Canonical Allele Identifier: CA351413020

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707157G>T (hg19) ; chr2:g.241767742G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767742G>T , CM000664.2:g.241767742G>T	GRCh38
NC_000002.11:g.242707157G>T , CM000664.1:g.242707157G>T	GRCh37
NC_000002.10:g.242355830G>T	NCBI36
NG_012012.1:g.38128G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1339G>T MANE Select	ENSP00000315351.4:p.Glu447Ter
ENST00000321264.8:c.1339G>T	ENSP00000315351.4:p.Glu447Ter
ENST00000400769.6:c.*89G>T	ENSP00000383580.2:n.*89G>T
ENST00000403782.5:c.937G>T	ENSP00000384723.1:p.Glu313Ter
ENST00000436747.5:c.*2575G>T	ENSP00000400212.1:n.*2575G>T
ENST00000445308.1:c.735G>T
ENST00000468064.5:n.1229G>T
ENST00000470343.5:n.820G>T
ENST00000473126.1:n.538G>T
ENST00000486953.5:n.1163G>T
ENST00000610344.1:c.*183G>T	ENSP00000481906.1:n.*183G>T
NM_001287249.1:c.937G>T	NP_001274178.1:p.Glu313Ter
NM_152783.4:c.1339G>T	NP_689996.4:p.Glu447Ter
NR_109778.1:n.1261G>T
XM_011511734.1:c.1459G>T	XP_011510036.1:p.Glu487Ter
XM_011511735.1:c.1417G>T	XP_011510037.1:p.Glu473Ter
XM_011511736.1:c.1381G>T	XP_011510038.1:p.Glu461Ter
XM_011511744.1:c.*71G>T	XP_011510046.1:n.*71G>T
XM_011511750.1:c.*6G>T	XP_011510052.1:n.*6G>T
XM_011511754.1:c.898G>T	XP_011510056.1:p.Glu300Ter
XM_011511755.1:c.889G>T	XP_011510057.1:p.Glu297Ter
XM_011511756.1:c.886G>T	XP_011510058.1:p.Glu296Ter
XR_923004.1:n.1971G>T
XR_923007.1:n.1681G>T
XR_923011.1:n.1782G>T
NM_001352824.1:c.778G>T	NP_001339753.1:p.Glu260Ter
XM_011511734.2:c.1459G>T	XP_011510036.1:p.Glu487Ter
XM_011511735.2:c.1417G>T	XP_011510037.1:p.Glu473Ter
XM_011511736.2:c.1381G>T	XP_011510038.1:p.Glu461Ter
XM_011511744.2:c.*71G>T	XP_011510046.1:n.*71G>T
XM_011511750.3:c.*6G>T	XP_011510052.1:n.*6G>T
XM_011511756.2:c.886G>T	XP_011510058.1:p.Glu296Ter
XM_024453102.1:c.1231G>T	XP_024308870.1:p.Glu411Ter
XR_001738918.2:n.1713G>T
XR_001738919.2:n.1647G>T
XR_923004.3:n.1970G>T
XR_923007.3:n.1680G>T
XR_923011.3:n.1781G>T
NM_152783.5:c.1339G>T MANE Select	NP_689996.4:p.Glu447Ter
NM_001287249.2:c.937G>T	NP_001274178.1:p.Glu313Ter
NM_001352824.2:c.778G>T	NP_001339753.1:p.Glu260Ter
NR_109778.2:n.1210G>T