Canonical Allele Identifier: CA68571521

Gene: D2HGDH

Linked Data

• dbSNP Id: rs143460342
• MyVariant Identifiers: chr2:g.242707205G>C (hg19) ; chr2:g.241767790G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767790G>C , CM000664.2:g.241767790G>C	GRCh38
NC_000002.11:g.242707205G>C , CM000664.1:g.242707205G>C	GRCh37
NC_000002.10:g.242355878G>C	NCBI36
NG_012012.1:g.38176G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1387G>C MANE Select	ENSP00000315351.4:p.Glu463Gln
ENST00000321264.8:c.1387G>C	ENSP00000315351.4:p.Glu463Gln
ENST00000400769.6:c.*137G>C	ENSP00000383580.2:n.*137G>C
ENST00000403782.5:c.985G>C	ENSP00000384723.1:p.Glu329Gln
ENST00000436747.5:c.*2623G>C	ENSP00000400212.1:n.*2623G>C
ENST00000445308.1:c.783G>C
ENST00000468064.5:n.1277G>C
ENST00000470343.5:n.868G>C
ENST00000473126.1:n.586G>C
ENST00000486953.5:n.1211G>C
ENST00000610344.1:c.*231G>C	ENSP00000481906.1:n.*231G>C
NM_001287249.1:c.985G>C	NP_001274178.1:p.Glu329Gln
NM_152783.4:c.1387G>C	NP_689996.4:p.Glu463Gln
NR_109778.1:n.1309G>C
XM_011511734.1:c.1507G>C	XP_011510036.1:p.Glu503Gln
XM_011511735.1:c.1465G>C	XP_011510037.1:p.Glu489Gln
XM_011511736.1:c.1429G>C	XP_011510038.1:p.Glu477Gln
XM_011511744.1:c.*119G>C	XP_011510046.1:n.*119G>C
XM_011511750.1:c.*54G>C	XP_011510052.1:n.*54G>C
XM_011511754.1:c.946G>C	XP_011510056.1:p.Glu316Gln
XM_011511755.1:c.937G>C	XP_011510057.1:p.Glu313Gln
XM_011511756.1:c.934G>C	XP_011510058.1:p.Glu312Gln
XR_923004.1:n.2019G>C
XR_923007.1:n.1729G>C
XR_923011.1:n.1830G>C
NM_001352824.1:c.826G>C	NP_001339753.1:p.Glu276Gln
XM_011511734.2:c.1507G>C	XP_011510036.1:p.Glu503Gln
XM_011511735.2:c.1465G>C	XP_011510037.1:p.Glu489Gln
XM_011511736.2:c.1429G>C	XP_011510038.1:p.Glu477Gln
XM_011511750.3:c.*54G>C	XP_011510052.1:n.*54G>C
XM_011511756.2:c.934G>C	XP_011510058.1:p.Glu312Gln
XM_024453102.1:c.1279G>C	XP_024308870.1:p.Glu427Gln
XR_001738918.2:n.1761G>C
XR_001738919.2:n.1695G>C
XR_923004.3:n.2018G>C
XR_923007.3:n.1728G>C
XR_923011.3:n.1829G>C
NM_152783.5:c.1387G>C MANE Select	NP_689996.4:p.Glu463Gln
NM_001287249.2:c.985G>C	NP_001274178.1:p.Glu329Gln
NM_001352824.2:c.826G>C	NP_001339753.1:p.Glu276Gln
NR_109778.2:n.1258G>C