Canonical Allele Identifier: CA2222201

Gene: D2HGDH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1318C>G MANE Select	ENSP00000315351.4:p.Leu440Val
ENST00000321264.8:c.1318C>G	ENSP00000315351.4:p.Leu440Val
ENST00000400769.6:c.*68C>G	ENSP00000383580.2:n.*68C>G
ENST00000403782.5:c.916C>G	ENSP00000384723.1:p.Leu306Val
ENST00000436747.5:c.*2554C>G	ENSP00000400212.1:n.*2554C>G
ENST00000445308.1:c.714C>G
ENST00000468064.5:n.1208C>G
ENST00000470343.5:n.799C>G
ENST00000473126.1:n.517C>G
ENST00000486953.5:n.1142C>G
ENST00000610344.1:c.*162C>G	ENSP00000481906.1:n.*162C>G
NM_001287249.1:c.916C>G	NP_001274178.1:p.Leu306Val
NM_152783.4:c.1318C>G	NP_689996.4:p.Leu440Val
NR_109778.1:n.1240C>G
XM_011511734.1:c.1438C>G	XP_011510036.1:p.Leu480Val
XM_011511735.1:c.1396C>G	XP_011510037.1:p.Leu466Val
XM_011511736.1:c.1360C>G	XP_011510038.1:p.Leu454Val
XM_011511744.1:c.*50C>G	XP_011510046.1:n.*50C>G
XM_011511750.1:c.1230C>G	XP_011510052.1:p.Thr410=
XM_011511754.1:c.877C>G	XP_011510056.1:p.Leu293Val
XM_011511755.1:c.868C>G	XP_011510057.1:p.Leu290Val
XM_011511756.1:c.865C>G	XP_011510058.1:p.Leu289Val
XR_923004.1:n.1950C>G
XR_923007.1:n.1660C>G
XR_923011.1:n.1761C>G
NM_001352824.1:c.757C>G	NP_001339753.1:p.Leu253Val
XM_011511734.2:c.1438C>G	XP_011510036.1:p.Leu480Val
XM_011511735.2:c.1396C>G	XP_011510037.1:p.Leu466Val
XM_011511736.2:c.1360C>G	XP_011510038.1:p.Leu454Val
XM_011511744.2:c.*50C>G	XP_011510046.1:n.*50C>G
XM_011511750.3:c.1230C>G	XP_011510052.1:p.Thr410=
XM_011511756.2:c.865C>G	XP_011510058.1:p.Leu289Val
XM_024453102.1:c.1210C>G	XP_024308870.1:p.Leu404Val
XR_001738918.2:n.1692C>G
XR_001738919.2:n.1626C>G
XR_923004.3:n.1949C>G
XR_923007.3:n.1659C>G
XR_923011.3:n.1760C>G
NM_152783.5:c.1318C>G MANE Select	NP_689996.4:p.Leu440Val
NM_001287249.2:c.916C>G	NP_001274178.1:p.Leu306Val
NM_001352824.2:c.757C>G	NP_001339753.1:p.Leu253Val
NR_109778.2:n.1189C>G