Canonical Allele Identifier: CA351413119

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707206A>G (hg19) ; chr2:g.241767791A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767791A>G , CM000664.2:g.241767791A>G	GRCh38
NC_000002.11:g.242707206A>G , CM000664.1:g.242707206A>G	GRCh37
NC_000002.10:g.242355879A>G	NCBI36
NG_012012.1:g.38177A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1388A>G MANE Select	ENSP00000315351.4:p.Glu463Gly
ENST00000321264.8:c.1388A>G	ENSP00000315351.4:p.Glu463Gly
ENST00000400769.6:c.*138A>G	ENSP00000383580.2:n.*138A>G
ENST00000403782.5:c.986A>G	ENSP00000384723.1:p.Glu329Gly
ENST00000436747.5:c.*2624A>G	ENSP00000400212.1:n.*2624A>G
ENST00000445308.1:c.784A>G
ENST00000468064.5:n.1278A>G
ENST00000470343.5:n.869A>G
ENST00000473126.1:n.587A>G
ENST00000486953.5:n.1212A>G
ENST00000610344.1:c.*232A>G	ENSP00000481906.1:n.*232A>G
NM_001287249.1:c.986A>G	NP_001274178.1:p.Glu329Gly
NM_152783.4:c.1388A>G	NP_689996.4:p.Glu463Gly
NR_109778.1:n.1310A>G
XM_011511734.1:c.1508A>G	XP_011510036.1:p.Glu503Gly
XM_011511735.1:c.1466A>G	XP_011510037.1:p.Glu489Gly
XM_011511736.1:c.1430A>G	XP_011510038.1:p.Glu477Gly
XM_011511744.1:c.*120A>G	XP_011510046.1:n.*120A>G
XM_011511750.1:c.*55A>G	XP_011510052.1:n.*55A>G
XM_011511754.1:c.947A>G	XP_011510056.1:p.Glu316Gly
XM_011511755.1:c.938A>G	XP_011510057.1:p.Glu313Gly
XM_011511756.1:c.935A>G	XP_011510058.1:p.Glu312Gly
XR_923004.1:n.2020A>G
XR_923007.1:n.1730A>G
XR_923011.1:n.1831A>G
NM_001352824.1:c.827A>G	NP_001339753.1:p.Glu276Gly
XM_011511734.2:c.1508A>G	XP_011510036.1:p.Glu503Gly
XM_011511735.2:c.1466A>G	XP_011510037.1:p.Glu489Gly
XM_011511736.2:c.1430A>G	XP_011510038.1:p.Glu477Gly
XM_011511750.3:c.*55A>G	XP_011510052.1:n.*55A>G
XM_011511756.2:c.935A>G	XP_011510058.1:p.Glu312Gly
XM_024453102.1:c.1280A>G	XP_024308870.1:p.Glu427Gly
XR_001738918.2:n.1762A>G
XR_001738919.2:n.1696A>G
XR_923004.3:n.2019A>G
XR_923007.3:n.1729A>G
XR_923011.3:n.1830A>G
NM_152783.5:c.1388A>G MANE Select	NP_689996.4:p.Glu463Gly
NM_001287249.2:c.986A>G	NP_001274178.1:p.Glu329Gly
NM_001352824.2:c.827A>G	NP_001339753.1:p.Glu276Gly
NR_109778.2:n.1259A>G