Canonical Allele Identifier: CA351413542

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707277G>T (hg19) ; chr2:g.241767862G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767862G>T , CM000664.2:g.241767862G>T	GRCh38
NC_000002.11:g.242707277G>T , CM000664.1:g.242707277G>T	GRCh37
NC_000002.10:g.242355950G>T	NCBI36
NG_012012.1:g.38248G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1459G>T MANE Select	ENSP00000315351.4:p.Gly487Cys
ENST00000321264.8:c.1459G>T	ENSP00000315351.4:p.Gly487Cys
ENST00000400769.6:c.*209G>T	ENSP00000383580.2:n.*209G>T
ENST00000403782.5:c.1057G>T	ENSP00000384723.1:p.Gly353Cys
ENST00000436747.5:c.*2695G>T	ENSP00000400212.1:n.*2695G>T
ENST00000445308.1:c.855G>T
ENST00000468064.5:n.1349G>T
ENST00000470343.5:n.940G>T
ENST00000473126.1:n.658G>T
ENST00000486953.5:n.1283G>T
ENST00000610344.1:c.*303G>T	ENSP00000481906.1:n.*303G>T
NM_001287249.1:c.1057G>T	NP_001274178.1:p.Gly353Cys
NM_152783.4:c.1459G>T	NP_689996.4:p.Gly487Cys
NR_109778.1:n.1381G>T
XM_011511734.1:c.1579G>T	XP_011510036.1:p.Gly527Cys
XM_011511735.1:c.1537G>T	XP_011510037.1:p.Gly513Cys
XM_011511736.1:c.1501G>T	XP_011510038.1:p.Gly501Cys
XM_011511754.1:c.1018G>T	XP_011510056.1:p.Gly340Cys
XM_011511755.1:c.1009G>T	XP_011510057.1:p.Gly337Cys
XM_011511756.1:c.1006G>T	XP_011510058.1:p.Gly336Cys
XR_923004.1:n.2091G>T
XR_923007.1:n.1801G>T
XR_923011.1:n.1902G>T
NM_001352824.1:c.898G>T	NP_001339753.1:p.Gly300Cys
XM_011511734.2:c.1579G>T	XP_011510036.1:p.Gly527Cys
XM_011511735.2:c.1537G>T	XP_011510037.1:p.Gly513Cys
XM_011511736.2:c.1501G>T	XP_011510038.1:p.Gly501Cys
XM_011511756.2:c.1006G>T	XP_011510058.1:p.Gly336Cys
XM_024453102.1:c.1351G>T	XP_024308870.1:p.Gly451Cys
XR_001738918.2:n.1833G>T
XR_001738919.2:n.1767G>T
XR_923004.3:n.2090G>T
XR_923007.3:n.1800G>T
XR_923011.3:n.1901G>T
NM_152783.5:c.1459G>T MANE Select	NP_689996.4:p.Gly487Cys
NM_001287249.2:c.1057G>T	NP_001274178.1:p.Gly353Cys
NM_001352824.2:c.898G>T	NP_001339753.1:p.Gly300Cys
NR_109778.2:n.1330G>T