Canonical Allele Identifier: CA432078958

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1263790251
• gnomAD v2: 2-242707150-G-A
• MyVariant Identifiers: chr2:g.242707150G>A (hg19) ; chr2:g.241767735G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767735G>A , CM000664.2:g.241767735G>A	GRCh38
NC_000002.11:g.242707150G>A , CM000664.1:g.242707150G>A	GRCh37
NC_000002.10:g.242355823G>A	NCBI36
NG_012012.1:g.38121G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1332G>A MANE Select	ENSP00000315351.4:p.Val444=
ENST00000321264.8:c.1332G>A	ENSP00000315351.4:p.Val444=
ENST00000400769.6:c.*82G>A	ENSP00000383580.2:n.*82G>A
ENST00000403782.5:c.930G>A	ENSP00000384723.1:p.Val310=
ENST00000436747.5:c.*2568G>A	ENSP00000400212.1:n.*2568G>A
ENST00000445308.1:c.728G>A
ENST00000468064.5:n.1222G>A
ENST00000470343.5:n.813G>A
ENST00000473126.1:n.531G>A
ENST00000486953.5:n.1156G>A
ENST00000610344.1:c.*176G>A	ENSP00000481906.1:n.*176G>A
NM_001287249.1:c.930G>A	NP_001274178.1:p.Val310=
NM_152783.4:c.1332G>A	NP_689996.4:p.Val444=
NR_109778.1:n.1254G>A
XM_011511734.1:c.1452G>A	XP_011510036.1:p.Val484=
XM_011511735.1:c.1410G>A	XP_011510037.1:p.Val470=
XM_011511736.1:c.1374G>A	XP_011510038.1:p.Val458=
XM_011511744.1:c.*64G>A	XP_011510046.1:n.*64G>A
XM_011511750.1:c.1244G>A	XP_011510052.1:p.Ter415=
XM_011511754.1:c.891G>A	XP_011510056.1:p.Val297=
XM_011511755.1:c.882G>A	XP_011510057.1:p.Val294=
XM_011511756.1:c.879G>A	XP_011510058.1:p.Val293=
XR_923004.1:n.1964G>A
XR_923007.1:n.1674G>A
XR_923011.1:n.1775G>A
NM_001352824.1:c.771G>A	NP_001339753.1:p.Val257=
XM_011511734.2:c.1452G>A	XP_011510036.1:p.Val484=
XM_011511735.2:c.1410G>A	XP_011510037.1:p.Val470=
XM_011511736.2:c.1374G>A	XP_011510038.1:p.Val458=
XM_011511744.2:c.*64G>A	XP_011510046.1:n.*64G>A
XM_011511750.3:c.1244G>A	XP_011510052.1:p.Ter415=
XM_011511756.2:c.879G>A	XP_011510058.1:p.Val293=
XM_024453102.1:c.1224G>A	XP_024308870.1:p.Val408=
XR_001738918.2:n.1706G>A
XR_001738919.2:n.1640G>A
XR_923004.3:n.1963G>A
XR_923007.3:n.1673G>A
XR_923011.3:n.1774G>A
NM_152783.5:c.1332G>A MANE Select	NP_689996.4:p.Val444=
NM_001287249.2:c.930G>A	NP_001274178.1:p.Val310=
NM_001352824.2:c.771G>A	NP_001339753.1:p.Val257=
NR_109778.2:n.1203G>A