Canonical Allele Identifier: CA432079265

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707234C>G (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767819C>G , CM000664.2:g.241767819C>G	GRCh38
NC_000002.11:g.242707234C>G , CM000664.1:g.242707234C>G	GRCh37
NC_000002.10:g.242355907C>G	NCBI36
NG_012012.1:g.38205C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1416C>G MANE Select	ENSP00000315351.4:p.Val472=
ENST00000321264.8:c.1416C>G	ENSP00000315351.4:p.Val472=
ENST00000400769.6:c.*166C>G	ENSP00000383580.2:n.*166C>G
ENST00000403782.5:c.1014C>G	ENSP00000384723.1:p.Val338=
ENST00000436747.5:c.*2652C>G	ENSP00000400212.1:n.*2652C>G
ENST00000445308.1:c.812C>G
ENST00000468064.5:n.1306C>G
ENST00000470343.5:n.897C>G
ENST00000473126.1:n.615C>G
ENST00000486953.5:n.1240C>G
ENST00000610344.1:c.*260C>G	ENSP00000481906.1:n.*260C>G
NM_001287249.1:c.1014C>G	NP_001274178.1:p.Val338=
NM_152783.4:c.1416C>G	NP_689996.4:p.Val472=
NR_109778.1:n.1338C>G
XM_011511734.1:c.1536C>G	XP_011510036.1:p.Val512=
XM_011511735.1:c.1494C>G	XP_011510037.1:p.Val498=
XM_011511736.1:c.1458C>G	XP_011510038.1:p.Val486=
XM_011511750.1:c.*83C>G	XP_011510052.1:n.*83C>G
XM_011511754.1:c.975C>G	XP_011510056.1:p.Val325=
XM_011511755.1:c.966C>G	XP_011510057.1:p.Val322=
XM_011511756.1:c.963C>G	XP_011510058.1:p.Val321=
XR_923004.1:n.2048C>G
XR_923007.1:n.1758C>G
XR_923011.1:n.1859C>G
NM_001352824.1:c.855C>G	NP_001339753.1:p.Val285=
XM_011511734.2:c.1536C>G	XP_011510036.1:p.Val512=
XM_011511735.2:c.1494C>G	XP_011510037.1:p.Val498=
XM_011511736.2:c.1458C>G	XP_011510038.1:p.Val486=
XM_011511750.3:c.*83C>G	XP_011510052.1:n.*83C>G
XM_011511756.2:c.963C>G	XP_011510058.1:p.Val321=
XM_024453102.1:c.1308C>G	XP_024308870.1:p.Val436=
XR_001738918.2:n.1790C>G
XR_001738919.2:n.1724C>G
XR_923004.3:n.2047C>G
XR_923007.3:n.1757C>G
XR_923011.3:n.1858C>G
NM_152783.5:c.1416C>G MANE Select	NP_689996.4:p.Val472=
NM_001287249.2:c.1014C>G	NP_001274178.1:p.Val338=
NM_001352824.2:c.855C>G	NP_001339753.1:p.Val285=
NR_109778.2:n.1287C>G