Canonical Allele Identifier: CA351413282

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707226G>C (hg19) ; chr2:g.241767811G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767811G>C , CM000664.2:g.241767811G>C	GRCh38
NC_000002.11:g.242707226G>C , CM000664.1:g.242707226G>C	GRCh37
NC_000002.10:g.242355899G>C	NCBI36
NG_012012.1:g.38197G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1408G>C MANE Select	ENSP00000315351.4:p.Gly470Arg
ENST00000321264.8:c.1408G>C	ENSP00000315351.4:p.Gly470Arg
ENST00000400769.6:c.*158G>C	ENSP00000383580.2:n.*158G>C
ENST00000403782.5:c.1006G>C	ENSP00000384723.1:p.Gly336Arg
ENST00000436747.5:c.*2644G>C	ENSP00000400212.1:n.*2644G>C
ENST00000445308.1:c.804G>C
ENST00000468064.5:n.1298G>C
ENST00000470343.5:n.889G>C
ENST00000473126.1:n.607G>C
ENST00000486953.5:n.1232G>C
ENST00000610344.1:c.*252G>C	ENSP00000481906.1:n.*252G>C
NM_001287249.1:c.1006G>C	NP_001274178.1:p.Gly336Arg
NM_152783.4:c.1408G>C	NP_689996.4:p.Gly470Arg
NR_109778.1:n.1330G>C
XM_011511734.1:c.1528G>C	XP_011510036.1:p.Gly510Arg
XM_011511735.1:c.1486G>C	XP_011510037.1:p.Gly496Arg
XM_011511736.1:c.1450G>C	XP_011510038.1:p.Gly484Arg
XM_011511750.1:c.*75G>C	XP_011510052.1:n.*75G>C
XM_011511754.1:c.967G>C	XP_011510056.1:p.Gly323Arg
XM_011511755.1:c.958G>C	XP_011510057.1:p.Gly320Arg
XM_011511756.1:c.955G>C	XP_011510058.1:p.Gly319Arg
XR_923004.1:n.2040G>C
XR_923007.1:n.1750G>C
XR_923011.1:n.1851G>C
NM_001352824.1:c.847G>C	NP_001339753.1:p.Gly283Arg
XM_011511734.2:c.1528G>C	XP_011510036.1:p.Gly510Arg
XM_011511735.2:c.1486G>C	XP_011510037.1:p.Gly496Arg
XM_011511736.2:c.1450G>C	XP_011510038.1:p.Gly484Arg
XM_011511750.3:c.*75G>C	XP_011510052.1:n.*75G>C
XM_011511756.2:c.955G>C	XP_011510058.1:p.Gly319Arg
XM_024453102.1:c.1300G>C	XP_024308870.1:p.Gly434Arg
XR_001738918.2:n.1782G>C
XR_001738919.2:n.1716G>C
XR_923004.3:n.2039G>C
XR_923007.3:n.1749G>C
XR_923011.3:n.1850G>C
NM_152783.5:c.1408G>C MANE Select	NP_689996.4:p.Gly470Arg
NM_001287249.2:c.1006G>C	NP_001274178.1:p.Gly336Arg
NM_001352824.2:c.847G>C	NP_001339753.1:p.Gly283Arg
NR_109778.2:n.1279G>C