Canonical Allele Identifier: CA351412918

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707136C>A (hg19) ; chr2:g.241767721C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767721C>A , CM000664.2:g.241767721C>A	GRCh38
NC_000002.11:g.242707136C>A , CM000664.1:g.242707136C>A	GRCh37
NC_000002.10:g.242355809C>A	NCBI36
NG_012012.1:g.38107C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1318C>A MANE Select	ENSP00000315351.4:p.Leu440Met
ENST00000321264.8:c.1318C>A	ENSP00000315351.4:p.Leu440Met
ENST00000400769.6:c.*68C>A	ENSP00000383580.2:n.*68C>A
ENST00000403782.5:c.916C>A	ENSP00000384723.1:p.Leu306Met
ENST00000436747.5:c.*2554C>A	ENSP00000400212.1:n.*2554C>A
ENST00000445308.1:c.714C>A
ENST00000468064.5:n.1208C>A
ENST00000470343.5:n.799C>A
ENST00000473126.1:n.517C>A
ENST00000486953.5:n.1142C>A
ENST00000610344.1:c.*162C>A	ENSP00000481906.1:n.*162C>A
NM_001287249.1:c.916C>A	NP_001274178.1:p.Leu306Met
NM_152783.4:c.1318C>A	NP_689996.4:p.Leu440Met
NR_109778.1:n.1240C>A
XM_011511734.1:c.1438C>A	XP_011510036.1:p.Leu480Met
XM_011511735.1:c.1396C>A	XP_011510037.1:p.Leu466Met
XM_011511736.1:c.1360C>A	XP_011510038.1:p.Leu454Met
XM_011511744.1:c.*50C>A	XP_011510046.1:n.*50C>A
XM_011511750.1:c.1230C>A	XP_011510052.1:p.Thr410=
XM_011511754.1:c.877C>A	XP_011510056.1:p.Leu293Met
XM_011511755.1:c.868C>A	XP_011510057.1:p.Leu290Met
XM_011511756.1:c.865C>A	XP_011510058.1:p.Leu289Met
XR_923004.1:n.1950C>A
XR_923007.1:n.1660C>A
XR_923011.1:n.1761C>A
NM_001352824.1:c.757C>A	NP_001339753.1:p.Leu253Met
XM_011511734.2:c.1438C>A	XP_011510036.1:p.Leu480Met
XM_011511735.2:c.1396C>A	XP_011510037.1:p.Leu466Met
XM_011511736.2:c.1360C>A	XP_011510038.1:p.Leu454Met
XM_011511744.2:c.*50C>A	XP_011510046.1:n.*50C>A
XM_011511750.3:c.1230C>A	XP_011510052.1:p.Thr410=
XM_011511756.2:c.865C>A	XP_011510058.1:p.Leu289Met
XM_024453102.1:c.1210C>A	XP_024308870.1:p.Leu404Met
XR_001738918.2:n.1692C>A
XR_001738919.2:n.1626C>A
XR_923004.3:n.1949C>A
XR_923007.3:n.1659C>A
XR_923011.3:n.1760C>A
NM_152783.5:c.1318C>A MANE Select	NP_689996.4:p.Leu440Met
NM_001287249.2:c.916C>A	NP_001274178.1:p.Leu306Met
NM_001352824.2:c.757C>A	NP_001339753.1:p.Leu253Met
NR_109778.2:n.1189C>A