Canonical Allele Identifier: CA351412892

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707131G>A (hg19) ; chr2:g.241767716G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767716G>A , CM000664.2:g.241767716G>A	GRCh38
NC_000002.11:g.242707131G>A , CM000664.1:g.242707131G>A	GRCh37
NC_000002.10:g.242355804G>A	NCBI36
NG_012012.1:g.38102G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1313G>A MANE Select	ENSP00000315351.4:p.Gly438Asp
ENST00000321264.8:c.1313G>A	ENSP00000315351.4:p.Gly438Asp
ENST00000400769.6:c.*63G>A	ENSP00000383580.2:n.*63G>A
ENST00000403782.5:c.911G>A	ENSP00000384723.1:p.Gly304Asp
ENST00000436747.5:c.*2549G>A	ENSP00000400212.1:n.*2549G>A
ENST00000445308.1:c.709G>A
ENST00000468064.5:n.1203G>A
ENST00000470343.5:n.794G>A
ENST00000473126.1:n.512G>A
ENST00000486953.5:n.1137G>A
ENST00000610344.1:c.*157G>A	ENSP00000481906.1:n.*157G>A
NM_001287249.1:c.911G>A	NP_001274178.1:p.Gly304Asp
NM_152783.4:c.1313G>A	NP_689996.4:p.Gly438Asp
NR_109778.1:n.1235G>A
XM_011511734.1:c.1433G>A	XP_011510036.1:p.Gly478Asp
XM_011511735.1:c.1391G>A	XP_011510037.1:p.Gly464Asp
XM_011511736.1:c.1355G>A	XP_011510038.1:p.Gly452Asp
XM_011511744.1:c.*45G>A	XP_011510046.1:n.*45G>A
XM_011511750.1:c.1225G>A	XP_011510052.1:p.Val409Ile
XM_011511754.1:c.872G>A	XP_011510056.1:p.Gly291Asp
XM_011511755.1:c.863G>A	XP_011510057.1:p.Gly288Asp
XM_011511756.1:c.860G>A	XP_011510058.1:p.Gly287Asp
XR_923004.1:n.1945G>A
XR_923007.1:n.1655G>A
XR_923011.1:n.1756G>A
NM_001352824.1:c.752G>A	NP_001339753.1:p.Gly251Asp
XM_011511734.2:c.1433G>A	XP_011510036.1:p.Gly478Asp
XM_011511735.2:c.1391G>A	XP_011510037.1:p.Gly464Asp
XM_011511736.2:c.1355G>A	XP_011510038.1:p.Gly452Asp
XM_011511744.2:c.*45G>A	XP_011510046.1:n.*45G>A
XM_011511750.3:c.1225G>A	XP_011510052.1:p.Val409Ile
XM_011511756.2:c.860G>A	XP_011510058.1:p.Gly287Asp
XM_024453102.1:c.1205G>A	XP_024308870.1:p.Gly402Asp
XR_001738918.2:n.1687G>A
XR_001738919.2:n.1621G>A
XR_923004.3:n.1944G>A
XR_923007.3:n.1654G>A
XR_923011.3:n.1755G>A
NM_152783.5:c.1313G>A MANE Select	NP_689996.4:p.Gly438Asp
NM_001287249.2:c.911G>A	NP_001274178.1:p.Gly304Asp
NM_001352824.2:c.752G>A	NP_001339753.1:p.Gly251Asp
NR_109778.2:n.1184G>A