Canonical Allele Identifier: CA432079260

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707228C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767813C>A , CM000664.2:g.241767813C>A	GRCh38
NC_000002.11:g.242707228C>A , CM000664.1:g.242707228C>A	GRCh37
NC_000002.10:g.242355901C>A	NCBI36
NG_012012.1:g.38199C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1410C>A MANE Select	ENSP00000315351.4:p.Gly470=
ENST00000321264.8:c.1410C>A	ENSP00000315351.4:p.Gly470=
ENST00000400769.6:c.*160C>A	ENSP00000383580.2:n.*160C>A
ENST00000403782.5:c.1008C>A	ENSP00000384723.1:p.Gly336=
ENST00000436747.5:c.*2646C>A	ENSP00000400212.1:n.*2646C>A
ENST00000445308.1:c.806C>A
ENST00000468064.5:n.1300C>A
ENST00000470343.5:n.891C>A
ENST00000473126.1:n.609C>A
ENST00000486953.5:n.1234C>A
ENST00000610344.1:c.*254C>A	ENSP00000481906.1:n.*254C>A
NM_001287249.1:c.1008C>A	NP_001274178.1:p.Gly336=
NM_152783.4:c.1410C>A	NP_689996.4:p.Gly470=
NR_109778.1:n.1332C>A
XM_011511734.1:c.1530C>A	XP_011510036.1:p.Gly510=
XM_011511735.1:c.1488C>A	XP_011510037.1:p.Gly496=
XM_011511736.1:c.1452C>A	XP_011510038.1:p.Gly484=
XM_011511750.1:c.*77C>A	XP_011510052.1:n.*77C>A
XM_011511754.1:c.969C>A	XP_011510056.1:p.Gly323=
XM_011511755.1:c.960C>A	XP_011510057.1:p.Gly320=
XM_011511756.1:c.957C>A	XP_011510058.1:p.Gly319=
XR_923004.1:n.2042C>A
XR_923007.1:n.1752C>A
XR_923011.1:n.1853C>A
NM_001352824.1:c.849C>A	NP_001339753.1:p.Gly283=
XM_011511734.2:c.1530C>A	XP_011510036.1:p.Gly510=
XM_011511735.2:c.1488C>A	XP_011510037.1:p.Gly496=
XM_011511736.2:c.1452C>A	XP_011510038.1:p.Gly484=
XM_011511750.3:c.*77C>A	XP_011510052.1:n.*77C>A
XM_011511756.2:c.957C>A	XP_011510058.1:p.Gly319=
XM_024453102.1:c.1302C>A	XP_024308870.1:p.Gly434=
XR_001738918.2:n.1784C>A
XR_001738919.2:n.1718C>A
XR_923004.3:n.2041C>A
XR_923007.3:n.1751C>A
XR_923011.3:n.1852C>A
NM_152783.5:c.1410C>A MANE Select	NP_689996.4:p.Gly470=
NM_001287249.2:c.1008C>A	NP_001274178.1:p.Gly336=
NM_001352824.2:c.849C>A	NP_001339753.1:p.Gly283=
NR_109778.2:n.1281C>A