Canonical Allele Identifier: CA351413024

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707158A>T (hg19) ; chr2:g.241767743A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767743A>T , CM000664.2:g.241767743A>T	GRCh38
NC_000002.11:g.242707158A>T , CM000664.1:g.242707158A>T	GRCh37
NC_000002.10:g.242355831A>T	NCBI36
NG_012012.1:g.38129A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1340A>T MANE Select	ENSP00000315351.4:p.Glu447Val
ENST00000321264.8:c.1340A>T	ENSP00000315351.4:p.Glu447Val
ENST00000400769.6:c.*90A>T	ENSP00000383580.2:n.*90A>T
ENST00000403782.5:c.938A>T	ENSP00000384723.1:p.Glu313Val
ENST00000436747.5:c.*2576A>T	ENSP00000400212.1:n.*2576A>T
ENST00000445308.1:c.736A>T
ENST00000468064.5:n.1230A>T
ENST00000470343.5:n.821A>T
ENST00000473126.1:n.539A>T
ENST00000486953.5:n.1164A>T
ENST00000610344.1:c.*184A>T	ENSP00000481906.1:n.*184A>T
NM_001287249.1:c.938A>T	NP_001274178.1:p.Glu313Val
NM_152783.4:c.1340A>T	NP_689996.4:p.Glu447Val
NR_109778.1:n.1262A>T
XM_011511734.1:c.1460A>T	XP_011510036.1:p.Glu487Val
XM_011511735.1:c.1418A>T	XP_011510037.1:p.Glu473Val
XM_011511736.1:c.1382A>T	XP_011510038.1:p.Glu461Val
XM_011511744.1:c.*72A>T	XP_011510046.1:n.*72A>T
XM_011511750.1:c.*7A>T	XP_011510052.1:n.*7A>T
XM_011511754.1:c.899A>T	XP_011510056.1:p.Glu300Val
XM_011511755.1:c.890A>T	XP_011510057.1:p.Glu297Val
XM_011511756.1:c.887A>T	XP_011510058.1:p.Glu296Val
XR_923004.1:n.1972A>T
XR_923007.1:n.1682A>T
XR_923011.1:n.1783A>T
NM_001352824.1:c.779A>T	NP_001339753.1:p.Glu260Val
XM_011511734.2:c.1460A>T	XP_011510036.1:p.Glu487Val
XM_011511735.2:c.1418A>T	XP_011510037.1:p.Glu473Val
XM_011511736.2:c.1382A>T	XP_011510038.1:p.Glu461Val
XM_011511744.2:c.*72A>T	XP_011510046.1:n.*72A>T
XM_011511750.3:c.*7A>T	XP_011510052.1:n.*7A>T
XM_011511756.2:c.887A>T	XP_011510058.1:p.Glu296Val
XM_024453102.1:c.1232A>T	XP_024308870.1:p.Glu411Val
XR_001738918.2:n.1714A>T
XR_001738919.2:n.1648A>T
XR_923004.3:n.1971A>T
XR_923007.3:n.1681A>T
XR_923011.3:n.1782A>T
NM_152783.5:c.1340A>T MANE Select	NP_689996.4:p.Glu447Val
NM_001287249.2:c.938A>T	NP_001274178.1:p.Glu313Val
NM_001352824.2:c.779A>T	NP_001339753.1:p.Glu260Val
NR_109778.2:n.1211A>T