Canonical Allele Identifier: CA432078937

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707144C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767729C>G , CM000664.2:g.241767729C>G	GRCh38
NC_000002.11:g.242707144C>G , CM000664.1:g.242707144C>G	GRCh37
NC_000002.10:g.242355817C>G	NCBI36
NG_012012.1:g.38115C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1326C>G MANE Select	ENSP00000315351.4:p.Leu442=
ENST00000321264.8:c.1326C>G	ENSP00000315351.4:p.Leu442=
ENST00000400769.6:c.*76C>G	ENSP00000383580.2:n.*76C>G
ENST00000403782.5:c.924C>G	ENSP00000384723.1:p.Leu308=
ENST00000436747.5:c.*2562C>G	ENSP00000400212.1:n.*2562C>G
ENST00000445308.1:c.722C>G
ENST00000468064.5:n.1216C>G
ENST00000470343.5:n.807C>G
ENST00000473126.1:n.525C>G
ENST00000486953.5:n.1150C>G
ENST00000610344.1:c.*170C>G	ENSP00000481906.1:n.*170C>G
NM_001287249.1:c.924C>G	NP_001274178.1:p.Leu308=
NM_152783.4:c.1326C>G	NP_689996.4:p.Leu442=
NR_109778.1:n.1248C>G
XM_011511734.1:c.1446C>G	XP_011510036.1:p.Leu482=
XM_011511735.1:c.1404C>G	XP_011510037.1:p.Leu468=
XM_011511736.1:c.1368C>G	XP_011510038.1:p.Leu456=
XM_011511744.1:c.*58C>G	XP_011510046.1:n.*58C>G
XM_011511750.1:c.1238C>G	XP_011510052.1:p.Ser413Ter
XM_011511754.1:c.885C>G	XP_011510056.1:p.Leu295=
XM_011511755.1:c.876C>G	XP_011510057.1:p.Leu292=
XM_011511756.1:c.873C>G	XP_011510058.1:p.Leu291=
XR_923004.1:n.1958C>G
XR_923007.1:n.1668C>G
XR_923011.1:n.1769C>G
NM_001352824.1:c.765C>G	NP_001339753.1:p.Leu255=
XM_011511734.2:c.1446C>G	XP_011510036.1:p.Leu482=
XM_011511735.2:c.1404C>G	XP_011510037.1:p.Leu468=
XM_011511736.2:c.1368C>G	XP_011510038.1:p.Leu456=
XM_011511744.2:c.*58C>G	XP_011510046.1:n.*58C>G
XM_011511750.3:c.1238C>G	XP_011510052.1:p.Ser413Ter
XM_011511756.2:c.873C>G	XP_011510058.1:p.Leu291=
XM_024453102.1:c.1218C>G	XP_024308870.1:p.Leu406=
XR_001738918.2:n.1700C>G
XR_001738919.2:n.1634C>G
XR_923004.3:n.1957C>G
XR_923007.3:n.1667C>G
XR_923011.3:n.1768C>G
NM_152783.5:c.1326C>G MANE Select	NP_689996.4:p.Leu442=
NM_001287249.2:c.924C>G	NP_001274178.1:p.Leu308=
NM_001352824.2:c.765C>G	NP_001339753.1:p.Leu255=
NR_109778.2:n.1197C>G