Canonical Allele Identifier: CA351413374

Gene: D2HGDH

Linked Data

• COSMIC: COSM3580148
• MyVariant Identifiers: chr2:g.242707241G>A (hg19) ; chr2:g.241767826G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767826G>A , CM000664.2:g.241767826G>A	GRCh38
NC_000002.11:g.242707241G>A , CM000664.1:g.242707241G>A	GRCh37
NC_000002.10:g.242355914G>A	NCBI36
NG_012012.1:g.38212G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1423G>A MANE Select	ENSP00000315351.4:p.Glu475Lys
ENST00000321264.8:c.1423G>A	ENSP00000315351.4:p.Glu475Lys
ENST00000400769.6:c.*173G>A	ENSP00000383580.2:n.*173G>A
ENST00000403782.5:c.1021G>A	ENSP00000384723.1:p.Glu341Lys
ENST00000436747.5:c.*2659G>A	ENSP00000400212.1:n.*2659G>A
ENST00000445308.1:c.819G>A
ENST00000468064.5:n.1313G>A
ENST00000470343.5:n.904G>A
ENST00000473126.1:n.622G>A
ENST00000486953.5:n.1247G>A
ENST00000610344.1:c.*267G>A	ENSP00000481906.1:n.*267G>A
NM_001287249.1:c.1021G>A	NP_001274178.1:p.Glu341Lys
NM_152783.4:c.1423G>A	NP_689996.4:p.Glu475Lys
NR_109778.1:n.1345G>A
XM_011511734.1:c.1543G>A	XP_011510036.1:p.Glu515Lys
XM_011511735.1:c.1501G>A	XP_011510037.1:p.Glu501Lys
XM_011511736.1:c.1465G>A	XP_011510038.1:p.Glu489Lys
XM_011511750.1:c.*90G>A	XP_011510052.1:n.*90G>A
XM_011511754.1:c.982G>A	XP_011510056.1:p.Glu328Lys
XM_011511755.1:c.973G>A	XP_011510057.1:p.Glu325Lys
XM_011511756.1:c.970G>A	XP_011510058.1:p.Glu324Lys
XR_923004.1:n.2055G>A
XR_923007.1:n.1765G>A
XR_923011.1:n.1866G>A
NM_001352824.1:c.862G>A	NP_001339753.1:p.Glu288Lys
XM_011511734.2:c.1543G>A	XP_011510036.1:p.Glu515Lys
XM_011511735.2:c.1501G>A	XP_011510037.1:p.Glu501Lys
XM_011511736.2:c.1465G>A	XP_011510038.1:p.Glu489Lys
XM_011511750.3:c.*90G>A	XP_011510052.1:n.*90G>A
XM_011511756.2:c.970G>A	XP_011510058.1:p.Glu324Lys
XM_024453102.1:c.1315G>A	XP_024308870.1:p.Glu439Lys
XR_001738918.2:n.1797G>A
XR_001738919.2:n.1731G>A
XR_923004.3:n.2054G>A
XR_923007.3:n.1764G>A
XR_923011.3:n.1865G>A
NM_152783.5:c.1423G>A MANE Select	NP_689996.4:p.Glu475Lys
NM_001287249.2:c.1021G>A	NP_001274178.1:p.Glu341Lys
NM_001352824.2:c.862G>A	NP_001339753.1:p.Glu288Lys
NR_109778.2:n.1294G>A