Canonical Allele Identifier: CA432079273

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707240G>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767825G>T , CM000664.2:g.241767825G>T	GRCh38
NC_000002.11:g.242707240G>T , CM000664.1:g.242707240G>T	GRCh37
NC_000002.10:g.242355913G>T	NCBI36
NG_012012.1:g.38211G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1422G>T MANE Select	ENSP00000315351.4:p.Ala474=
ENST00000321264.8:c.1422G>T	ENSP00000315351.4:p.Ala474=
ENST00000400769.6:c.*172G>T	ENSP00000383580.2:n.*172G>T
ENST00000403782.5:c.1020G>T	ENSP00000384723.1:p.Ala340=
ENST00000436747.5:c.*2658G>T	ENSP00000400212.1:n.*2658G>T
ENST00000445308.1:c.818G>T
ENST00000468064.5:n.1312G>T
ENST00000470343.5:n.903G>T
ENST00000473126.1:n.621G>T
ENST00000486953.5:n.1246G>T
ENST00000610344.1:c.*266G>T	ENSP00000481906.1:n.*266G>T
NM_001287249.1:c.1020G>T	NP_001274178.1:p.Ala340=
NM_152783.4:c.1422G>T	NP_689996.4:p.Ala474=
NR_109778.1:n.1344G>T
XM_011511734.1:c.1542G>T	XP_011510036.1:p.Ala514=
XM_011511735.1:c.1500G>T	XP_011510037.1:p.Ala500=
XM_011511736.1:c.1464G>T	XP_011510038.1:p.Ala488=
XM_011511750.1:c.*89G>T	XP_011510052.1:n.*89G>T
XM_011511754.1:c.981G>T	XP_011510056.1:p.Ala327=
XM_011511755.1:c.972G>T	XP_011510057.1:p.Ala324=
XM_011511756.1:c.969G>T	XP_011510058.1:p.Ala323=
XR_923004.1:n.2054G>T
XR_923007.1:n.1764G>T
XR_923011.1:n.1865G>T
NM_001352824.1:c.861G>T	NP_001339753.1:p.Ala287=
XM_011511734.2:c.1542G>T	XP_011510036.1:p.Ala514=
XM_011511735.2:c.1500G>T	XP_011510037.1:p.Ala500=
XM_011511736.2:c.1464G>T	XP_011510038.1:p.Ala488=
XM_011511750.3:c.*89G>T	XP_011510052.1:n.*89G>T
XM_011511756.2:c.969G>T	XP_011510058.1:p.Ala323=
XM_024453102.1:c.1314G>T	XP_024308870.1:p.Ala438=
XR_001738918.2:n.1796G>T
XR_001738919.2:n.1730G>T
XR_923004.3:n.2053G>T
XR_923007.3:n.1763G>T
XR_923011.3:n.1864G>T
NM_152783.5:c.1422G>T MANE Select	NP_689996.4:p.Ala474=
NM_001287249.2:c.1020G>T	NP_001274178.1:p.Ala340=
NM_001352824.2:c.861G>T	NP_001339753.1:p.Ala287=
NR_109778.2:n.1293G>T