Canonical Allele Identifier: CA432078875

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707126A>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767711A>T , CM000664.2:g.241767711A>T	GRCh38
NC_000002.11:g.242707126A>T , CM000664.1:g.242707126A>T	GRCh37
NC_000002.10:g.242355799A>T	NCBI36
NG_012012.1:g.38097A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1308A>T MANE Select	ENSP00000315351.4:p.Gly436=
ENST00000321264.8:c.1308A>T	ENSP00000315351.4:p.Gly436=
ENST00000400769.6:c.*58A>T	ENSP00000383580.2:n.*58A>T
ENST00000403782.5:c.906A>T	ENSP00000384723.1:p.Gly302=
ENST00000436747.5:c.*2544A>T	ENSP00000400212.1:n.*2544A>T
ENST00000445308.1:c.704A>T
ENST00000468064.5:n.1198A>T
ENST00000470343.5:n.789A>T
ENST00000473126.1:n.507A>T
ENST00000486953.5:n.1134-2A>T
ENST00000610344.1:c.*152A>T	ENSP00000481906.1:n.*152A>T
NM_001287249.1:c.906A>T	NP_001274178.1:p.Gly302=
NM_152783.4:c.1308A>T	NP_689996.4:p.Gly436=
NR_109778.1:n.1230A>T
XM_011511734.1:c.1428A>T	XP_011510036.1:p.Gly476=
XM_011511735.1:c.1386A>T	XP_011510037.1:p.Gly462=
XM_011511736.1:c.1350A>T	XP_011510038.1:p.Gly450=
XM_011511744.1:c.*40A>T	XP_011510046.1:n.*40A>T
XM_011511750.1:c.1220A>T	XP_011510052.1:p.Glu407Val
XM_011511754.1:c.867A>T	XP_011510056.1:p.Gly289=
XM_011511755.1:c.858A>T	XP_011510057.1:p.Gly286=
XM_011511756.1:c.855A>T	XP_011510058.1:p.Gly285=
XR_923004.1:n.1940A>T
XR_923007.1:n.1650A>T
XR_923011.1:n.1751A>T
NM_001352824.1:c.747A>T	NP_001339753.1:p.Gly249=
XM_011511734.2:c.1428A>T	XP_011510036.1:p.Gly476=
XM_011511735.2:c.1386A>T	XP_011510037.1:p.Gly462=
XM_011511736.2:c.1350A>T	XP_011510038.1:p.Gly450=
XM_011511744.2:c.*40A>T	XP_011510046.1:n.*40A>T
XM_011511750.3:c.1220A>T	XP_011510052.1:p.Glu407Val
XM_011511756.2:c.855A>T	XP_011510058.1:p.Gly285=
XM_024453102.1:c.1200A>T	XP_024308870.1:p.Gly400=
XR_001738918.2:n.1682A>T
XR_001738919.2:n.1616A>T
XR_923004.3:n.1939A>T
XR_923007.3:n.1649A>T
XR_923011.3:n.1750A>T
NM_152783.5:c.1308A>T MANE Select	NP_689996.4:p.Gly436=
NM_001287249.2:c.906A>T	NP_001274178.1:p.Gly302=
NM_001352824.2:c.747A>T	NP_001339753.1:p.Gly249=
NR_109778.2:n.1179A>T