Canonical Allele Identifier: CA351412999

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241767737-C-G
• MyVariant Identifiers: chr2:g.242707152C>G (hg19) ; chr2:g.241767737C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767737C>G , CM000664.2:g.241767737C>G	GRCh38
NC_000002.11:g.242707152C>G , CM000664.1:g.242707152C>G	GRCh37
NC_000002.10:g.242355825C>G	NCBI36
NG_012012.1:g.38123C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1334C>G MANE Select	ENSP00000315351.4:p.Thr445Arg
ENST00000321264.8:c.1334C>G	ENSP00000315351.4:p.Thr445Arg
ENST00000400769.6:c.*84C>G	ENSP00000383580.2:n.*84C>G
ENST00000403782.5:c.932C>G	ENSP00000384723.1:p.Thr311Arg
ENST00000436747.5:c.*2570C>G	ENSP00000400212.1:n.*2570C>G
ENST00000445308.1:c.730C>G
ENST00000468064.5:n.1224C>G
ENST00000470343.5:n.815C>G
ENST00000473126.1:n.533C>G
ENST00000486953.5:n.1158C>G
ENST00000610344.1:c.*178C>G	ENSP00000481906.1:n.*178C>G
NM_001287249.1:c.932C>G	NP_001274178.1:p.Thr311Arg
NM_152783.4:c.1334C>G	NP_689996.4:p.Thr445Arg
NR_109778.1:n.1256C>G
XM_011511734.1:c.1454C>G	XP_011510036.1:p.Thr485Arg
XM_011511735.1:c.1412C>G	XP_011510037.1:p.Thr471Arg
XM_011511736.1:c.1376C>G	XP_011510038.1:p.Thr459Arg
XM_011511744.1:c.*66C>G	XP_011510046.1:n.*66C>G
XM_011511750.1:c.*1C>G	XP_011510052.1:n.*1C>G
XM_011511754.1:c.893C>G	XP_011510056.1:p.Thr298Arg
XM_011511755.1:c.884C>G	XP_011510057.1:p.Thr295Arg
XM_011511756.1:c.881C>G	XP_011510058.1:p.Thr294Arg
XR_923004.1:n.1966C>G
XR_923007.1:n.1676C>G
XR_923011.1:n.1777C>G
NM_001352824.1:c.773C>G	NP_001339753.1:p.Thr258Arg
XM_011511734.2:c.1454C>G	XP_011510036.1:p.Thr485Arg
XM_011511735.2:c.1412C>G	XP_011510037.1:p.Thr471Arg
XM_011511736.2:c.1376C>G	XP_011510038.1:p.Thr459Arg
XM_011511744.2:c.*66C>G	XP_011510046.1:n.*66C>G
XM_011511750.3:c.*1C>G	XP_011510052.1:n.*1C>G
XM_011511756.2:c.881C>G	XP_011510058.1:p.Thr294Arg
XM_024453102.1:c.1226C>G	XP_024308870.1:p.Thr409Arg
XR_001738918.2:n.1708C>G
XR_001738919.2:n.1642C>G
XR_923004.3:n.1965C>G
XR_923007.3:n.1675C>G
XR_923011.3:n.1776C>G
NM_152783.5:c.1334C>G MANE Select	NP_689996.4:p.Thr445Arg
NM_001287249.2:c.932C>G	NP_001274178.1:p.Thr311Arg
NM_001352824.2:c.773C>G	NP_001339753.1:p.Thr258Arg
NR_109778.2:n.1205C>G