Canonical Allele Identifier: CA351412921

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707137T>A (hg19) ; chr2:g.241767722T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767722T>A , CM000664.2:g.241767722T>A	GRCh38
NC_000002.11:g.242707137T>A , CM000664.1:g.242707137T>A	GRCh37
NC_000002.10:g.242355810T>A	NCBI36
NG_012012.1:g.38108T>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1319T>A MANE Select	ENSP00000315351.4:p.Leu440Gln
ENST00000321264.8:c.1319T>A	ENSP00000315351.4:p.Leu440Gln
ENST00000400769.6:c.*69T>A	ENSP00000383580.2:n.*69T>A
ENST00000403782.5:c.917T>A	ENSP00000384723.1:p.Leu306Gln
ENST00000436747.5:c.*2555T>A	ENSP00000400212.1:n.*2555T>A
ENST00000445308.1:c.715T>A
ENST00000468064.5:n.1209T>A
ENST00000470343.5:n.800T>A
ENST00000473126.1:n.518T>A
ENST00000486953.5:n.1143T>A
ENST00000610344.1:c.*163T>A	ENSP00000481906.1:n.*163T>A
NM_001287249.1:c.917T>A	NP_001274178.1:p.Leu306Gln
NM_152783.4:c.1319T>A	NP_689996.4:p.Leu440Gln
NR_109778.1:n.1241T>A
XM_011511734.1:c.1439T>A	XP_011510036.1:p.Leu480Gln
XM_011511735.1:c.1397T>A	XP_011510037.1:p.Leu466Gln
XM_011511736.1:c.1361T>A	XP_011510038.1:p.Leu454Gln
XM_011511744.1:c.*51T>A	XP_011510046.1:n.*51T>A
XM_011511750.1:c.1231T>A	XP_011510052.1:p.Cys411Ser
XM_011511754.1:c.878T>A	XP_011510056.1:p.Leu293Gln
XM_011511755.1:c.869T>A	XP_011510057.1:p.Leu290Gln
XM_011511756.1:c.866T>A	XP_011510058.1:p.Leu289Gln
XR_923004.1:n.1951T>A
XR_923007.1:n.1661T>A
XR_923011.1:n.1762T>A
NM_001352824.1:c.758T>A	NP_001339753.1:p.Leu253Gln
XM_011511734.2:c.1439T>A	XP_011510036.1:p.Leu480Gln
XM_011511735.2:c.1397T>A	XP_011510037.1:p.Leu466Gln
XM_011511736.2:c.1361T>A	XP_011510038.1:p.Leu454Gln
XM_011511744.2:c.*51T>A	XP_011510046.1:n.*51T>A
XM_011511750.3:c.1231T>A	XP_011510052.1:p.Cys411Ser
XM_011511756.2:c.866T>A	XP_011510058.1:p.Leu289Gln
XM_024453102.1:c.1211T>A	XP_024308870.1:p.Leu404Gln
XR_001738918.2:n.1693T>A
XR_001738919.2:n.1627T>A
XR_923004.3:n.1950T>A
XR_923007.3:n.1660T>A
XR_923011.3:n.1761T>A
NM_152783.5:c.1319T>A MANE Select	NP_689996.4:p.Leu440Gln
NM_001287249.2:c.917T>A	NP_001274178.1:p.Leu306Gln
NM_001352824.2:c.758T>A	NP_001339753.1:p.Leu253Gln
NR_109778.2:n.1190T>A