Canonical Allele Identifier: CA2222213

Gene: D2HGDH

Linked Data

• dbSNP Id: rs145300657
• ExAC: 2:242707174 G / T
• gnomAD v2: 2-242707174-G-T
• MyVariant Identifiers: chr2:g.242707174G>T (hg19) ; chr2:g.241767759G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767759G>T , CM000664.2:g.241767759G>T	GRCh38
NC_000002.11:g.242707174G>T , CM000664.1:g.242707174G>T	GRCh37
NC_000002.10:g.242355847G>T	NCBI36
NG_012012.1:g.38145G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1356G>T MANE Select	ENSP00000315351.4:p.Ser452=
ENST00000321264.8:c.1356G>T	ENSP00000315351.4:p.Ser452=
ENST00000400769.6:c.*106G>T	ENSP00000383580.2:n.*106G>T
ENST00000403782.5:c.954G>T	ENSP00000384723.1:p.Ser318=
ENST00000436747.5:c.*2592G>T	ENSP00000400212.1:n.*2592G>T
ENST00000445308.1:c.752G>T
ENST00000468064.5:n.1246G>T
ENST00000470343.5:n.837G>T
ENST00000473126.1:n.555G>T
ENST00000486953.5:n.1180G>T
ENST00000610344.1:c.*200G>T	ENSP00000481906.1:n.*200G>T
NM_001287249.1:c.954G>T	NP_001274178.1:p.Ser318=
NM_152783.4:c.1356G>T	NP_689996.4:p.Ser452=
NR_109778.1:n.1278G>T
XM_011511734.1:c.1476G>T	XP_011510036.1:p.Ser492=
XM_011511735.1:c.1434G>T	XP_011510037.1:p.Ser478=
XM_011511736.1:c.1398G>T	XP_011510038.1:p.Ser466=
XM_011511744.1:c.*88G>T	XP_011510046.1:n.*88G>T
XM_011511750.1:c.*23G>T	XP_011510052.1:n.*23G>T
XM_011511754.1:c.915G>T	XP_011510056.1:p.Ser305=
XM_011511755.1:c.906G>T	XP_011510057.1:p.Ser302=
XM_011511756.1:c.903G>T	XP_011510058.1:p.Ser301=
XR_923004.1:n.1988G>T
XR_923007.1:n.1698G>T
XR_923011.1:n.1799G>T
NM_001352824.1:c.795G>T	NP_001339753.1:p.Ser265=
XM_011511734.2:c.1476G>T	XP_011510036.1:p.Ser492=
XM_011511735.2:c.1434G>T	XP_011510037.1:p.Ser478=
XM_011511736.2:c.1398G>T	XP_011510038.1:p.Ser466=
XM_011511744.2:c.*88G>T	XP_011510046.1:n.*88G>T
XM_011511750.3:c.*23G>T	XP_011510052.1:n.*23G>T
XM_011511756.2:c.903G>T	XP_011510058.1:p.Ser301=
XM_024453102.1:c.1248G>T	XP_024308870.1:p.Ser416=
XR_001738918.2:n.1730G>T
XR_001738919.2:n.1664G>T
XR_923004.3:n.1987G>T
XR_923007.3:n.1697G>T
XR_923011.3:n.1798G>T
NM_152783.5:c.1356G>T MANE Select	NP_689996.4:p.Ser452=
NM_001287249.2:c.954G>T	NP_001274178.1:p.Ser318=
NM_001352824.2:c.795G>T	NP_001339753.1:p.Ser265=
NR_109778.2:n.1227G>T