Canonical Allele Identifier: CA351408735

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690726G>T (hg19) ; chr2:g.241751311G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751311G>T , CM000664.2:g.241751311G>T	GRCh38
NC_000002.11:g.242690726G>T , CM000664.1:g.242690726G>T	GRCh37
NC_000002.10:g.242339399G>T	NCBI36
NG_012012.1:g.21697G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1063G>T MANE Select	ENSP00000315351.4:p.Gly355Cys
ENST00000321264.8:c.1063G>T	ENSP00000315351.4:p.Gly355Cys
ENST00000400769.6:c.854-4538G>T	ENSP00000383580.2:n.854-4538G>T
ENST00000403782.5:c.661G>T	ENSP00000384723.1:p.Gly221Cys
ENST00000432449.1:c.323G>T
ENST00000436747.5:c.*1379G>T	ENSP00000400212.1:n.*1379G>T
ENST00000454048.1:c.166G>T	ENSP00000404596.1:p.Gly56Cys
ENST00000467427.5:n.389+1017G>T
ENST00000470343.5:n.544G>T
ENST00000473126.1:n.262G>T
ENST00000486953.5:n.163+1017G>T
ENST00000496252.5:n.418G>T
NM_001287249.1:c.661G>T	NP_001274178.1:p.Gly221Cys
NM_152783.4:c.1063G>T	NP_689996.4:p.Gly355Cys
NR_109778.1:n.1063-4538G>T
XM_011511734.1:c.1141G>T	XP_011510036.1:p.Gly381Cys
XM_011511735.1:c.1141G>T	XP_011510037.1:p.Gly381Cys
XM_011511736.1:c.1063G>T	XP_011510038.1:p.Gly355Cys
XM_011511737.1:c.1141G>T	XP_011510039.1:p.Gly381Cys
XM_011511742.1:c.1278G>T	XP_011510044.1:p.Trp426Cys
XM_011511743.1:c.1278G>T	XP_011510045.1:p.Trp426Cys
XM_011511744.1:c.1278G>T	XP_011510046.1:p.Trp426Cys
XM_011511745.1:c.1141G>T	XP_011510047.1:p.Gly381Cys
XM_011511748.1:c.1212G>T	XP_011510050.1:p.Trp404Cys
XM_011511749.1:c.1179+1017G>T	XP_011510051.1:n.1179+1017G>T
XM_011511750.1:c.1141G>T	XP_011510052.1:p.Gly381Cys
XM_011511751.1:c.1212+732G>T	XP_011510053.1:n.1212+732G>T
XM_011511753.1:c.1075+1017G>T	XP_011510055.1:n.1075+1017G>T
XM_011511754.1:c.580G>T	XP_011510056.1:p.Gly194Cys
XM_011511755.1:c.571G>T	XP_011510057.1:p.Gly191Cys
XM_011511756.1:c.853+6434G>T	XP_011510058.1:n.853+6434G>T
XM_011511757.1:c.*79G>T	XP_011510059.1:n.*79G>T
XR_241434.3:n.1402G>T
XR_923003.1:n.1924G>T
XR_923004.1:n.1695G>T
XR_923005.1:n.1438G>T
XR_923006.1:n.1438G>T
XR_923007.1:n.1405G>T
XR_923008.1:n.1301G>T
XR_923009.1:n.1301G>T
XR_923010.1:n.1735G>T
XR_923011.1:n.1506G>T
XR_923012.1:n.1440G>T
XR_923014.1:n.1014-4538G>T
NM_001352824.1:c.502G>T	NP_001339753.1:p.Gly168Cys
XM_011511734.2:c.1141G>T	XP_011510036.1:p.Gly381Cys
XM_011511735.2:c.1141G>T	XP_011510037.1:p.Gly381Cys
XM_011511736.2:c.1063G>T	XP_011510038.1:p.Gly355Cys
XM_011511737.3:c.1141G>T	XP_011510039.1:p.Gly381Cys
XM_011511743.2:c.1278G>T	XP_011510045.1:p.Trp426Cys
XM_011511744.2:c.1278G>T	XP_011510046.1:p.Trp426Cys
XM_011511745.3:c.1141G>T	XP_011510047.1:p.Gly381Cys
XM_011511749.3:c.1179+1017G>T	XP_011510051.1:n.1179+1017G>T
XM_011511750.3:c.1141G>T	XP_011510052.1:p.Gly381Cys
XM_011511751.2:c.1212+732G>T	XP_011510053.1:n.1212+732G>T
XM_011511753.3:c.1075+1017G>T	XP_011510055.1:n.1075+1017G>T
XM_011511756.2:c.853+6434G>T	XP_011510058.1:n.853+6434G>T
XM_017004828.2:c.1063G>T	XP_016860317.1:p.Gly355Cys
XM_017004829.2:c.1278G>T	XP_016860318.1:p.Trp426Cys
XM_017004830.2:c.1141G>T	XP_016860319.1:p.Gly381Cys
XM_024453102.1:c.913G>T	XP_024308870.1:p.Gly305Cys
XR_001738918.2:n.1437G>T
XR_001738919.2:n.1371G>T
XR_002959334.1:n.1923G>T
XR_002959335.1:n.1567G>T
XR_241434.4:n.1401G>T
XR_923004.3:n.1694G>T
XR_923005.2:n.1437G>T
XR_923007.3:n.1404G>T
XR_923009.2:n.1300G>T
XR_923010.2:n.1734G>T
XR_923011.3:n.1505G>T
XR_923012.2:n.1439G>T
XR_923014.3:n.1013-4538G>T
NM_152783.5:c.1063G>T MANE Select	NP_689996.4:p.Gly355Cys
NM_001287249.2:c.661G>T	NP_001274178.1:p.Gly221Cys
NM_001352824.2:c.502G>T	NP_001339753.1:p.Gly168Cys
NR_109778.2:n.1012-4538G>T