Canonical Allele Identifier: CA351413649

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241767881-G-A
• MyVariant Identifiers: chr2:g.242707296G>A (hg19) ; chr2:g.241767881G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767881G>A , CM000664.2:g.241767881G>A	GRCh38
NC_000002.11:g.242707296G>A , CM000664.1:g.242707296G>A	GRCh37
NC_000002.10:g.242355969G>A	NCBI36
NG_012012.1:g.38267G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1478G>A MANE Select	ENSP00000315351.4:p.Gly493Glu
ENST00000321264.8:c.1478G>A	ENSP00000315351.4:p.Gly493Glu
ENST00000400769.6:c.*228G>A	ENSP00000383580.2:n.*228G>A
ENST00000403782.5:c.1076G>A	ENSP00000384723.1:p.Gly359Glu
ENST00000436747.5:c.*2714G>A	ENSP00000400212.1:n.*2714G>A
ENST00000445308.1:c.874G>A
ENST00000468064.5:n.1368G>A
ENST00000470343.5:n.959G>A
ENST00000473126.1:n.677G>A
ENST00000486953.5:n.1302G>A
ENST00000610344.1:c.*322G>A	ENSP00000481906.1:n.*322G>A
NM_001287249.1:c.1076G>A	NP_001274178.1:p.Gly359Glu
NM_152783.4:c.1478G>A	NP_689996.4:p.Gly493Glu
NR_109778.1:n.1400G>A
XM_011511734.1:c.1598G>A	XP_011510036.1:p.Gly533Glu
XM_011511735.1:c.1556G>A	XP_011510037.1:p.Gly519Glu
XM_011511736.1:c.1520G>A	XP_011510038.1:p.Gly507Glu
XM_011511754.1:c.1037G>A	XP_011510056.1:p.Gly346Glu
XM_011511755.1:c.1028G>A	XP_011510057.1:p.Gly343Glu
XM_011511756.1:c.1025G>A	XP_011510058.1:p.Gly342Glu
XR_923004.1:n.2110G>A
XR_923007.1:n.1820G>A
XR_923011.1:n.1921G>A
NM_001352824.1:c.917G>A	NP_001339753.1:p.Gly306Glu
XM_011511734.2:c.1598G>A	XP_011510036.1:p.Gly533Glu
XM_011511735.2:c.1556G>A	XP_011510037.1:p.Gly519Glu
XM_011511736.2:c.1520G>A	XP_011510038.1:p.Gly507Glu
XM_011511756.2:c.1025G>A	XP_011510058.1:p.Gly342Glu
XM_024453102.1:c.1370G>A	XP_024308870.1:p.Gly457Glu
XR_001738918.2:n.1852G>A
XR_001738919.2:n.1786G>A
XR_923004.3:n.2109G>A
XR_923007.3:n.1819G>A
XR_923011.3:n.1920G>A
NM_152783.5:c.1478G>A MANE Select	NP_689996.4:p.Gly493Glu
NM_001287249.2:c.1076G>A	NP_001274178.1:p.Gly359Glu
NM_001352824.2:c.917G>A	NP_001339753.1:p.Gly306Glu
NR_109778.2:n.1349G>A