Canonical Allele Identifier: CA351413085

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707190G>T (hg19) ; chr2:g.241767775G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767775G>T , CM000664.2:g.241767775G>T	GRCh38
NC_000002.11:g.242707190G>T , CM000664.1:g.242707190G>T	GRCh37
NC_000002.10:g.242355863G>T	NCBI36
NG_012012.1:g.38161G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1372G>T MANE Select	ENSP00000315351.4:p.Glu458Ter
ENST00000321264.8:c.1372G>T	ENSP00000315351.4:p.Glu458Ter
ENST00000400769.6:c.*122G>T	ENSP00000383580.2:n.*122G>T
ENST00000403782.5:c.970G>T	ENSP00000384723.1:p.Glu324Ter
ENST00000436747.5:c.*2608G>T	ENSP00000400212.1:n.*2608G>T
ENST00000445308.1:c.768G>T
ENST00000468064.5:n.1262G>T
ENST00000470343.5:n.853G>T
ENST00000473126.1:n.571G>T
ENST00000486953.5:n.1196G>T
ENST00000610344.1:c.*216G>T	ENSP00000481906.1:n.*216G>T
NM_001287249.1:c.970G>T	NP_001274178.1:p.Glu324Ter
NM_152783.4:c.1372G>T	NP_689996.4:p.Glu458Ter
NR_109778.1:n.1294G>T
XM_011511734.1:c.1492G>T	XP_011510036.1:p.Glu498Ter
XM_011511735.1:c.1450G>T	XP_011510037.1:p.Glu484Ter
XM_011511736.1:c.1414G>T	XP_011510038.1:p.Glu472Ter
XM_011511744.1:c.*104G>T	XP_011510046.1:n.*104G>T
XM_011511750.1:c.*39G>T	XP_011510052.1:n.*39G>T
XM_011511754.1:c.931G>T	XP_011510056.1:p.Glu311Ter
XM_011511755.1:c.922G>T	XP_011510057.1:p.Glu308Ter
XM_011511756.1:c.919G>T	XP_011510058.1:p.Glu307Ter
XR_923004.1:n.2004G>T
XR_923007.1:n.1714G>T
XR_923011.1:n.1815G>T
NM_001352824.1:c.811G>T	NP_001339753.1:p.Glu271Ter
XM_011511734.2:c.1492G>T	XP_011510036.1:p.Glu498Ter
XM_011511735.2:c.1450G>T	XP_011510037.1:p.Glu484Ter
XM_011511736.2:c.1414G>T	XP_011510038.1:p.Glu472Ter
XM_011511744.2:c.*104G>T	XP_011510046.1:n.*104G>T
XM_011511750.3:c.*39G>T	XP_011510052.1:n.*39G>T
XM_011511756.2:c.919G>T	XP_011510058.1:p.Glu307Ter
XM_024453102.1:c.1264G>T	XP_024308870.1:p.Glu422Ter
XR_001738918.2:n.1746G>T
XR_001738919.2:n.1680G>T
XR_923004.3:n.2003G>T
XR_923007.3:n.1713G>T
XR_923011.3:n.1814G>T
NM_152783.5:c.1372G>T MANE Select	NP_689996.4:p.Glu458Ter
NM_001287249.2:c.970G>T	NP_001274178.1:p.Glu324Ter
NM_001352824.2:c.811G>T	NP_001339753.1:p.Glu271Ter
NR_109778.2:n.1243G>T