Canonical Allele Identifier: CA351413752

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707314A>T (hg19) ; chr2:g.241767899A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767899A>T , CM000664.2:g.241767899A>T	GRCh38
NC_000002.11:g.242707314A>T , CM000664.1:g.242707314A>T	GRCh37
NC_000002.10:g.242355987A>T	NCBI36
NG_012012.1:g.38285A>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1496A>T MANE Select	ENSP00000315351.4:p.Gln499Leu
ENST00000321264.8:c.1496A>T	ENSP00000315351.4:p.Gln499Leu
ENST00000400769.6:c.*246A>T	ENSP00000383580.2:n.*246A>T
ENST00000403782.5:c.1094A>T	ENSP00000384723.1:p.Gln365Leu
ENST00000436747.5:c.*2732A>T	ENSP00000400212.1:n.*2732A>T
ENST00000445308.1:c.892A>T
ENST00000468064.5:n.1386A>T
ENST00000470343.5:n.977A>T
ENST00000473126.1:n.695A>T
ENST00000486953.5:n.1320A>T
ENST00000610344.1:c.*340A>T	ENSP00000481906.1:n.*340A>T
NM_001287249.1:c.1094A>T	NP_001274178.1:p.Gln365Leu
NM_152783.4:c.1496A>T	NP_689996.4:p.Gln499Leu
NR_109778.1:n.1418A>T
XM_011511734.1:c.1616A>T	XP_011510036.1:p.Gln539Leu
XM_011511735.1:c.1574A>T	XP_011510037.1:p.Gln525Leu
XM_011511736.1:c.1538A>T	XP_011510038.1:p.Gln513Leu
XM_011511754.1:c.1055A>T	XP_011510056.1:p.Gln352Leu
XM_011511755.1:c.1046A>T	XP_011510057.1:p.Gln349Leu
XM_011511756.1:c.1043A>T	XP_011510058.1:p.Gln348Leu
XR_923004.1:n.2128A>T
XR_923007.1:n.1838A>T
XR_923011.1:n.1939A>T
NM_001352824.1:c.935A>T	NP_001339753.1:p.Gln312Leu
XM_011511734.2:c.1616A>T	XP_011510036.1:p.Gln539Leu
XM_011511735.2:c.1574A>T	XP_011510037.1:p.Gln525Leu
XM_011511736.2:c.1538A>T	XP_011510038.1:p.Gln513Leu
XM_011511756.2:c.1043A>T	XP_011510058.1:p.Gln348Leu
XM_024453102.1:c.1388A>T	XP_024308870.1:p.Gln463Leu
XR_001738918.2:n.1870A>T
XR_001738919.2:n.1804A>T
XR_923004.3:n.2127A>T
XR_923007.3:n.1837A>T
XR_923011.3:n.1938A>T
NM_152783.5:c.1496A>T MANE Select	NP_689996.4:p.Gln499Leu
NM_001287249.2:c.1094A>T	NP_001274178.1:p.Gln365Leu
NM_001352824.2:c.935A>T	NP_001339753.1:p.Gln312Leu
NR_109778.2:n.1367A>T