Canonical Allele Identifier: CA351413117

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707205G>T (hg19) ; chr2:g.241767790G>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1387G>T MANE Select	ENSP00000315351.4:p.Glu463Ter
ENST00000321264.8:c.1387G>T	ENSP00000315351.4:p.Glu463Ter
ENST00000400769.6:c.*137G>T	ENSP00000383580.2:n.*137G>T
ENST00000403782.5:c.985G>T	ENSP00000384723.1:p.Glu329Ter
ENST00000436747.5:c.*2623G>T	ENSP00000400212.1:n.*2623G>T
ENST00000445308.1:c.783G>T
ENST00000468064.5:n.1277G>T
ENST00000470343.5:n.868G>T
ENST00000473126.1:n.586G>T
ENST00000486953.5:n.1211G>T
ENST00000610344.1:c.*231G>T	ENSP00000481906.1:n.*231G>T
NM_001287249.1:c.985G>T	NP_001274178.1:p.Glu329Ter
NM_152783.4:c.1387G>T	NP_689996.4:p.Glu463Ter
NR_109778.1:n.1309G>T
XM_011511734.1:c.1507G>T	XP_011510036.1:p.Glu503Ter
XM_011511735.1:c.1465G>T	XP_011510037.1:p.Glu489Ter
XM_011511736.1:c.1429G>T	XP_011510038.1:p.Glu477Ter
XM_011511744.1:c.*119G>T	XP_011510046.1:n.*119G>T
XM_011511750.1:c.*54G>T	XP_011510052.1:n.*54G>T
XM_011511754.1:c.946G>T	XP_011510056.1:p.Glu316Ter
XM_011511755.1:c.937G>T	XP_011510057.1:p.Glu313Ter
XM_011511756.1:c.934G>T	XP_011510058.1:p.Glu312Ter
XR_923004.1:n.2019G>T
XR_923007.1:n.1729G>T
XR_923011.1:n.1830G>T
NM_001352824.1:c.826G>T	NP_001339753.1:p.Glu276Ter
XM_011511734.2:c.1507G>T	XP_011510036.1:p.Glu503Ter
XM_011511735.2:c.1465G>T	XP_011510037.1:p.Glu489Ter
XM_011511736.2:c.1429G>T	XP_011510038.1:p.Glu477Ter
XM_011511750.3:c.*54G>T	XP_011510052.1:n.*54G>T
XM_011511756.2:c.934G>T	XP_011510058.1:p.Glu312Ter
XM_024453102.1:c.1279G>T	XP_024308870.1:p.Glu427Ter
XR_001738918.2:n.1761G>T
XR_001738919.2:n.1695G>T
XR_923004.3:n.2018G>T
XR_923007.3:n.1728G>T
XR_923011.3:n.1829G>T
NM_152783.5:c.1387G>T MANE Select	NP_689996.4:p.Glu463Ter
NM_001287249.2:c.985G>T	NP_001274178.1:p.Glu329Ter
NM_001352824.2:c.826G>T	NP_001339753.1:p.Glu276Ter
NR_109778.2:n.1258G>T