Canonical Allele Identifier: CA351413051

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707170C>G (hg19) ; chr2:g.241767755C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767755C>G , CM000664.2:g.241767755C>G	GRCh38
NC_000002.11:g.242707170C>G , CM000664.1:g.242707170C>G	GRCh37
NC_000002.10:g.242355843C>G	NCBI36
NG_012012.1:g.38141C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1352C>G MANE Select	ENSP00000315351.4:p.Pro451Arg
ENST00000321264.8:c.1352C>G	ENSP00000315351.4:p.Pro451Arg
ENST00000400769.6:c.*102C>G	ENSP00000383580.2:n.*102C>G
ENST00000403782.5:c.950C>G	ENSP00000384723.1:p.Pro317Arg
ENST00000436747.5:c.*2588C>G	ENSP00000400212.1:n.*2588C>G
ENST00000445308.1:c.748C>G
ENST00000468064.5:n.1242C>G
ENST00000470343.5:n.833C>G
ENST00000473126.1:n.551C>G
ENST00000486953.5:n.1176C>G
ENST00000610344.1:c.*196C>G	ENSP00000481906.1:n.*196C>G
NM_001287249.1:c.950C>G	NP_001274178.1:p.Pro317Arg
NM_152783.4:c.1352C>G	NP_689996.4:p.Pro451Arg
NR_109778.1:n.1274C>G
XM_011511734.1:c.1472C>G	XP_011510036.1:p.Pro491Arg
XM_011511735.1:c.1430C>G	XP_011510037.1:p.Pro477Arg
XM_011511736.1:c.1394C>G	XP_011510038.1:p.Pro465Arg
XM_011511744.1:c.*84C>G	XP_011510046.1:n.*84C>G
XM_011511750.1:c.*19C>G	XP_011510052.1:n.*19C>G
XM_011511754.1:c.911C>G	XP_011510056.1:p.Pro304Arg
XM_011511755.1:c.902C>G	XP_011510057.1:p.Pro301Arg
XM_011511756.1:c.899C>G	XP_011510058.1:p.Pro300Arg
XR_923004.1:n.1984C>G
XR_923007.1:n.1694C>G
XR_923011.1:n.1795C>G
NM_001352824.1:c.791C>G	NP_001339753.1:p.Pro264Arg
XM_011511734.2:c.1472C>G	XP_011510036.1:p.Pro491Arg
XM_011511735.2:c.1430C>G	XP_011510037.1:p.Pro477Arg
XM_011511736.2:c.1394C>G	XP_011510038.1:p.Pro465Arg
XM_011511744.2:c.*84C>G	XP_011510046.1:n.*84C>G
XM_011511750.3:c.*19C>G	XP_011510052.1:n.*19C>G
XM_011511756.2:c.899C>G	XP_011510058.1:p.Pro300Arg
XM_024453102.1:c.1244C>G	XP_024308870.1:p.Pro415Arg
XR_001738918.2:n.1726C>G
XR_001738919.2:n.1660C>G
XR_923004.3:n.1983C>G
XR_923007.3:n.1693C>G
XR_923011.3:n.1794C>G
NM_152783.5:c.1352C>G MANE Select	NP_689996.4:p.Pro451Arg
NM_001287249.2:c.950C>G	NP_001274178.1:p.Pro317Arg
NM_001352824.2:c.791C>G	NP_001339753.1:p.Pro264Arg
NR_109778.2:n.1223C>G