Canonical Allele Identifier: CA351413091

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707193C>A (hg19) ; chr2:g.241767778C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767778C>A , CM000664.2:g.241767778C>A	GRCh38
NC_000002.11:g.242707193C>A , CM000664.1:g.242707193C>A	GRCh37
NC_000002.10:g.242355866C>A	NCBI36
NG_012012.1:g.38164C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1375C>A MANE Select	ENSP00000315351.4:p.Pro459Thr
ENST00000321264.8:c.1375C>A	ENSP00000315351.4:p.Pro459Thr
ENST00000400769.6:c.*125C>A	ENSP00000383580.2:n.*125C>A
ENST00000403782.5:c.973C>A	ENSP00000384723.1:p.Pro325Thr
ENST00000436747.5:c.*2611C>A	ENSP00000400212.1:n.*2611C>A
ENST00000445308.1:c.771C>A
ENST00000468064.5:n.1265C>A
ENST00000470343.5:n.856C>A
ENST00000473126.1:n.574C>A
ENST00000486953.5:n.1199C>A
ENST00000610344.1:c.*219C>A	ENSP00000481906.1:n.*219C>A
NM_001287249.1:c.973C>A	NP_001274178.1:p.Pro325Thr
NM_152783.4:c.1375C>A	NP_689996.4:p.Pro459Thr
NR_109778.1:n.1297C>A
XM_011511734.1:c.1495C>A	XP_011510036.1:p.Pro499Thr
XM_011511735.1:c.1453C>A	XP_011510037.1:p.Pro485Thr
XM_011511736.1:c.1417C>A	XP_011510038.1:p.Pro473Thr
XM_011511744.1:c.*107C>A	XP_011510046.1:n.*107C>A
XM_011511750.1:c.*42C>A	XP_011510052.1:n.*42C>A
XM_011511754.1:c.934C>A	XP_011510056.1:p.Pro312Thr
XM_011511755.1:c.925C>A	XP_011510057.1:p.Pro309Thr
XM_011511756.1:c.922C>A	XP_011510058.1:p.Pro308Thr
XR_923004.1:n.2007C>A
XR_923007.1:n.1717C>A
XR_923011.1:n.1818C>A
NM_001352824.1:c.814C>A	NP_001339753.1:p.Pro272Thr
XM_011511734.2:c.1495C>A	XP_011510036.1:p.Pro499Thr
XM_011511735.2:c.1453C>A	XP_011510037.1:p.Pro485Thr
XM_011511736.2:c.1417C>A	XP_011510038.1:p.Pro473Thr
XM_011511744.2:c.*107C>A	XP_011510046.1:n.*107C>A
XM_011511750.3:c.*42C>A	XP_011510052.1:n.*42C>A
XM_011511756.2:c.922C>A	XP_011510058.1:p.Pro308Thr
XM_024453102.1:c.1267C>A	XP_024308870.1:p.Pro423Thr
XR_001738918.2:n.1749C>A
XR_001738919.2:n.1683C>A
XR_923004.3:n.2006C>A
XR_923007.3:n.1716C>A
XR_923011.3:n.1817C>A
NM_152783.5:c.1375C>A MANE Select	NP_689996.4:p.Pro459Thr
NM_001287249.2:c.973C>A	NP_001274178.1:p.Pro325Thr
NM_001352824.2:c.814C>A	NP_001339753.1:p.Pro272Thr
NR_109778.2:n.1246C>A