Canonical Allele Identifier: CA432079119

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707216C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767801C>G , CM000664.2:g.241767801C>G	GRCh38
NC_000002.11:g.242707216C>G , CM000664.1:g.242707216C>G	GRCh37
NC_000002.10:g.242355889C>G	NCBI36
NG_012012.1:g.38187C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1398C>G MANE Select	ENSP00000315351.4:p.Ala466=
ENST00000321264.8:c.1398C>G	ENSP00000315351.4:p.Ala466=
ENST00000400769.6:c.*148C>G	ENSP00000383580.2:n.*148C>G
ENST00000403782.5:c.996C>G	ENSP00000384723.1:p.Ala332=
ENST00000436747.5:c.*2634C>G	ENSP00000400212.1:n.*2634C>G
ENST00000445308.1:c.794C>G
ENST00000468064.5:n.1288C>G
ENST00000470343.5:n.879C>G
ENST00000473126.1:n.597C>G
ENST00000486953.5:n.1222C>G
ENST00000610344.1:c.*242C>G	ENSP00000481906.1:n.*242C>G
NM_001287249.1:c.996C>G	NP_001274178.1:p.Ala332=
NM_152783.4:c.1398C>G	NP_689996.4:p.Ala466=
NR_109778.1:n.1320C>G
XM_011511734.1:c.1518C>G	XP_011510036.1:p.Ala506=
XM_011511735.1:c.1476C>G	XP_011510037.1:p.Ala492=
XM_011511736.1:c.1440C>G	XP_011510038.1:p.Ala480=
XM_011511750.1:c.*65C>G	XP_011510052.1:n.*65C>G
XM_011511754.1:c.957C>G	XP_011510056.1:p.Ala319=
XM_011511755.1:c.948C>G	XP_011510057.1:p.Ala316=
XM_011511756.1:c.945C>G	XP_011510058.1:p.Ala315=
XR_923004.1:n.2030C>G
XR_923007.1:n.1740C>G
XR_923011.1:n.1841C>G
NM_001352824.1:c.837C>G	NP_001339753.1:p.Ala279=
XM_011511734.2:c.1518C>G	XP_011510036.1:p.Ala506=
XM_011511735.2:c.1476C>G	XP_011510037.1:p.Ala492=
XM_011511736.2:c.1440C>G	XP_011510038.1:p.Ala480=
XM_011511750.3:c.*65C>G	XP_011510052.1:n.*65C>G
XM_011511756.2:c.945C>G	XP_011510058.1:p.Ala315=
XM_024453102.1:c.1290C>G	XP_024308870.1:p.Ala430=
XR_001738918.2:n.1772C>G
XR_001738919.2:n.1706C>G
XR_923004.3:n.2029C>G
XR_923007.3:n.1739C>G
XR_923011.3:n.1840C>G
NM_152783.5:c.1398C>G MANE Select	NP_689996.4:p.Ala466=
NM_001287249.2:c.996C>G	NP_001274178.1:p.Ala332=
NM_001352824.2:c.837C>G	NP_001339753.1:p.Ala279=
NR_109778.2:n.1269C>G