1401T>G
ENST00000454048.1:c.188T>G	ENSP00000404596.1:p.Leu63Arg
ENST00000467427.5:n.389+1039T>G
ENST00000470343.5:n.566T>G
ENST00000473126.1:n.284T>G
ENST00000486953.5:n.163+1039T>G
ENST00000496252.5:n.440T>G
NM_001287249.1:c.683T>G	NP_001274178.1:p.Leu228Arg
NM_152783.4:c.1085T>G	NP_689996.4:p.Leu362Arg
NR_109778.1:n.1063-4516T>G
XM_011511734.1:c.1163T>G	XP_011510036.1:p.Leu388Arg
XM_011511735.1:c.1163T>G	XP_011510037.1:p.Leu388Arg
XM_011511736.1:c.1085T>G	XP_011510038.1:p.Leu362Arg
XM_011511737.1:c.1163T>G	XP_011510039.1:p.Leu388Arg
XM_011511742.1:c.1300T>G	XP_011510044.1:p.Trp434Gly
XM_011511743.1:c.1300T>G	XP_011510045.1:p.Trp434Gly
XM_011511744.1:c.1300T>G	XP_011510046.1:p.Trp434Gly
XM_011511745.1:c.1163T>G	XP_011510047.1:p.Leu388Arg
XM_011511748.1:c.1234T>G	XP_011510050.1:p.Trp412Gly
XM_011511749.1:c.1179+1039T>G	XP_011510051.1:n.1179+1039T>G
XM_011511750.1:c.1163T>G	XP_011510052.1:p.Leu388Arg
XM_011511751.1:c.1212+754T>G	XP_011510053.1:n.1212+754T>G
XM_011511753.1:c.1075+1039T>G	XP_011510055.1:n.1075+1039T>G
XM_011511754.1:c.602T>G	XP_011510056.1:p.Leu201Arg
XM_011511755.1:c.593T>G	XP_011510057.1:p.Leu198Arg
XM_011511756.1:c.853+6456T>G	XP_011510058.1:n.853+6456T>G
XR_241434.3:n.1424T>G
XR_923003.1:n.1946T>G
XR_923004.1:n.1717T>G
XR_923005.1:n.1460T>G
XR_923006.1:n.1460T>G
XR_923007.1:n.1427T>G
XR_923008.1:n.1323T>G
XR_923009.1:n.1323T>G
XR_923010.1:n.1757T>G
XR_923011.1:n.1528T>G
XR_923012.1:n.1462T>G
XR_923014.1:n.1014-4516T>G
NM_001352824.1:c.524T>G	NP_001339753.1:p.Leu175Arg
XM_011511734.2:c.1163T>G	XP_011510036.1:p.Leu388Arg
XM_011511735.2:c.1163T>G	XP_011510037.1:p.Leu388Arg
XM_011511736.2:c.1085T>G	XP_011510038.1:p.Leu362Arg
XM_011511737.3:c.1163T>G	XP_011510039.1:p.Leu388Arg
XM_011511743.2:c.1300T>G	XP_011510045.1:p.Trp434Gly
XM_011511744.2:c.1300T>G	XP_011510046.1:p.Trp434Gly
XM_011511745.3:c.1163T>G	XP_011510047.1:p.Leu388Arg
XM_011511749.3:c.1179+1039T>G	XP_011510051.1:n.1179+1039T>G
XM_011511750.3:c.1163T>G	XP_011510052.1:p.Leu388Arg
XM_011511751.2:c.1212+754T>G	XP_011510053.1:n.1212+754T>G
XM_011511753.3:c.1075+1039T>G	XP_011510055.1:n.1075+1039T>G
XM_011511756.2:c.853+6456T>G	XP_011510058.1:n.853+6456T>G
XM_017004828.2:c.1085T>G	XP_016860317.1:p.Leu362Arg
XM_017004829.2:c.1300T>G	XP_016860318.1:p.Trp434Gly
XM_017004830.2:c.1163T>G	XP_016860319.1:p.Leu388Arg
XM_024453102.1:c.935T>G	XP_024308870.1:p.Leu312Arg
XR_001738918.2:n.1459T>G
XR_001738919.2:n.1393T>G
XR_002959334.1:n.1945T>G
XR_002959335.1:n.1589T>G
XR_241434.4:n.1423T>G
XR_923004.3:n.1716T>G
XR_923005.2:n.1459T>G
XR_923007.3:n.1426T>G
XR_923009.2:n.1322T>G
XR_923010.2:n.1756T>G
XR_923011.3:n.1527T>G
XR_923012.2:n.1461T>G
XR_923014.3:n.1013-4516T>G
NM_152783.5:c.1085T>G MANE Select	NP_689996.4:p.Leu362Arg
NM_001287249.2:c.683T>G	NP_001274178.1:p.Leu228Arg
NM_001352824.2:c.524T>G	NP_001339753.1:p.Leu175Arg
NR_109778.2:n.1012-4516T>G