Canonical Allele Identifier: CA351413034

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1169721762
• MyVariant Identifiers: chr2:g.242707163T>G (hg19) ; chr2:g.241767748T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767748T>G , CM000664.2:g.241767748T>G	GRCh38
NC_000002.11:g.242707163T>G , CM000664.1:g.242707163T>G	GRCh37
NC_000002.10:g.242355836T>G	NCBI36
NG_012012.1:g.38134T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1345T>G MANE Select	ENSP00000315351.4:p.Phe449Val
ENST00000321264.8:c.1345T>G	ENSP00000315351.4:p.Phe449Val
ENST00000400769.6:c.*95T>G	ENSP00000383580.2:n.*95T>G
ENST00000403782.5:c.943T>G	ENSP00000384723.1:p.Phe315Val
ENST00000436747.5:c.*2581T>G	ENSP00000400212.1:n.*2581T>G
ENST00000445308.1:c.741T>G
ENST00000468064.5:n.1235T>G
ENST00000470343.5:n.826T>G
ENST00000473126.1:n.544T>G
ENST00000486953.5:n.1169T>G
ENST00000610344.1:c.*189T>G	ENSP00000481906.1:n.*189T>G
NM_001287249.1:c.943T>G	NP_001274178.1:p.Phe315Val
NM_152783.4:c.1345T>G	NP_689996.4:p.Phe449Val
NR_109778.1:n.1267T>G
XM_011511734.1:c.1465T>G	XP_011510036.1:p.Phe489Val
XM_011511735.1:c.1423T>G	XP_011510037.1:p.Phe475Val
XM_011511736.1:c.1387T>G	XP_011510038.1:p.Phe463Val
XM_011511744.1:c.*77T>G	XP_011510046.1:n.*77T>G
XM_011511750.1:c.*12T>G	XP_011510052.1:n.*12T>G
XM_011511754.1:c.904T>G	XP_011510056.1:p.Phe302Val
XM_011511755.1:c.895T>G	XP_011510057.1:p.Phe299Val
XM_011511756.1:c.892T>G	XP_011510058.1:p.Phe298Val
XR_923004.1:n.1977T>G
XR_923007.1:n.1687T>G
XR_923011.1:n.1788T>G
NM_001352824.1:c.784T>G	NP_001339753.1:p.Phe262Val
XM_011511734.2:c.1465T>G	XP_011510036.1:p.Phe489Val
XM_011511735.2:c.1423T>G	XP_011510037.1:p.Phe475Val
XM_011511736.2:c.1387T>G	XP_011510038.1:p.Phe463Val
XM_011511744.2:c.*77T>G	XP_011510046.1:n.*77T>G
XM_011511750.3:c.*12T>G	XP_011510052.1:n.*12T>G
XM_011511756.2:c.892T>G	XP_011510058.1:p.Phe298Val
XM_024453102.1:c.1237T>G	XP_024308870.1:p.Phe413Val
XR_001738918.2:n.1719T>G
XR_001738919.2:n.1653T>G
XR_923004.3:n.1976T>G
XR_923007.3:n.1686T>G
XR_923011.3:n.1787T>G
NM_152783.5:c.1345T>G MANE Select	NP_689996.4:p.Phe449Val
NM_001287249.2:c.943T>G	NP_001274178.1:p.Phe315Val
NM_001352824.2:c.784T>G	NP_001339753.1:p.Phe262Val
NR_109778.2:n.1216T>G