Canonical Allele Identifier: CA2222220

Gene: D2HGDH

Linked Data

• ClinVar Variation Id: 434892
• ClinVar RCV Id: RCV000501644 ; RCV001255067 ; RCV001426967 ; RCV003915370
• dbSNP Id: rs143460342
• ExAC: 2:242707205 G / A
• gnomAD v2: 2-242707205-G-A
• gnomAD v3: 2-241767790-G-A
• gnomAD v4: 2-241767790-G-A
• MyVariant Identifiers: chr2:g.242707205G>A (hg19) ; chr2:g.241767790G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767790G>A , CM000664.2:g.241767790G>A	GRCh38
NC_000002.11:g.242707205G>A , CM000664.1:g.242707205G>A	GRCh37
NC_000002.10:g.242355878G>A	NCBI36
NG_012012.1:g.38176G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1387G>A MANE Select	ENSP00000315351.4:p.Glu463Lys
ENST00000321264.8:c.1387G>A	ENSP00000315351.4:p.Glu463Lys
ENST00000400769.6:c.*137G>A	ENSP00000383580.2:n.*137G>A
ENST00000403782.5:c.985G>A	ENSP00000384723.1:p.Glu329Lys
ENST00000436747.5:c.*2623G>A	ENSP00000400212.1:n.*2623G>A
ENST00000445308.1:c.783G>A
ENST00000468064.5:n.1277G>A
ENST00000470343.5:n.868G>A
ENST00000473126.1:n.586G>A
ENST00000486953.5:n.1211G>A
ENST00000610344.1:c.*231G>A	ENSP00000481906.1:n.*231G>A
NM_001287249.1:c.985G>A	NP_001274178.1:p.Glu329Lys
NM_152783.4:c.1387G>A	NP_689996.4:p.Glu463Lys
NR_109778.1:n.1309G>A
XM_011511734.1:c.1507G>A	XP_011510036.1:p.Glu503Lys
XM_011511735.1:c.1465G>A	XP_011510037.1:p.Glu489Lys
XM_011511736.1:c.1429G>A	XP_011510038.1:p.Glu477Lys
XM_011511744.1:c.*119G>A	XP_011510046.1:n.*119G>A
XM_011511750.1:c.*54G>A	XP_011510052.1:n.*54G>A
XM_011511754.1:c.946G>A	XP_011510056.1:p.Glu316Lys
XM_011511755.1:c.937G>A	XP_011510057.1:p.Glu313Lys
XM_011511756.1:c.934G>A	XP_011510058.1:p.Glu312Lys
XR_923004.1:n.2019G>A
XR_923007.1:n.1729G>A
XR_923011.1:n.1830G>A
NM_001352824.1:c.826G>A	NP_001339753.1:p.Glu276Lys
XM_011511734.2:c.1507G>A	XP_011510036.1:p.Glu503Lys
XM_011511735.2:c.1465G>A	XP_011510037.1:p.Glu489Lys
XM_011511736.2:c.1429G>A	XP_011510038.1:p.Glu477Lys
XM_011511750.3:c.*54G>A	XP_011510052.1:n.*54G>A
XM_011511756.2:c.934G>A	XP_011510058.1:p.Glu312Lys
XM_024453102.1:c.1279G>A	XP_024308870.1:p.Glu427Lys
XR_001738918.2:n.1761G>A
XR_001738919.2:n.1695G>A
XR_923004.3:n.2018G>A
XR_923007.3:n.1728G>A
XR_923011.3:n.1829G>A
NM_152783.5:c.1387G>A MANE Select	NP_689996.4:p.Glu463Lys
NM_001287249.2:c.985G>A	NP_001274178.1:p.Glu329Lys
NM_001352824.2:c.826G>A	NP_001339753.1:p.Glu276Lys
NR_109778.2:n.1258G>A