Canonical Allele Identifier: CA351412933

Gene: D2HGDH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1322A>C MANE Select	ENSP00000315351.4:p.His441Pro
ENST00000321264.8:c.1322A>C	ENSP00000315351.4:p.His441Pro
ENST00000400769.6:c.*72A>C	ENSP00000383580.2:n.*72A>C
ENST00000403782.5:c.920A>C	ENSP00000384723.1:p.His307Pro
ENST00000436747.5:c.*2558A>C	ENSP00000400212.1:n.*2558A>C
ENST00000445308.1:c.718A>C
ENST00000468064.5:n.1212A>C
ENST00000470343.5:n.803A>C
ENST00000473126.1:n.521A>C
ENST00000486953.5:n.1146A>C
ENST00000610344.1:c.*166A>C	ENSP00000481906.1:n.*166A>C
NM_001287249.1:c.920A>C	NP_001274178.1:p.His307Pro
NM_152783.4:c.1322A>C	NP_689996.4:p.His441Pro
NR_109778.1:n.1244A>C
XM_011511734.1:c.1442A>C	XP_011510036.1:p.His481Pro
XM_011511735.1:c.1400A>C	XP_011510037.1:p.His467Pro
XM_011511736.1:c.1364A>C	XP_011510038.1:p.His455Pro
XM_011511744.1:c.*54A>C	XP_011510046.1:n.*54A>C
XM_011511750.1:c.1234A>C	XP_011510052.1:p.Thr412Pro
XM_011511754.1:c.881A>C	XP_011510056.1:p.His294Pro
XM_011511755.1:c.872A>C	XP_011510057.1:p.His291Pro
XM_011511756.1:c.869A>C	XP_011510058.1:p.His290Pro
XR_923004.1:n.1954A>C
XR_923007.1:n.1664A>C
XR_923011.1:n.1765A>C
NM_001352824.1:c.761A>C	NP_001339753.1:p.His254Pro
XM_011511734.2:c.1442A>C	XP_011510036.1:p.His481Pro
XM_011511735.2:c.1400A>C	XP_011510037.1:p.His467Pro
XM_011511736.2:c.1364A>C	XP_011510038.1:p.His455Pro
XM_011511744.2:c.*54A>C	XP_011510046.1:n.*54A>C
XM_011511750.3:c.1234A>C	XP_011510052.1:p.Thr412Pro
XM_011511756.2:c.869A>C	XP_011510058.1:p.His290Pro
XM_024453102.1:c.1214A>C	XP_024308870.1:p.His405Pro
XR_001738918.2:n.1696A>C
XR_001738919.2:n.1630A>C
XR_923004.3:n.1953A>C
XR_923007.3:n.1663A>C
XR_923011.3:n.1764A>C
NM_152783.5:c.1322A>C MANE Select	NP_689996.4:p.His441Pro
NM_001287249.2:c.920A>C	NP_001274178.1:p.His307Pro
NM_001352824.2:c.761A>C	NP_001339753.1:p.His254Pro
NR_109778.2:n.1193A>C