Canonical Allele Identifier: CA351413140

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707215C>A (hg19) ; chr2:g.241767800C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767800C>A , CM000664.2:g.241767800C>A	GRCh38
NC_000002.11:g.242707215C>A , CM000664.1:g.242707215C>A	GRCh37
NC_000002.10:g.242355888C>A	NCBI36
NG_012012.1:g.38186C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1397C>A MANE Select	ENSP00000315351.4:p.Ala466Asp
ENST00000321264.8:c.1397C>A	ENSP00000315351.4:p.Ala466Asp
ENST00000400769.6:c.*147C>A	ENSP00000383580.2:n.*147C>A
ENST00000403782.5:c.995C>A	ENSP00000384723.1:p.Ala332Asp
ENST00000436747.5:c.*2633C>A	ENSP00000400212.1:n.*2633C>A
ENST00000445308.1:c.793C>A
ENST00000468064.5:n.1287C>A
ENST00000470343.5:n.878C>A
ENST00000473126.1:n.596C>A
ENST00000486953.5:n.1221C>A
ENST00000610344.1:c.*241C>A	ENSP00000481906.1:n.*241C>A
NM_001287249.1:c.995C>A	NP_001274178.1:p.Ala332Asp
NM_152783.4:c.1397C>A	NP_689996.4:p.Ala466Asp
NR_109778.1:n.1319C>A
XM_011511734.1:c.1517C>A	XP_011510036.1:p.Ala506Asp
XM_011511735.1:c.1475C>A	XP_011510037.1:p.Ala492Asp
XM_011511736.1:c.1439C>A	XP_011510038.1:p.Ala480Asp
XM_011511750.1:c.*64C>A	XP_011510052.1:n.*64C>A
XM_011511754.1:c.956C>A	XP_011510056.1:p.Ala319Asp
XM_011511755.1:c.947C>A	XP_011510057.1:p.Ala316Asp
XM_011511756.1:c.944C>A	XP_011510058.1:p.Ala315Asp
XR_923004.1:n.2029C>A
XR_923007.1:n.1739C>A
XR_923011.1:n.1840C>A
NM_001352824.1:c.836C>A	NP_001339753.1:p.Ala279Asp
XM_011511734.2:c.1517C>A	XP_011510036.1:p.Ala506Asp
XM_011511735.2:c.1475C>A	XP_011510037.1:p.Ala492Asp
XM_011511736.2:c.1439C>A	XP_011510038.1:p.Ala480Asp
XM_011511750.3:c.*64C>A	XP_011510052.1:n.*64C>A
XM_011511756.2:c.944C>A	XP_011510058.1:p.Ala315Asp
XM_024453102.1:c.1289C>A	XP_024308870.1:p.Ala430Asp
XR_001738918.2:n.1771C>A
XR_001738919.2:n.1705C>A
XR_923004.3:n.2028C>A
XR_923007.3:n.1738C>A
XR_923011.3:n.1839C>A
NM_152783.5:c.1397C>A MANE Select	NP_689996.4:p.Ala466Asp
NM_001287249.2:c.995C>A	NP_001274178.1:p.Ala332Asp
NM_001352824.2:c.836C>A	NP_001339753.1:p.Ala279Asp
NR_109778.2:n.1268C>A