Canonical Allele Identifier: CA351413288

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707227G>A (hg19) ; chr2:g.241767812G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767812G>A , CM000664.2:g.241767812G>A	GRCh38
NC_000002.11:g.242707227G>A , CM000664.1:g.242707227G>A	GRCh37
NC_000002.10:g.242355900G>A	NCBI36
NG_012012.1:g.38198G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1409G>A MANE Select	ENSP00000315351.4:p.Gly470Asp
ENST00000321264.8:c.1409G>A	ENSP00000315351.4:p.Gly470Asp
ENST00000400769.6:c.*159G>A	ENSP00000383580.2:n.*159G>A
ENST00000403782.5:c.1007G>A	ENSP00000384723.1:p.Gly336Asp
ENST00000436747.5:c.*2645G>A	ENSP00000400212.1:n.*2645G>A
ENST00000445308.1:c.805G>A
ENST00000468064.5:n.1299G>A
ENST00000470343.5:n.890G>A
ENST00000473126.1:n.608G>A
ENST00000486953.5:n.1233G>A
ENST00000610344.1:c.*253G>A	ENSP00000481906.1:n.*253G>A
NM_001287249.1:c.1007G>A	NP_001274178.1:p.Gly336Asp
NM_152783.4:c.1409G>A	NP_689996.4:p.Gly470Asp
NR_109778.1:n.1331G>A
XM_011511734.1:c.1529G>A	XP_011510036.1:p.Gly510Asp
XM_011511735.1:c.1487G>A	XP_011510037.1:p.Gly496Asp
XM_011511736.1:c.1451G>A	XP_011510038.1:p.Gly484Asp
XM_011511750.1:c.*76G>A	XP_011510052.1:n.*76G>A
XM_011511754.1:c.968G>A	XP_011510056.1:p.Gly323Asp
XM_011511755.1:c.959G>A	XP_011510057.1:p.Gly320Asp
XM_011511756.1:c.956G>A	XP_011510058.1:p.Gly319Asp
XR_923004.1:n.2041G>A
XR_923007.1:n.1751G>A
XR_923011.1:n.1852G>A
NM_001352824.1:c.848G>A	NP_001339753.1:p.Gly283Asp
XM_011511734.2:c.1529G>A	XP_011510036.1:p.Gly510Asp
XM_011511735.2:c.1487G>A	XP_011510037.1:p.Gly496Asp
XM_011511736.2:c.1451G>A	XP_011510038.1:p.Gly484Asp
XM_011511750.3:c.*76G>A	XP_011510052.1:n.*76G>A
XM_011511756.2:c.956G>A	XP_011510058.1:p.Gly319Asp
XM_024453102.1:c.1301G>A	XP_024308870.1:p.Gly434Asp
XR_001738918.2:n.1783G>A
XR_001738919.2:n.1717G>A
XR_923004.3:n.2040G>A
XR_923007.3:n.1750G>A
XR_923011.3:n.1851G>A
NM_152783.5:c.1409G>A MANE Select	NP_689996.4:p.Gly470Asp
NM_001287249.2:c.1007G>A	NP_001274178.1:p.Gly336Asp
NM_001352824.2:c.848G>A	NP_001339753.1:p.Gly283Asp
NR_109778.2:n.1280G>A