Canonical Allele Identifier: CA351413094

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707194C>G (hg19) ; chr2:g.241767779C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767779C>G , CM000664.2:g.241767779C>G	GRCh38
NC_000002.11:g.242707194C>G , CM000664.1:g.242707194C>G	GRCh37
NC_000002.10:g.242355867C>G	NCBI36
NG_012012.1:g.38165C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1376C>G MANE Select	ENSP00000315351.4:p.Pro459Arg
ENST00000321264.8:c.1376C>G	ENSP00000315351.4:p.Pro459Arg
ENST00000400769.6:c.*126C>G	ENSP00000383580.2:n.*126C>G
ENST00000403782.5:c.974C>G	ENSP00000384723.1:p.Pro325Arg
ENST00000436747.5:c.*2612C>G	ENSP00000400212.1:n.*2612C>G
ENST00000445308.1:c.772C>G
ENST00000468064.5:n.1266C>G
ENST00000470343.5:n.857C>G
ENST00000473126.1:n.575C>G
ENST00000486953.5:n.1200C>G
ENST00000610344.1:c.*220C>G	ENSP00000481906.1:n.*220C>G
NM_001287249.1:c.974C>G	NP_001274178.1:p.Pro325Arg
NM_152783.4:c.1376C>G	NP_689996.4:p.Pro459Arg
NR_109778.1:n.1298C>G
XM_011511734.1:c.1496C>G	XP_011510036.1:p.Pro499Arg
XM_011511735.1:c.1454C>G	XP_011510037.1:p.Pro485Arg
XM_011511736.1:c.1418C>G	XP_011510038.1:p.Pro473Arg
XM_011511744.1:c.*108C>G	XP_011510046.1:n.*108C>G
XM_011511750.1:c.*43C>G	XP_011510052.1:n.*43C>G
XM_011511754.1:c.935C>G	XP_011510056.1:p.Pro312Arg
XM_011511755.1:c.926C>G	XP_011510057.1:p.Pro309Arg
XM_011511756.1:c.923C>G	XP_011510058.1:p.Pro308Arg
XR_923004.1:n.2008C>G
XR_923007.1:n.1718C>G
XR_923011.1:n.1819C>G
NM_001352824.1:c.815C>G	NP_001339753.1:p.Pro272Arg
XM_011511734.2:c.1496C>G	XP_011510036.1:p.Pro499Arg
XM_011511735.2:c.1454C>G	XP_011510037.1:p.Pro485Arg
XM_011511736.2:c.1418C>G	XP_011510038.1:p.Pro473Arg
XM_011511744.2:c.*108C>G	XP_011510046.1:n.*108C>G
XM_011511750.3:c.*43C>G	XP_011510052.1:n.*43C>G
XM_011511756.2:c.923C>G	XP_011510058.1:p.Pro308Arg
XM_024453102.1:c.1268C>G	XP_024308870.1:p.Pro423Arg
XR_001738918.2:n.1750C>G
XR_001738919.2:n.1684C>G
XR_923004.3:n.2007C>G
XR_923007.3:n.1717C>G
XR_923011.3:n.1818C>G
NM_152783.5:c.1376C>G MANE Select	NP_689996.4:p.Pro459Arg
NM_001287249.2:c.974C>G	NP_001274178.1:p.Pro325Arg
NM_001352824.2:c.815C>G	NP_001339753.1:p.Pro272Arg
NR_109778.2:n.1247C>G