Canonical Allele Identifier: CA432079140

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241767810-G-A
• MyVariant Identifiers: chr2:g.242707225G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767810G>A , CM000664.2:g.241767810G>A	GRCh38
NC_000002.11:g.242707225G>A , CM000664.1:g.242707225G>A	GRCh37
NC_000002.10:g.242355898G>A	NCBI36
NG_012012.1:g.38196G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1407G>A MANE Select	ENSP00000315351.4:p.Gln469=
ENST00000321264.8:c.1407G>A	ENSP00000315351.4:p.Gln469=
ENST00000400769.6:c.*157G>A	ENSP00000383580.2:n.*157G>A
ENST00000403782.5:c.1005G>A	ENSP00000384723.1:p.Gln335=
ENST00000436747.5:c.*2643G>A	ENSP00000400212.1:n.*2643G>A
ENST00000445308.1:c.803G>A
ENST00000468064.5:n.1297G>A
ENST00000470343.5:n.888G>A
ENST00000473126.1:n.606G>A
ENST00000486953.5:n.1231G>A
ENST00000610344.1:c.*251G>A	ENSP00000481906.1:n.*251G>A
NM_001287249.1:c.1005G>A	NP_001274178.1:p.Gln335=
NM_152783.4:c.1407G>A	NP_689996.4:p.Gln469=
NR_109778.1:n.1329G>A
XM_011511734.1:c.1527G>A	XP_011510036.1:p.Gln509=
XM_011511735.1:c.1485G>A	XP_011510037.1:p.Gln495=
XM_011511736.1:c.1449G>A	XP_011510038.1:p.Gln483=
XM_011511750.1:c.*74G>A	XP_011510052.1:n.*74G>A
XM_011511754.1:c.966G>A	XP_011510056.1:p.Gln322=
XM_011511755.1:c.957G>A	XP_011510057.1:p.Gln319=
XM_011511756.1:c.954G>A	XP_011510058.1:p.Gln318=
XR_923004.1:n.2039G>A
XR_923007.1:n.1749G>A
XR_923011.1:n.1850G>A
NM_001352824.1:c.846G>A	NP_001339753.1:p.Gln282=
XM_011511734.2:c.1527G>A	XP_011510036.1:p.Gln509=
XM_011511735.2:c.1485G>A	XP_011510037.1:p.Gln495=
XM_011511736.2:c.1449G>A	XP_011510038.1:p.Gln483=
XM_011511750.3:c.*74G>A	XP_011510052.1:n.*74G>A
XM_011511756.2:c.954G>A	XP_011510058.1:p.Gln318=
XM_024453102.1:c.1299G>A	XP_024308870.1:p.Gln433=
XR_001738918.2:n.1781G>A
XR_001738919.2:n.1715G>A
XR_923004.3:n.2038G>A
XR_923007.3:n.1748G>A
XR_923011.3:n.1849G>A
NM_152783.5:c.1407G>A MANE Select	NP_689996.4:p.Gln469=
NM_001287249.2:c.1005G>A	NP_001274178.1:p.Gln335=
NM_001352824.2:c.846G>A	NP_001339753.1:p.Gln282=
NR_109778.2:n.1278G>A