Canonical Allele Identifier: CA2222239
Gene: D2HGDH HGNC NCBI

Linked Data

ClinVar Variation Id: 335320
dbSNP Id: rs375162898

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241767856G>A , CM000664.2:g.241767856G>A GRCh38
NC_000002.11:g.242707271G>A , CM000664.1:g.242707271G>A GRCh37
NC_000002.10:g.242355944G>A NCBI36
NG_012012.1:g.38242G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000321264.9:c.1453G>A MANE Select ENSP00000315351.4:p.Val485Ile
ENST00000321264.8:c.1453G>A ENSP00000315351.4:p.Val485Ile
ENST00000400769.6:c.*203G>A ENSP00000383580.2:p.=
ENST00000403782.5:c.1051G>A ENSP00000384723.1:p.Val351Ile
ENST00000436747.5:c.*2689G>A ENSP00000400212.1:p.=
ENST00000445308.1:n.849G>A
ENST00000468064.5:n.1343G>A
ENST00000470343.5:n.934G>A
ENST00000473126.1:n.652G>A
ENST00000486953.5:n.1277G>A
ENST00000610344.1:c.*297G>A ENSP00000481906.1:p.=
NM_001287249.1:c.1051G>A NP_001274178.1:p.Val351Ile
NM_152783.4:c.1453G>A NP_689996.4:p.Val485Ile
NR_109778.1:n.1375G>A
XM_011511734.1:c.1573G>A XP_011510036.1:p.Val525Ile
XM_011511735.1:c.1531G>A XP_011510037.1:p.Val511Ile
XM_011511736.1:c.1495G>A XP_011510038.1:p.Val499Ile
XM_011511754.1:c.1012G>A XP_011510056.1:p.Val338Ile
XM_011511755.1:c.1003G>A XP_011510057.1:p.Val335Ile
XM_011511756.1:c.1000G>A XP_011510058.1:p.Val334Ile
XR_923004.1:n.2085G>A
XR_923007.1:n.1795G>A
XR_923011.1:n.1896G>A
NM_001352824.1:c.892G>A NP_001339753.1:p.Val298Ile
XM_011511734.2:c.1573G>A XP_011510036.1:p.Val525Ile
XM_011511735.2:c.1531G>A XP_011510037.1:p.Val511Ile
XM_011511736.2:c.1495G>A XP_011510038.1:p.Val499Ile
XM_011511756.2:c.1000G>A XP_011510058.1:p.Val334Ile
XM_024453102.1:c.1345G>A XP_024308870.1:p.Val449Ile
XR_001738918.2:n.1827G>A
XR_001738919.2:n.1761G>A
XR_923004.3:n.2084G>A
XR_923007.3:n.1794G>A
XR_923011.3:n.1895G>A
NM_152783.5:c.1453G>A MANE Select NP_689996.4:p.Val485Ile
NM_001287249.2:c.1051G>A NP_001274178.1:p.Val351Ile
NM_001352824.2:c.892G>A NP_001339753.1:p.Val298Ile
NR_109778.2:n.1324G>A