Canonical Allele Identifier: CA351413544

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707278G>A (hg19) ; chr2:g.241767863G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767863G>A , CM000664.2:g.241767863G>A	GRCh38
NC_000002.11:g.242707278G>A , CM000664.1:g.242707278G>A	GRCh37
NC_000002.10:g.242355951G>A	NCBI36
NG_012012.1:g.38249G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1460G>A MANE Select	ENSP00000315351.4:p.Gly487Asp
ENST00000321264.8:c.1460G>A	ENSP00000315351.4:p.Gly487Asp
ENST00000400769.6:c.*210G>A	ENSP00000383580.2:n.*210G>A
ENST00000403782.5:c.1058G>A	ENSP00000384723.1:p.Gly353Asp
ENST00000436747.5:c.*2696G>A	ENSP00000400212.1:n.*2696G>A
ENST00000445308.1:c.856G>A
ENST00000468064.5:n.1350G>A
ENST00000470343.5:n.941G>A
ENST00000473126.1:n.659G>A
ENST00000486953.5:n.1284G>A
ENST00000610344.1:c.*304G>A	ENSP00000481906.1:n.*304G>A
NM_001287249.1:c.1058G>A	NP_001274178.1:p.Gly353Asp
NM_152783.4:c.1460G>A	NP_689996.4:p.Gly487Asp
NR_109778.1:n.1382G>A
XM_011511734.1:c.1580G>A	XP_011510036.1:p.Gly527Asp
XM_011511735.1:c.1538G>A	XP_011510037.1:p.Gly513Asp
XM_011511736.1:c.1502G>A	XP_011510038.1:p.Gly501Asp
XM_011511754.1:c.1019G>A	XP_011510056.1:p.Gly340Asp
XM_011511755.1:c.1010G>A	XP_011510057.1:p.Gly337Asp
XM_011511756.1:c.1007G>A	XP_011510058.1:p.Gly336Asp
XR_923004.1:n.2092G>A
XR_923007.1:n.1802G>A
XR_923011.1:n.1903G>A
NM_001352824.1:c.899G>A	NP_001339753.1:p.Gly300Asp
XM_011511734.2:c.1580G>A	XP_011510036.1:p.Gly527Asp
XM_011511735.2:c.1538G>A	XP_011510037.1:p.Gly513Asp
XM_011511736.2:c.1502G>A	XP_011510038.1:p.Gly501Asp
XM_011511756.2:c.1007G>A	XP_011510058.1:p.Gly336Asp
XM_024453102.1:c.1352G>A	XP_024308870.1:p.Gly451Asp
XR_001738918.2:n.1834G>A
XR_001738919.2:n.1768G>A
XR_923004.3:n.2091G>A
XR_923007.3:n.1801G>A
XR_923011.3:n.1902G>A
NM_152783.5:c.1460G>A MANE Select	NP_689996.4:p.Gly487Asp
NM_001287249.2:c.1058G>A	NP_001274178.1:p.Gly353Asp
NM_001352824.2:c.899G>A	NP_001339753.1:p.Gly300Asp
NR_109778.2:n.1331G>A