Canonical Allele Identifier: CA351412937

Gene: D2HGDH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1322A>T MANE Select	ENSP00000315351.4:p.His441Leu
ENST00000321264.8:c.1322A>T	ENSP00000315351.4:p.His441Leu
ENST00000400769.6:c.*72A>T	ENSP00000383580.2:n.*72A>T
ENST00000403782.5:c.920A>T	ENSP00000384723.1:p.His307Leu
ENST00000436747.5:c.*2558A>T	ENSP00000400212.1:n.*2558A>T
ENST00000445308.1:c.718A>T
ENST00000468064.5:n.1212A>T
ENST00000470343.5:n.803A>T
ENST00000473126.1:n.521A>T
ENST00000486953.5:n.1146A>T
ENST00000610344.1:c.*166A>T	ENSP00000481906.1:n.*166A>T
NM_001287249.1:c.920A>T	NP_001274178.1:p.His307Leu
NM_152783.4:c.1322A>T	NP_689996.4:p.His441Leu
NR_109778.1:n.1244A>T
XM_011511734.1:c.1442A>T	XP_011510036.1:p.His481Leu
XM_011511735.1:c.1400A>T	XP_011510037.1:p.His467Leu
XM_011511736.1:c.1364A>T	XP_011510038.1:p.His455Leu
XM_011511744.1:c.*54A>T	XP_011510046.1:n.*54A>T
XM_011511750.1:c.1234A>T	XP_011510052.1:p.Thr412Ser
XM_011511754.1:c.881A>T	XP_011510056.1:p.His294Leu
XM_011511755.1:c.872A>T	XP_011510057.1:p.His291Leu
XM_011511756.1:c.869A>T	XP_011510058.1:p.His290Leu
XR_923004.1:n.1954A>T
XR_923007.1:n.1664A>T
XR_923011.1:n.1765A>T
NM_001352824.1:c.761A>T	NP_001339753.1:p.His254Leu
XM_011511734.2:c.1442A>T	XP_011510036.1:p.His481Leu
XM_011511735.2:c.1400A>T	XP_011510037.1:p.His467Leu
XM_011511736.2:c.1364A>T	XP_011510038.1:p.His455Leu
XM_011511744.2:c.*54A>T	XP_011510046.1:n.*54A>T
XM_011511750.3:c.1234A>T	XP_011510052.1:p.Thr412Ser
XM_011511756.2:c.869A>T	XP_011510058.1:p.His290Leu
XM_024453102.1:c.1214A>T	XP_024308870.1:p.His405Leu
XR_001738918.2:n.1696A>T
XR_001738919.2:n.1630A>T
XR_923004.3:n.1953A>T
XR_923007.3:n.1663A>T
XR_923011.3:n.1764A>T
NM_152783.5:c.1322A>T MANE Select	NP_689996.4:p.His441Leu
NM_001287249.2:c.920A>T	NP_001274178.1:p.His307Leu
NM_001352824.2:c.761A>T	NP_001339753.1:p.His254Leu
NR_109778.2:n.1193A>T