Canonical Allele Identifier: CA351413145

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1010611427
• MyVariant Identifiers: chr2:g.242707218G>A (hg19) ; chr2:g.241767803G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767803G>A , CM000664.2:g.241767803G>A	GRCh38
NC_000002.11:g.242707218G>A , CM000664.1:g.242707218G>A	GRCh37
NC_000002.10:g.242355891G>A	NCBI36
NG_012012.1:g.38189G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1400G>A MANE Select	ENSP00000315351.4:p.Gly467Glu
ENST00000321264.8:c.1400G>A	ENSP00000315351.4:p.Gly467Glu
ENST00000400769.6:c.*150G>A	ENSP00000383580.2:n.*150G>A
ENST00000403782.5:c.998G>A	ENSP00000384723.1:p.Gly333Glu
ENST00000436747.5:c.*2636G>A	ENSP00000400212.1:n.*2636G>A
ENST00000445308.1:c.796G>A
ENST00000468064.5:n.1290G>A
ENST00000470343.5:n.881G>A
ENST00000473126.1:n.599G>A
ENST00000486953.5:n.1224G>A
ENST00000610344.1:c.*244G>A	ENSP00000481906.1:n.*244G>A
NM_001287249.1:c.998G>A	NP_001274178.1:p.Gly333Glu
NM_152783.4:c.1400G>A	NP_689996.4:p.Gly467Glu
NR_109778.1:n.1322G>A
XM_011511734.1:c.1520G>A	XP_011510036.1:p.Gly507Glu
XM_011511735.1:c.1478G>A	XP_011510037.1:p.Gly493Glu
XM_011511736.1:c.1442G>A	XP_011510038.1:p.Gly481Glu
XM_011511750.1:c.*67G>A	XP_011510052.1:n.*67G>A
XM_011511754.1:c.959G>A	XP_011510056.1:p.Gly320Glu
XM_011511755.1:c.950G>A	XP_011510057.1:p.Gly317Glu
XM_011511756.1:c.947G>A	XP_011510058.1:p.Gly316Glu
XR_923004.1:n.2032G>A
XR_923007.1:n.1742G>A
XR_923011.1:n.1843G>A
NM_001352824.1:c.839G>A	NP_001339753.1:p.Gly280Glu
XM_011511734.2:c.1520G>A	XP_011510036.1:p.Gly507Glu
XM_011511735.2:c.1478G>A	XP_011510037.1:p.Gly493Glu
XM_011511736.2:c.1442G>A	XP_011510038.1:p.Gly481Glu
XM_011511750.3:c.*67G>A	XP_011510052.1:n.*67G>A
XM_011511756.2:c.947G>A	XP_011510058.1:p.Gly316Glu
XM_024453102.1:c.1292G>A	XP_024308870.1:p.Gly431Glu
XR_001738918.2:n.1774G>A
XR_001738919.2:n.1708G>A
XR_923004.3:n.2031G>A
XR_923007.3:n.1741G>A
XR_923011.3:n.1842G>A
NM_152783.5:c.1400G>A MANE Select	NP_689996.4:p.Gly467Glu
NM_001287249.2:c.998G>A	NP_001274178.1:p.Gly333Glu
NM_001352824.2:c.839G>A	NP_001339753.1:p.Gly280Glu
NR_109778.2:n.1271G>A