Canonical Allele Identifier: CA351413070

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707182C>G (hg19) ; chr2:g.241767767C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767767C>G , CM000664.2:g.241767767C>G	GRCh38
NC_000002.11:g.242707182C>G , CM000664.1:g.242707182C>G	GRCh37
NC_000002.10:g.242355855C>G	NCBI36
NG_012012.1:g.38153C>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1364C>G MANE Select	ENSP00000315351.4:p.Ala455Gly
ENST00000321264.8:c.1364C>G	ENSP00000315351.4:p.Ala455Gly
ENST00000400769.6:c.*114C>G	ENSP00000383580.2:n.*114C>G
ENST00000403782.5:c.962C>G	ENSP00000384723.1:p.Ala321Gly
ENST00000436747.5:c.*2600C>G	ENSP00000400212.1:n.*2600C>G
ENST00000445308.1:c.760C>G
ENST00000468064.5:n.1254C>G
ENST00000470343.5:n.845C>G
ENST00000473126.1:n.563C>G
ENST00000486953.5:n.1188C>G
ENST00000610344.1:c.*208C>G	ENSP00000481906.1:n.*208C>G
NM_001287249.1:c.962C>G	NP_001274178.1:p.Ala321Gly
NM_152783.4:c.1364C>G	NP_689996.4:p.Ala455Gly
NR_109778.1:n.1286C>G
XM_011511734.1:c.1484C>G	XP_011510036.1:p.Ala495Gly
XM_011511735.1:c.1442C>G	XP_011510037.1:p.Ala481Gly
XM_011511736.1:c.1406C>G	XP_011510038.1:p.Ala469Gly
XM_011511744.1:c.*96C>G	XP_011510046.1:n.*96C>G
XM_011511750.1:c.*31C>G	XP_011510052.1:n.*31C>G
XM_011511754.1:c.923C>G	XP_011510056.1:p.Ala308Gly
XM_011511755.1:c.914C>G	XP_011510057.1:p.Ala305Gly
XM_011511756.1:c.911C>G	XP_011510058.1:p.Ala304Gly
XR_923004.1:n.1996C>G
XR_923007.1:n.1706C>G
XR_923011.1:n.1807C>G
NM_001352824.1:c.803C>G	NP_001339753.1:p.Ala268Gly
XM_011511734.2:c.1484C>G	XP_011510036.1:p.Ala495Gly
XM_011511735.2:c.1442C>G	XP_011510037.1:p.Ala481Gly
XM_011511736.2:c.1406C>G	XP_011510038.1:p.Ala469Gly
XM_011511744.2:c.*96C>G	XP_011510046.1:n.*96C>G
XM_011511750.3:c.*31C>G	XP_011510052.1:n.*31C>G
XM_011511756.2:c.911C>G	XP_011510058.1:p.Ala304Gly
XM_024453102.1:c.1256C>G	XP_024308870.1:p.Ala419Gly
XR_001738918.2:n.1738C>G
XR_001738919.2:n.1672C>G
XR_923004.3:n.1995C>G
XR_923007.3:n.1705C>G
XR_923011.3:n.1806C>G
NM_152783.5:c.1364C>G MANE Select	NP_689996.4:p.Ala455Gly
NM_001287249.2:c.962C>G	NP_001274178.1:p.Ala321Gly
NM_001352824.2:c.803C>G	NP_001339753.1:p.Ala268Gly
NR_109778.2:n.1235C>G