Canonical Allele Identifier: CA2222202

Gene: D2HGDH

Linked Data

• dbSNP Id: rs200724208
• ExAC: 2:242707136 C / T
• gnomAD v2: 2-242707136-C-T
• gnomAD v3: 2-241767721-C-T
• gnomAD v4: 2-241767721-C-T
• COSMIC: COSM3962672
• MyVariant Identifiers: chr2:g.242707136C>T (hg19) ; chr2:g.241767721C>T (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1318C>T MANE Select	ENSP00000315351.4:p.Leu440=
ENST00000321264.8:c.1318C>T	ENSP00000315351.4:p.Leu440=
ENST00000400769.6:c.*68C>T	ENSP00000383580.2:n.*68C>T
ENST00000403782.5:c.916C>T	ENSP00000384723.1:p.Leu306=
ENST00000436747.5:c.*2554C>T	ENSP00000400212.1:n.*2554C>T
ENST00000445308.1:c.714C>T
ENST00000468064.5:n.1208C>T
ENST00000470343.5:n.799C>T
ENST00000473126.1:n.517C>T
ENST00000486953.5:n.1142C>T
ENST00000610344.1:c.*162C>T	ENSP00000481906.1:n.*162C>T
NM_001287249.1:c.916C>T	NP_001274178.1:p.Leu306=
NM_152783.4:c.1318C>T	NP_689996.4:p.Leu440=
NR_109778.1:n.1240C>T
XM_011511734.1:c.1438C>T	XP_011510036.1:p.Leu480=
XM_011511735.1:c.1396C>T	XP_011510037.1:p.Leu466=
XM_011511736.1:c.1360C>T	XP_011510038.1:p.Leu454=
XM_011511744.1:c.*50C>T	XP_011510046.1:n.*50C>T
XM_011511750.1:c.1230C>T	XP_011510052.1:p.Thr410=
XM_011511754.1:c.877C>T	XP_011510056.1:p.Leu293=
XM_011511755.1:c.868C>T	XP_011510057.1:p.Leu290=
XM_011511756.1:c.865C>T	XP_011510058.1:p.Leu289=
XR_923004.1:n.1950C>T
XR_923007.1:n.1660C>T
XR_923011.1:n.1761C>T
NM_001352824.1:c.757C>T	NP_001339753.1:p.Leu253=
XM_011511734.2:c.1438C>T	XP_011510036.1:p.Leu480=
XM_011511735.2:c.1396C>T	XP_011510037.1:p.Leu466=
XM_011511736.2:c.1360C>T	XP_011510038.1:p.Leu454=
XM_011511744.2:c.*50C>T	XP_011510046.1:n.*50C>T
XM_011511750.3:c.1230C>T	XP_011510052.1:p.Thr410=
XM_011511756.2:c.865C>T	XP_011510058.1:p.Leu289=
XM_024453102.1:c.1210C>T	XP_024308870.1:p.Leu404=
XR_001738918.2:n.1692C>T
XR_001738919.2:n.1626C>T
XR_923004.3:n.1949C>T
XR_923007.3:n.1659C>T
XR_923011.3:n.1760C>T
NM_152783.5:c.1318C>T MANE Select	NP_689996.4:p.Leu440=
NM_001287249.2:c.916C>T	NP_001274178.1:p.Leu306=
NM_001352824.2:c.757C>T	NP_001339753.1:p.Leu253=
NR_109778.2:n.1189C>T