Canonical Allele Identifier: CA351412857

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241767710-G-A
• MyVariant Identifiers: chr2:g.242707125G>A (hg19) ; chr2:g.241767710G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767710G>A , CM000664.2:g.241767710G>A	GRCh38
NC_000002.11:g.242707125G>A , CM000664.1:g.242707125G>A	GRCh37
NC_000002.10:g.242355798G>A	NCBI36
NG_012012.1:g.38096G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1307G>A MANE Select	ENSP00000315351.4:p.Gly436Glu
ENST00000321264.8:c.1307G>A	ENSP00000315351.4:p.Gly436Glu
ENST00000400769.6:c.*57G>A	ENSP00000383580.2:n.*57G>A
ENST00000403782.5:c.905G>A	ENSP00000384723.1:p.Gly302Glu
ENST00000436747.5:c.*2543G>A	ENSP00000400212.1:n.*2543G>A
ENST00000445308.1:c.703G>A
ENST00000468064.5:n.1197G>A
ENST00000470343.5:n.788G>A
ENST00000473126.1:n.506G>A
ENST00000486953.5:n.1134-3G>A
ENST00000610344.1:c.*151G>A	ENSP00000481906.1:n.*151G>A
NM_001287249.1:c.905G>A	NP_001274178.1:p.Gly302Glu
NM_152783.4:c.1307G>A	NP_689996.4:p.Gly436Glu
NR_109778.1:n.1229G>A
XM_011511734.1:c.1427G>A	XP_011510036.1:p.Gly476Glu
XM_011511735.1:c.1385G>A	XP_011510037.1:p.Gly462Glu
XM_011511736.1:c.1349G>A	XP_011510038.1:p.Gly450Glu
XM_011511744.1:c.*39G>A	XP_011510046.1:n.*39G>A
XM_011511750.1:c.1219G>A	XP_011510052.1:p.Glu407Lys
XM_011511754.1:c.866G>A	XP_011510056.1:p.Gly289Glu
XM_011511755.1:c.857G>A	XP_011510057.1:p.Gly286Glu
XM_011511756.1:c.854G>A	XP_011510058.1:p.Gly285Glu
XR_923004.1:n.1939G>A
XR_923007.1:n.1649G>A
XR_923011.1:n.1750G>A
NM_001352824.1:c.746G>A	NP_001339753.1:p.Gly249Glu
XM_011511734.2:c.1427G>A	XP_011510036.1:p.Gly476Glu
XM_011511735.2:c.1385G>A	XP_011510037.1:p.Gly462Glu
XM_011511736.2:c.1349G>A	XP_011510038.1:p.Gly450Glu
XM_011511744.2:c.*39G>A	XP_011510046.1:n.*39G>A
XM_011511750.3:c.1219G>A	XP_011510052.1:p.Glu407Lys
XM_011511756.2:c.854G>A	XP_011510058.1:p.Gly285Glu
XM_024453102.1:c.1199G>A	XP_024308870.1:p.Gly400Glu
XR_001738918.2:n.1681G>A
XR_001738919.2:n.1615G>A
XR_923004.3:n.1938G>A
XR_923007.3:n.1648G>A
XR_923011.3:n.1749G>A
NM_152783.5:c.1307G>A MANE Select	NP_689996.4:p.Gly436Glu
NM_001287249.2:c.905G>A	NP_001274178.1:p.Gly302Glu
NM_001352824.2:c.746G>A	NP_001339753.1:p.Gly249Glu
NR_109778.2:n.1178G>A