Canonical Allele Identifier: CA351412951

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707143T>A (hg19) ; chr2:g.241767728T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767728T>A , CM000664.2:g.241767728T>A	GRCh38
NC_000002.11:g.242707143T>A , CM000664.1:g.242707143T>A	GRCh37
NC_000002.10:g.242355816T>A	NCBI36
NG_012012.1:g.38114T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1325T>A MANE Select	ENSP00000315351.4:p.Leu442His
ENST00000321264.8:c.1325T>A	ENSP00000315351.4:p.Leu442His
ENST00000400769.6:c.*75T>A	ENSP00000383580.2:n.*75T>A
ENST00000403782.5:c.923T>A	ENSP00000384723.1:p.Leu308His
ENST00000436747.5:c.*2561T>A	ENSP00000400212.1:n.*2561T>A
ENST00000445308.1:c.721T>A
ENST00000468064.5:n.1215T>A
ENST00000470343.5:n.806T>A
ENST00000473126.1:n.524T>A
ENST00000486953.5:n.1149T>A
ENST00000610344.1:c.*169T>A	ENSP00000481906.1:n.*169T>A
NM_001287249.1:c.923T>A	NP_001274178.1:p.Leu308His
NM_152783.4:c.1325T>A	NP_689996.4:p.Leu442His
NR_109778.1:n.1247T>A
XM_011511734.1:c.1445T>A	XP_011510036.1:p.Leu482His
XM_011511735.1:c.1403T>A	XP_011510037.1:p.Leu468His
XM_011511736.1:c.1367T>A	XP_011510038.1:p.Leu456His
XM_011511744.1:c.*57T>A	XP_011510046.1:n.*57T>A
XM_011511750.1:c.1237T>A	XP_011510052.1:p.Ser413Thr
XM_011511754.1:c.884T>A	XP_011510056.1:p.Leu295His
XM_011511755.1:c.875T>A	XP_011510057.1:p.Leu292His
XM_011511756.1:c.872T>A	XP_011510058.1:p.Leu291His
XR_923004.1:n.1957T>A
XR_923007.1:n.1667T>A
XR_923011.1:n.1768T>A
NM_001352824.1:c.764T>A	NP_001339753.1:p.Leu255His
XM_011511734.2:c.1445T>A	XP_011510036.1:p.Leu482His
XM_011511735.2:c.1403T>A	XP_011510037.1:p.Leu468His
XM_011511736.2:c.1367T>A	XP_011510038.1:p.Leu456His
XM_011511744.2:c.*57T>A	XP_011510046.1:n.*57T>A
XM_011511750.3:c.1237T>A	XP_011510052.1:p.Ser413Thr
XM_011511756.2:c.872T>A	XP_011510058.1:p.Leu291His
XM_024453102.1:c.1217T>A	XP_024308870.1:p.Leu406His
XR_001738918.2:n.1699T>A
XR_001738919.2:n.1633T>A
XR_923004.3:n.1956T>A
XR_923007.3:n.1666T>A
XR_923011.3:n.1767T>A
NM_152783.5:c.1325T>A MANE Select	NP_689996.4:p.Leu442His
NM_001287249.2:c.923T>A	NP_001274178.1:p.Leu308His
NM_001352824.2:c.764T>A	NP_001339753.1:p.Leu255His
NR_109778.2:n.1196T>A