Canonical Allele Identifier: CA351413144

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707217G>C (hg19) ; chr2:g.241767802G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767802G>C , CM000664.2:g.241767802G>C	GRCh38
NC_000002.11:g.242707217G>C , CM000664.1:g.242707217G>C	GRCh37
NC_000002.10:g.242355890G>C	NCBI36
NG_012012.1:g.38188G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1399G>C MANE Select	ENSP00000315351.4:p.Gly467Arg
ENST00000321264.8:c.1399G>C	ENSP00000315351.4:p.Gly467Arg
ENST00000400769.6:c.*149G>C	ENSP00000383580.2:n.*149G>C
ENST00000403782.5:c.997G>C	ENSP00000384723.1:p.Gly333Arg
ENST00000436747.5:c.*2635G>C	ENSP00000400212.1:n.*2635G>C
ENST00000445308.1:c.795G>C
ENST00000468064.5:n.1289G>C
ENST00000470343.5:n.880G>C
ENST00000473126.1:n.598G>C
ENST00000486953.5:n.1223G>C
ENST00000610344.1:c.*243G>C	ENSP00000481906.1:n.*243G>C
NM_001287249.1:c.997G>C	NP_001274178.1:p.Gly333Arg
NM_152783.4:c.1399G>C	NP_689996.4:p.Gly467Arg
NR_109778.1:n.1321G>C
XM_011511734.1:c.1519G>C	XP_011510036.1:p.Gly507Arg
XM_011511735.1:c.1477G>C	XP_011510037.1:p.Gly493Arg
XM_011511736.1:c.1441G>C	XP_011510038.1:p.Gly481Arg
XM_011511750.1:c.*66G>C	XP_011510052.1:n.*66G>C
XM_011511754.1:c.958G>C	XP_011510056.1:p.Gly320Arg
XM_011511755.1:c.949G>C	XP_011510057.1:p.Gly317Arg
XM_011511756.1:c.946G>C	XP_011510058.1:p.Gly316Arg
XR_923004.1:n.2031G>C
XR_923007.1:n.1741G>C
XR_923011.1:n.1842G>C
NM_001352824.1:c.838G>C	NP_001339753.1:p.Gly280Arg
XM_011511734.2:c.1519G>C	XP_011510036.1:p.Gly507Arg
XM_011511735.2:c.1477G>C	XP_011510037.1:p.Gly493Arg
XM_011511736.2:c.1441G>C	XP_011510038.1:p.Gly481Arg
XM_011511750.3:c.*66G>C	XP_011510052.1:n.*66G>C
XM_011511756.2:c.946G>C	XP_011510058.1:p.Gly316Arg
XM_024453102.1:c.1291G>C	XP_024308870.1:p.Gly431Arg
XR_001738918.2:n.1773G>C
XR_001738919.2:n.1707G>C
XR_923004.3:n.2030G>C
XR_923007.3:n.1740G>C
XR_923011.3:n.1841G>C
NM_152783.5:c.1399G>C MANE Select	NP_689996.4:p.Gly467Arg
NM_001287249.2:c.997G>C	NP_001274178.1:p.Gly333Arg
NM_001352824.2:c.838G>C	NP_001339753.1:p.Gly280Arg
NR_109778.2:n.1270G>C