Canonical Allele Identifier: CA432079083

Gene: D2HGDH

Linked Data

• ClinVar Variation Id: 1658585
• ClinVar RCV Id: RCV002174210
• dbSNP Id: rs143940595
• gnomAD v4: 2-241767780-C-T
• MyVariant Identifiers: chr2:g.242707195C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767780C>T , CM000664.2:g.241767780C>T	GRCh38
NC_000002.11:g.242707195C>T , CM000664.1:g.242707195C>T	GRCh37
NC_000002.10:g.242355868C>T	NCBI36
NG_012012.1:g.38166C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1377C>T MANE Select	ENSP00000315351.4:p.Pro459=
ENST00000321264.8:c.1377C>T	ENSP00000315351.4:p.Pro459=
ENST00000400769.6:c.*127C>T	ENSP00000383580.2:n.*127C>T
ENST00000403782.5:c.975C>T	ENSP00000384723.1:p.Pro325=
ENST00000436747.5:c.*2613C>T	ENSP00000400212.1:n.*2613C>T
ENST00000445308.1:c.773C>T
ENST00000468064.5:n.1267C>T
ENST00000470343.5:n.858C>T
ENST00000473126.1:n.576C>T
ENST00000486953.5:n.1201C>T
ENST00000610344.1:c.*221C>T	ENSP00000481906.1:n.*221C>T
NM_001287249.1:c.975C>T	NP_001274178.1:p.Pro325=
NM_152783.4:c.1377C>T	NP_689996.4:p.Pro459=
NR_109778.1:n.1299C>T
XM_011511734.1:c.1497C>T	XP_011510036.1:p.Pro499=
XM_011511735.1:c.1455C>T	XP_011510037.1:p.Pro485=
XM_011511736.1:c.1419C>T	XP_011510038.1:p.Pro473=
XM_011511744.1:c.*109C>T	XP_011510046.1:n.*109C>T
XM_011511750.1:c.*44C>T	XP_011510052.1:n.*44C>T
XM_011511754.1:c.936C>T	XP_011510056.1:p.Pro312=
XM_011511755.1:c.927C>T	XP_011510057.1:p.Pro309=
XM_011511756.1:c.924C>T	XP_011510058.1:p.Pro308=
XR_923004.1:n.2009C>T
XR_923007.1:n.1719C>T
XR_923011.1:n.1820C>T
NM_001352824.1:c.816C>T	NP_001339753.1:p.Pro272=
XM_011511734.2:c.1497C>T	XP_011510036.1:p.Pro499=
XM_011511735.2:c.1455C>T	XP_011510037.1:p.Pro485=
XM_011511736.2:c.1419C>T	XP_011510038.1:p.Pro473=
XM_011511744.2:c.*109C>T	XP_011510046.1:n.*109C>T
XM_011511750.3:c.*44C>T	XP_011510052.1:n.*44C>T
XM_011511756.2:c.924C>T	XP_011510058.1:p.Pro308=
XM_024453102.1:c.1269C>T	XP_024308870.1:p.Pro423=
XR_001738918.2:n.1751C>T
XR_001738919.2:n.1685C>T
XR_923004.3:n.2008C>T
XR_923007.3:n.1718C>T
XR_923011.3:n.1819C>T
NM_152783.5:c.1377C>T MANE Select	NP_689996.4:p.Pro459=
NM_001287249.2:c.975C>T	NP_001274178.1:p.Pro325=
NM_001352824.2:c.816C>T	NP_001339753.1:p.Pro272=
NR_109778.2:n.1248C>T