Canonical Allele Identifier: CA351412935

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707140A>G (hg19) ; chr2:g.241767725A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767725A>G , CM000664.2:g.241767725A>G	GRCh38
NC_000002.11:g.242707140A>G , CM000664.1:g.242707140A>G	GRCh37
NC_000002.10:g.242355813A>G	NCBI36
NG_012012.1:g.38111A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1322A>G MANE Select	ENSP00000315351.4:p.His441Arg
ENST00000321264.8:c.1322A>G	ENSP00000315351.4:p.His441Arg
ENST00000400769.6:c.*72A>G	ENSP00000383580.2:n.*72A>G
ENST00000403782.5:c.920A>G	ENSP00000384723.1:p.His307Arg
ENST00000436747.5:c.*2558A>G	ENSP00000400212.1:n.*2558A>G
ENST00000445308.1:c.718A>G
ENST00000468064.5:n.1212A>G
ENST00000470343.5:n.803A>G
ENST00000473126.1:n.521A>G
ENST00000486953.5:n.1146A>G
ENST00000610344.1:c.*166A>G	ENSP00000481906.1:n.*166A>G
NM_001287249.1:c.920A>G	NP_001274178.1:p.His307Arg
NM_152783.4:c.1322A>G	NP_689996.4:p.His441Arg
NR_109778.1:n.1244A>G
XM_011511734.1:c.1442A>G	XP_011510036.1:p.His481Arg
XM_011511735.1:c.1400A>G	XP_011510037.1:p.His467Arg
XM_011511736.1:c.1364A>G	XP_011510038.1:p.His455Arg
XM_011511744.1:c.*54A>G	XP_011510046.1:n.*54A>G
XM_011511750.1:c.1234A>G	XP_011510052.1:p.Thr412Ala
XM_011511754.1:c.881A>G	XP_011510056.1:p.His294Arg
XM_011511755.1:c.872A>G	XP_011510057.1:p.His291Arg
XM_011511756.1:c.869A>G	XP_011510058.1:p.His290Arg
XR_923004.1:n.1954A>G
XR_923007.1:n.1664A>G
XR_923011.1:n.1765A>G
NM_001352824.1:c.761A>G	NP_001339753.1:p.His254Arg
XM_011511734.2:c.1442A>G	XP_011510036.1:p.His481Arg
XM_011511735.2:c.1400A>G	XP_011510037.1:p.His467Arg
XM_011511736.2:c.1364A>G	XP_011510038.1:p.His455Arg
XM_011511744.2:c.*54A>G	XP_011510046.1:n.*54A>G
XM_011511750.3:c.1234A>G	XP_011510052.1:p.Thr412Ala
XM_011511756.2:c.869A>G	XP_011510058.1:p.His290Arg
XM_024453102.1:c.1214A>G	XP_024308870.1:p.His405Arg
XR_001738918.2:n.1696A>G
XR_001738919.2:n.1630A>G
XR_923004.3:n.1953A>G
XR_923007.3:n.1663A>G
XR_923011.3:n.1764A>G
NM_152783.5:c.1322A>G MANE Select	NP_689996.4:p.His441Arg
NM_001287249.2:c.920A>G	NP_001274178.1:p.His307Arg
NM_001352824.2:c.761A>G	NP_001339753.1:p.His254Arg
NR_109778.2:n.1193A>G