Canonical Allele Identifier: CA351408754

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690736T>A (hg19) ; chr2:g.241751321T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751321T>A , CM000664.2:g.241751321T>A	GRCh38
NC_000002.11:g.242690736T>A , CM000664.1:g.242690736T>A	GRCh37
NC_000002.10:g.242339409T>A	NCBI36
NG_012012.1:g.21707T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1073T>A MANE Select	ENSP00000315351.4:p.Leu358Gln
ENST00000321264.8:c.1073T>A	ENSP00000315351.4:p.Leu358Gln
ENST00000400769.6:c.854-4528T>A	ENSP00000383580.2:n.854-4528T>A
ENST00000403782.5:c.671T>A	ENSP00000384723.1:p.Leu224Gln
ENST00000432449.1:c.333T>A
ENST00000436747.5:c.*1389T>A	ENSP00000400212.1:n.*1389T>A
ENST00000454048.1:c.176T>A	ENSP00000404596.1:p.Leu59Gln
ENST00000467427.5:n.389+1027T>A
ENST00000470343.5:n.554T>A
ENST00000473126.1:n.272T>A
ENST00000486953.5:n.163+1027T>A
ENST00000496252.5:n.428T>A
NM_001287249.1:c.671T>A	NP_001274178.1:p.Leu224Gln
NM_152783.4:c.1073T>A	NP_689996.4:p.Leu358Gln
NR_109778.1:n.1063-4528T>A
XM_011511734.1:c.1151T>A	XP_011510036.1:p.Leu384Gln
XM_011511735.1:c.1151T>A	XP_011510037.1:p.Leu384Gln
XM_011511736.1:c.1073T>A	XP_011510038.1:p.Leu358Gln
XM_011511737.1:c.1151T>A	XP_011510039.1:p.Leu384Gln
XM_011511742.1:c.1288T>A	XP_011510044.1:p.Trp430Arg
XM_011511743.1:c.1288T>A	XP_011510045.1:p.Trp430Arg
XM_011511744.1:c.1288T>A	XP_011510046.1:p.Trp430Arg
XM_011511745.1:c.1151T>A	XP_011510047.1:p.Leu384Gln
XM_011511748.1:c.1222T>A	XP_011510050.1:p.Trp408Arg
XM_011511749.1:c.1179+1027T>A	XP_011510051.1:n.1179+1027T>A
XM_011511750.1:c.1151T>A	XP_011510052.1:p.Leu384Gln
XM_011511751.1:c.1212+742T>A	XP_011510053.1:n.1212+742T>A
XM_011511753.1:c.1075+1027T>A	XP_011510055.1:n.1075+1027T>A
XM_011511754.1:c.590T>A	XP_011510056.1:p.Leu197Gln
XM_011511755.1:c.581T>A	XP_011510057.1:p.Leu194Gln
XM_011511756.1:c.853+6444T>A	XP_011510058.1:n.853+6444T>A
XM_011511757.1:c.*89T>A	XP_011510059.1:n.*89T>A
XR_241434.3:n.1412T>A
XR_923003.1:n.1934T>A
XR_923004.1:n.1705T>A
XR_923005.1:n.1448T>A
XR_923006.1:n.1448T>A
XR_923007.1:n.1415T>A
XR_923008.1:n.1311T>A
XR_923009.1:n.1311T>A
XR_923010.1:n.1745T>A
XR_923011.1:n.1516T>A
XR_923012.1:n.1450T>A
XR_923014.1:n.1014-4528T>A
NM_001352824.1:c.512T>A	NP_001339753.1:p.Leu171Gln
XM_011511734.2:c.1151T>A	XP_011510036.1:p.Leu384Gln
XM_011511735.2:c.1151T>A	XP_011510037.1:p.Leu384Gln
XM_011511736.2:c.1073T>A	XP_011510038.1:p.Leu358Gln
XM_011511737.3:c.1151T>A	XP_011510039.1:p.Leu384Gln
XM_011511743.2:c.1288T>A	XP_011510045.1:p.Trp430Arg
XM_011511744.2:c.1288T>A	XP_011510046.1:p.Trp430Arg
XM_011511745.3:c.1151T>A	XP_011510047.1:p.Leu384Gln
XM_011511749.3:c.1179+1027T>A	XP_011510051.1:n.1179+1027T>A
XM_011511750.3:c.1151T>A	XP_011510052.1:p.Leu384Gln
XM_011511751.2:c.1212+742T>A	XP_011510053.1:n.1212+742T>A
XM_011511753.3:c.1075+1027T>A	XP_011510055.1:n.1075+1027T>A
XM_011511756.2:c.853+6444T>A	XP_011510058.1:n.853+6444T>A
XM_017004828.2:c.1073T>A	XP_016860317.1:p.Leu358Gln
XM_017004829.2:c.1288T>A	XP_016860318.1:p.Trp430Arg
XM_017004830.2:c.1151T>A	XP_016860319.1:p.Leu384Gln
XM_024453102.1:c.923T>A	XP_024308870.1:p.Leu308Gln
XR_001738918.2:n.1447T>A
XR_001738919.2:n.1381T>A
XR_002959334.1:n.1933T>A
XR_002959335.1:n.1577T>A
XR_241434.4:n.1411T>A
XR_923004.3:n.1704T>A
XR_923005.2:n.1447T>A
XR_923007.3:n.1414T>A
XR_923009.2:n.1310T>A
XR_923010.2:n.1744T>A
XR_923011.3:n.1515T>A
XR_923012.2:n.1449T>A
XR_923014.3:n.1013-4528T>A
NM_152783.5:c.1073T>A MANE Select	NP_689996.4:p.Leu358Gln
NM_001287249.2:c.671T>A	NP_001274178.1:p.Leu224Gln
NM_001352824.2:c.512T>A	NP_001339753.1:p.Leu171Gln
NR_109778.2:n.1012-4528T>A