Canonical Allele Identifier: CA351412946

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707142C>A (hg19) ; chr2:g.241767727C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767727C>A , CM000664.2:g.241767727C>A	GRCh38
NC_000002.11:g.242707142C>A , CM000664.1:g.242707142C>A	GRCh37
NC_000002.10:g.242355815C>A	NCBI36
NG_012012.1:g.38113C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1324C>A MANE Select	ENSP00000315351.4:p.Leu442Ile
ENST00000321264.8:c.1324C>A	ENSP00000315351.4:p.Leu442Ile
ENST00000400769.6:c.*74C>A	ENSP00000383580.2:n.*74C>A
ENST00000403782.5:c.922C>A	ENSP00000384723.1:p.Leu308Ile
ENST00000436747.5:c.*2560C>A	ENSP00000400212.1:n.*2560C>A
ENST00000445308.1:c.720C>A
ENST00000468064.5:n.1214C>A
ENST00000470343.5:n.805C>A
ENST00000473126.1:n.523C>A
ENST00000486953.5:n.1148C>A
ENST00000610344.1:c.*168C>A	ENSP00000481906.1:n.*168C>A
NM_001287249.1:c.922C>A	NP_001274178.1:p.Leu308Ile
NM_152783.4:c.1324C>A	NP_689996.4:p.Leu442Ile
NR_109778.1:n.1246C>A
XM_011511734.1:c.1444C>A	XP_011510036.1:p.Leu482Ile
XM_011511735.1:c.1402C>A	XP_011510037.1:p.Leu468Ile
XM_011511736.1:c.1366C>A	XP_011510038.1:p.Leu456Ile
XM_011511744.1:c.*56C>A	XP_011510046.1:n.*56C>A
XM_011511750.1:c.1236C>A	XP_011510052.1:p.Thr412=
XM_011511754.1:c.883C>A	XP_011510056.1:p.Leu295Ile
XM_011511755.1:c.874C>A	XP_011510057.1:p.Leu292Ile
XM_011511756.1:c.871C>A	XP_011510058.1:p.Leu291Ile
XR_923004.1:n.1956C>A
XR_923007.1:n.1666C>A
XR_923011.1:n.1767C>A
NM_001352824.1:c.763C>A	NP_001339753.1:p.Leu255Ile
XM_011511734.2:c.1444C>A	XP_011510036.1:p.Leu482Ile
XM_011511735.2:c.1402C>A	XP_011510037.1:p.Leu468Ile
XM_011511736.2:c.1366C>A	XP_011510038.1:p.Leu456Ile
XM_011511744.2:c.*56C>A	XP_011510046.1:n.*56C>A
XM_011511750.3:c.1236C>A	XP_011510052.1:p.Thr412=
XM_011511756.2:c.871C>A	XP_011510058.1:p.Leu291Ile
XM_024453102.1:c.1216C>A	XP_024308870.1:p.Leu406Ile
XR_001738918.2:n.1698C>A
XR_001738919.2:n.1632C>A
XR_923004.3:n.1955C>A
XR_923007.3:n.1665C>A
XR_923011.3:n.1766C>A
NM_152783.5:c.1324C>A MANE Select	NP_689996.4:p.Leu442Ile
NM_001287249.2:c.922C>A	NP_001274178.1:p.Leu308Ile
NM_001352824.2:c.763C>A	NP_001339753.1:p.Leu255Ile
NR_109778.2:n.1195C>A