Canonical Allele Identifier: CA432079082

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707195C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767780C>G , CM000664.2:g.241767780C>G	GRCh38
NC_000002.11:g.242707195C>G , CM000664.1:g.242707195C>G	GRCh37
NC_000002.10:g.242355868C>G	NCBI36
NG_012012.1:g.38166C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1377C>G MANE Select	ENSP00000315351.4:p.Pro459=
ENST00000321264.8:c.1377C>G	ENSP00000315351.4:p.Pro459=
ENST00000400769.6:c.*127C>G	ENSP00000383580.2:n.*127C>G
ENST00000403782.5:c.975C>G	ENSP00000384723.1:p.Pro325=
ENST00000436747.5:c.*2613C>G	ENSP00000400212.1:n.*2613C>G
ENST00000445308.1:c.773C>G
ENST00000468064.5:n.1267C>G
ENST00000470343.5:n.858C>G
ENST00000473126.1:n.576C>G
ENST00000486953.5:n.1201C>G
ENST00000610344.1:c.*221C>G	ENSP00000481906.1:n.*221C>G
NM_001287249.1:c.975C>G	NP_001274178.1:p.Pro325=
NM_152783.4:c.1377C>G	NP_689996.4:p.Pro459=
NR_109778.1:n.1299C>G
XM_011511734.1:c.1497C>G	XP_011510036.1:p.Pro499=
XM_011511735.1:c.1455C>G	XP_011510037.1:p.Pro485=
XM_011511736.1:c.1419C>G	XP_011510038.1:p.Pro473=
XM_011511744.1:c.*109C>G	XP_011510046.1:n.*109C>G
XM_011511750.1:c.*44C>G	XP_011510052.1:n.*44C>G
XM_011511754.1:c.936C>G	XP_011510056.1:p.Pro312=
XM_011511755.1:c.927C>G	XP_011510057.1:p.Pro309=
XM_011511756.1:c.924C>G	XP_011510058.1:p.Pro308=
XR_923004.1:n.2009C>G
XR_923007.1:n.1719C>G
XR_923011.1:n.1820C>G
NM_001352824.1:c.816C>G	NP_001339753.1:p.Pro272=
XM_011511734.2:c.1497C>G	XP_011510036.1:p.Pro499=
XM_011511735.2:c.1455C>G	XP_011510037.1:p.Pro485=
XM_011511736.2:c.1419C>G	XP_011510038.1:p.Pro473=
XM_011511744.2:c.*109C>G	XP_011510046.1:n.*109C>G
XM_011511750.3:c.*44C>G	XP_011510052.1:n.*44C>G
XM_011511756.2:c.924C>G	XP_011510058.1:p.Pro308=
XM_024453102.1:c.1269C>G	XP_024308870.1:p.Pro423=
XR_001738918.2:n.1751C>G
XR_001738919.2:n.1685C>G
XR_923004.3:n.2008C>G
XR_923007.3:n.1718C>G
XR_923011.3:n.1819C>G
NM_152783.5:c.1377C>G MANE Select	NP_689996.4:p.Pro459=
NM_001287249.2:c.975C>G	NP_001274178.1:p.Pro325=
NM_001352824.2:c.816C>G	NP_001339753.1:p.Pro272=
NR_109778.2:n.1248C>G