Canonical Allele Identifier: CA2222199
Gene: D2HGDH HGNC NCBI

Linked Data

ClinVar Variation Id: 434891
dbSNP Id: rs113782371

Genomic Alleles

HGVS Genome Assembly
NC_000002.12:g.241767711A>G , CM000664.2:g.241767711A>G GRCh38
NC_000002.11:g.242707126A>G , CM000664.1:g.242707126A>G GRCh37
NC_000002.10:g.242355799A>G NCBI36
NG_012012.1:g.38097A>G

Transcript Alleles

HGVS Amino-acid change
ENST00000321264.9:c.1308A>G MANE Select ENSP00000315351.4:p.Gly436=
ENST00000321264.8:c.1308A>G ENSP00000315351.4:p.Gly436=
ENST00000400769.6:c.*58A>G ENSP00000383580.2:n.*58A>G
ENST00000403782.5:c.906A>G ENSP00000384723.1:p.Gly302=
ENST00000436747.5:c.*2544A>G ENSP00000400212.1:n.*2544A>G
ENST00000445308.1:c.704A>G
ENST00000468064.5:n.1198A>G
ENST00000470343.5:n.789A>G
ENST00000473126.1:n.507A>G
ENST00000486953.5:n.1134-2A>G
ENST00000610344.1:c.*152A>G ENSP00000481906.1:n.*152A>G
NM_001287249.1:c.906A>G NP_001274178.1:p.Gly302=
NM_152783.4:c.1308A>G NP_689996.4:p.Gly436=
NR_109778.1:n.1230A>G
XM_011511734.1:c.1428A>G XP_011510036.1:p.Gly476=
XM_011511735.1:c.1386A>G XP_011510037.1:p.Gly462=
XM_011511736.1:c.1350A>G XP_011510038.1:p.Gly450=
XM_011511744.1:c.*40A>G XP_011510046.1:n.*40A>G
XM_011511750.1:c.1220A>G XP_011510052.1:p.Glu407Gly
XM_011511754.1:c.867A>G XP_011510056.1:p.Gly289=
XM_011511755.1:c.858A>G XP_011510057.1:p.Gly286=
XM_011511756.1:c.855A>G XP_011510058.1:p.Gly285=
XR_923004.1:n.1940A>G
XR_923007.1:n.1650A>G
XR_923011.1:n.1751A>G
NM_001352824.1:c.747A>G NP_001339753.1:p.Gly249=
XM_011511734.2:c.1428A>G XP_011510036.1:p.Gly476=
XM_011511735.2:c.1386A>G XP_011510037.1:p.Gly462=
XM_011511736.2:c.1350A>G XP_011510038.1:p.Gly450=
XM_011511744.2:c.*40A>G XP_011510046.1:n.*40A>G
XM_011511750.3:c.1220A>G XP_011510052.1:p.Glu407Gly
XM_011511756.2:c.855A>G XP_011510058.1:p.Gly285=
XM_024453102.1:c.1200A>G XP_024308870.1:p.Gly400=
XR_001738918.2:n.1682A>G
XR_001738919.2:n.1616A>G
XR_923004.3:n.1939A>G
XR_923007.3:n.1649A>G
XR_923011.3:n.1750A>G
NM_152783.5:c.1308A>G MANE Select NP_689996.4:p.Gly436=
NM_001287249.2:c.906A>G NP_001274178.1:p.Gly302=
NM_001352824.2:c.747A>G NP_001339753.1:p.Gly249=
NR_109778.2:n.1179A>G