Canonical Allele Identifier: CA432079074

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707189G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767774G>C , CM000664.2:g.241767774G>C	GRCh38
NC_000002.11:g.242707189G>C , CM000664.1:g.242707189G>C	GRCh37
NC_000002.10:g.242355862G>C	NCBI36
NG_012012.1:g.38160G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1371G>C MANE Select	ENSP00000315351.4:p.Leu457=
ENST00000321264.8:c.1371G>C	ENSP00000315351.4:p.Leu457=
ENST00000400769.6:c.*121G>C	ENSP00000383580.2:n.*121G>C
ENST00000403782.5:c.969G>C	ENSP00000384723.1:p.Leu323=
ENST00000436747.5:c.*2607G>C	ENSP00000400212.1:n.*2607G>C
ENST00000445308.1:c.767G>C
ENST00000468064.5:n.1261G>C
ENST00000470343.5:n.852G>C
ENST00000473126.1:n.570G>C
ENST00000486953.5:n.1195G>C
ENST00000610344.1:c.*215G>C	ENSP00000481906.1:n.*215G>C
NM_001287249.1:c.969G>C	NP_001274178.1:p.Leu323=
NM_152783.4:c.1371G>C	NP_689996.4:p.Leu457=
NR_109778.1:n.1293G>C
XM_011511734.1:c.1491G>C	XP_011510036.1:p.Leu497=
XM_011511735.1:c.1449G>C	XP_011510037.1:p.Leu483=
XM_011511736.1:c.1413G>C	XP_011510038.1:p.Leu471=
XM_011511744.1:c.*103G>C	XP_011510046.1:n.*103G>C
XM_011511750.1:c.*38G>C	XP_011510052.1:n.*38G>C
XM_011511754.1:c.930G>C	XP_011510056.1:p.Leu310=
XM_011511755.1:c.921G>C	XP_011510057.1:p.Leu307=
XM_011511756.1:c.918G>C	XP_011510058.1:p.Leu306=
XR_923004.1:n.2003G>C
XR_923007.1:n.1713G>C
XR_923011.1:n.1814G>C
NM_001352824.1:c.810G>C	NP_001339753.1:p.Leu270=
XM_011511734.2:c.1491G>C	XP_011510036.1:p.Leu497=
XM_011511735.2:c.1449G>C	XP_011510037.1:p.Leu483=
XM_011511736.2:c.1413G>C	XP_011510038.1:p.Leu471=
XM_011511744.2:c.*103G>C	XP_011510046.1:n.*103G>C
XM_011511750.3:c.*38G>C	XP_011510052.1:n.*38G>C
XM_011511756.2:c.918G>C	XP_011510058.1:p.Leu306=
XM_024453102.1:c.1263G>C	XP_024308870.1:p.Leu421=
XR_001738918.2:n.1745G>C
XR_001738919.2:n.1679G>C
XR_923004.3:n.2002G>C
XR_923007.3:n.1712G>C
XR_923011.3:n.1813G>C
NM_152783.5:c.1371G>C MANE Select	NP_689996.4:p.Leu457=
NM_001287249.2:c.969G>C	NP_001274178.1:p.Leu323=
NM_001352824.2:c.810G>C	NP_001339753.1:p.Leu270=
NR_109778.2:n.1242G>C