Canonical Allele Identifier: CA351413156

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1452543779
• gnomAD v2: 2-242707224-A-G
• gnomAD v3: 2-241767809-A-G
• gnomAD v4: 2-241767809-A-G
• MyVariant Identifiers: chr2:g.242707224A>G (hg19) ; chr2:g.241767809A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767809A>G , CM000664.2:g.241767809A>G	GRCh38
NC_000002.11:g.242707224A>G , CM000664.1:g.242707224A>G	GRCh37
NC_000002.10:g.242355897A>G	NCBI36
NG_012012.1:g.38195A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1406A>G MANE Select	ENSP00000315351.4:p.Gln469Arg
ENST00000321264.8:c.1406A>G	ENSP00000315351.4:p.Gln469Arg
ENST00000400769.6:c.*156A>G	ENSP00000383580.2:n.*156A>G
ENST00000403782.5:c.1004A>G	ENSP00000384723.1:p.Gln335Arg
ENST00000436747.5:c.*2642A>G	ENSP00000400212.1:n.*2642A>G
ENST00000445308.1:c.802A>G
ENST00000468064.5:n.1296A>G
ENST00000470343.5:n.887A>G
ENST00000473126.1:n.605A>G
ENST00000486953.5:n.1230A>G
ENST00000610344.1:c.*250A>G	ENSP00000481906.1:n.*250A>G
NM_001287249.1:c.1004A>G	NP_001274178.1:p.Gln335Arg
NM_152783.4:c.1406A>G	NP_689996.4:p.Gln469Arg
NR_109778.1:n.1328A>G
XM_011511734.1:c.1526A>G	XP_011510036.1:p.Gln509Arg
XM_011511735.1:c.1484A>G	XP_011510037.1:p.Gln495Arg
XM_011511736.1:c.1448A>G	XP_011510038.1:p.Gln483Arg
XM_011511750.1:c.*73A>G	XP_011510052.1:n.*73A>G
XM_011511754.1:c.965A>G	XP_011510056.1:p.Gln322Arg
XM_011511755.1:c.956A>G	XP_011510057.1:p.Gln319Arg
XM_011511756.1:c.953A>G	XP_011510058.1:p.Gln318Arg
XR_923004.1:n.2038A>G
XR_923007.1:n.1748A>G
XR_923011.1:n.1849A>G
NM_001352824.1:c.845A>G	NP_001339753.1:p.Gln282Arg
XM_011511734.2:c.1526A>G	XP_011510036.1:p.Gln509Arg
XM_011511735.2:c.1484A>G	XP_011510037.1:p.Gln495Arg
XM_011511736.2:c.1448A>G	XP_011510038.1:p.Gln483Arg
XM_011511750.3:c.*73A>G	XP_011510052.1:n.*73A>G
XM_011511756.2:c.953A>G	XP_011510058.1:p.Gln318Arg
XM_024453102.1:c.1298A>G	XP_024308870.1:p.Gln433Arg
XR_001738918.2:n.1780A>G
XR_001738919.2:n.1714A>G
XR_923004.3:n.2037A>G
XR_923007.3:n.1747A>G
XR_923011.3:n.1848A>G
NM_152783.5:c.1406A>G MANE Select	NP_689996.4:p.Gln469Arg
NM_001287249.2:c.1004A>G	NP_001274178.1:p.Gln335Arg
NM_001352824.2:c.845A>G	NP_001339753.1:p.Gln282Arg
NR_109778.2:n.1277A>G