Canonical Allele Identifier: CA351413088

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707191A>T (hg19) ; chr2:g.241767776A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767776A>T , CM000664.2:g.241767776A>T	GRCh38
NC_000002.11:g.242707191A>T , CM000664.1:g.242707191A>T	GRCh37
NC_000002.10:g.242355864A>T	NCBI36
NG_012012.1:g.38162A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1373A>T MANE Select	ENSP00000315351.4:p.Glu458Val
ENST00000321264.8:c.1373A>T	ENSP00000315351.4:p.Glu458Val
ENST00000400769.6:c.*123A>T	ENSP00000383580.2:n.*123A>T
ENST00000403782.5:c.971A>T	ENSP00000384723.1:p.Glu324Val
ENST00000436747.5:c.*2609A>T	ENSP00000400212.1:n.*2609A>T
ENST00000445308.1:c.769A>T
ENST00000468064.5:n.1263A>T
ENST00000470343.5:n.854A>T
ENST00000473126.1:n.572A>T
ENST00000486953.5:n.1197A>T
ENST00000610344.1:c.*217A>T	ENSP00000481906.1:n.*217A>T
NM_001287249.1:c.971A>T	NP_001274178.1:p.Glu324Val
NM_152783.4:c.1373A>T	NP_689996.4:p.Glu458Val
NR_109778.1:n.1295A>T
XM_011511734.1:c.1493A>T	XP_011510036.1:p.Glu498Val
XM_011511735.1:c.1451A>T	XP_011510037.1:p.Glu484Val
XM_011511736.1:c.1415A>T	XP_011510038.1:p.Glu472Val
XM_011511744.1:c.*105A>T	XP_011510046.1:n.*105A>T
XM_011511750.1:c.*40A>T	XP_011510052.1:n.*40A>T
XM_011511754.1:c.932A>T	XP_011510056.1:p.Glu311Val
XM_011511755.1:c.923A>T	XP_011510057.1:p.Glu308Val
XM_011511756.1:c.920A>T	XP_011510058.1:p.Glu307Val
XR_923004.1:n.2005A>T
XR_923007.1:n.1715A>T
XR_923011.1:n.1816A>T
NM_001352824.1:c.812A>T	NP_001339753.1:p.Glu271Val
XM_011511734.2:c.1493A>T	XP_011510036.1:p.Glu498Val
XM_011511735.2:c.1451A>T	XP_011510037.1:p.Glu484Val
XM_011511736.2:c.1415A>T	XP_011510038.1:p.Glu472Val
XM_011511744.2:c.*105A>T	XP_011510046.1:n.*105A>T
XM_011511750.3:c.*40A>T	XP_011510052.1:n.*40A>T
XM_011511756.2:c.920A>T	XP_011510058.1:p.Glu307Val
XM_024453102.1:c.1265A>T	XP_024308870.1:p.Glu422Val
XR_001738918.2:n.1747A>T
XR_001738919.2:n.1681A>T
XR_923004.3:n.2004A>T
XR_923007.3:n.1714A>T
XR_923011.3:n.1815A>T
NM_152783.5:c.1373A>T MANE Select	NP_689996.4:p.Glu458Val
NM_001287249.2:c.971A>T	NP_001274178.1:p.Glu324Val
NM_001352824.2:c.812A>T	NP_001339753.1:p.Glu271Val
NR_109778.2:n.1244A>T