Canonical Allele Identifier: CA351413079

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707187C>G (hg19) ; chr2:g.241767772C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767772C>G , CM000664.2:g.241767772C>G	GRCh38
NC_000002.11:g.242707187C>G , CM000664.1:g.242707187C>G	GRCh37
NC_000002.10:g.242355860C>G	NCBI36
NG_012012.1:g.38158C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1369C>G MANE Select	ENSP00000315351.4:p.Leu457Val
ENST00000321264.8:c.1369C>G	ENSP00000315351.4:p.Leu457Val
ENST00000400769.6:c.*119C>G	ENSP00000383580.2:n.*119C>G
ENST00000403782.5:c.967C>G	ENSP00000384723.1:p.Leu323Val
ENST00000436747.5:c.*2605C>G	ENSP00000400212.1:n.*2605C>G
ENST00000445308.1:c.765C>G
ENST00000468064.5:n.1259C>G
ENST00000470343.5:n.850C>G
ENST00000473126.1:n.568C>G
ENST00000486953.5:n.1193C>G
ENST00000610344.1:c.*213C>G	ENSP00000481906.1:n.*213C>G
NM_001287249.1:c.967C>G	NP_001274178.1:p.Leu323Val
NM_152783.4:c.1369C>G	NP_689996.4:p.Leu457Val
NR_109778.1:n.1291C>G
XM_011511734.1:c.1489C>G	XP_011510036.1:p.Leu497Val
XM_011511735.1:c.1447C>G	XP_011510037.1:p.Leu483Val
XM_011511736.1:c.1411C>G	XP_011510038.1:p.Leu471Val
XM_011511744.1:c.*101C>G	XP_011510046.1:n.*101C>G
XM_011511750.1:c.*36C>G	XP_011510052.1:n.*36C>G
XM_011511754.1:c.928C>G	XP_011510056.1:p.Leu310Val
XM_011511755.1:c.919C>G	XP_011510057.1:p.Leu307Val
XM_011511756.1:c.916C>G	XP_011510058.1:p.Leu306Val
XR_923004.1:n.2001C>G
XR_923007.1:n.1711C>G
XR_923011.1:n.1812C>G
NM_001352824.1:c.808C>G	NP_001339753.1:p.Leu270Val
XM_011511734.2:c.1489C>G	XP_011510036.1:p.Leu497Val
XM_011511735.2:c.1447C>G	XP_011510037.1:p.Leu483Val
XM_011511736.2:c.1411C>G	XP_011510038.1:p.Leu471Val
XM_011511744.2:c.*101C>G	XP_011510046.1:n.*101C>G
XM_011511750.3:c.*36C>G	XP_011510052.1:n.*36C>G
XM_011511756.2:c.916C>G	XP_011510058.1:p.Leu306Val
XM_024453102.1:c.1261C>G	XP_024308870.1:p.Leu421Val
XR_001738918.2:n.1743C>G
XR_001738919.2:n.1677C>G
XR_923004.3:n.2000C>G
XR_923007.3:n.1710C>G
XR_923011.3:n.1811C>G
NM_152783.5:c.1369C>G MANE Select	NP_689996.4:p.Leu457Val
NM_001287249.2:c.967C>G	NP_001274178.1:p.Leu323Val
NM_001352824.2:c.808C>G	NP_001339753.1:p.Leu270Val
NR_109778.2:n.1240C>G