Canonical Allele Identifier: CA351413060

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707176T>A (hg19) ; chr2:g.241767761T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767761T>A , CM000664.2:g.241767761T>A	GRCh38
NC_000002.11:g.242707176T>A , CM000664.1:g.242707176T>A	GRCh37
NC_000002.10:g.242355849T>A	NCBI36
NG_012012.1:g.38147T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1358T>A MANE Select	ENSP00000315351.4:p.Leu453His
ENST00000321264.8:c.1358T>A	ENSP00000315351.4:p.Leu453His
ENST00000400769.6:c.*108T>A	ENSP00000383580.2:n.*108T>A
ENST00000403782.5:c.956T>A	ENSP00000384723.1:p.Leu319His
ENST00000436747.5:c.*2594T>A	ENSP00000400212.1:n.*2594T>A
ENST00000445308.1:c.754T>A
ENST00000468064.5:n.1248T>A
ENST00000470343.5:n.839T>A
ENST00000473126.1:n.557T>A
ENST00000486953.5:n.1182T>A
ENST00000610344.1:c.*202T>A	ENSP00000481906.1:n.*202T>A
NM_001287249.1:c.956T>A	NP_001274178.1:p.Leu319His
NM_152783.4:c.1358T>A	NP_689996.4:p.Leu453His
NR_109778.1:n.1280T>A
XM_011511734.1:c.1478T>A	XP_011510036.1:p.Leu493His
XM_011511735.1:c.1436T>A	XP_011510037.1:p.Leu479His
XM_011511736.1:c.1400T>A	XP_011510038.1:p.Leu467His
XM_011511744.1:c.*90T>A	XP_011510046.1:n.*90T>A
XM_011511750.1:c.*25T>A	XP_011510052.1:n.*25T>A
XM_011511754.1:c.917T>A	XP_011510056.1:p.Leu306His
XM_011511755.1:c.908T>A	XP_011510057.1:p.Leu303His
XM_011511756.1:c.905T>A	XP_011510058.1:p.Leu302His
XR_923004.1:n.1990T>A
XR_923007.1:n.1700T>A
XR_923011.1:n.1801T>A
NM_001352824.1:c.797T>A	NP_001339753.1:p.Leu266His
XM_011511734.2:c.1478T>A	XP_011510036.1:p.Leu493His
XM_011511735.2:c.1436T>A	XP_011510037.1:p.Leu479His
XM_011511736.2:c.1400T>A	XP_011510038.1:p.Leu467His
XM_011511744.2:c.*90T>A	XP_011510046.1:n.*90T>A
XM_011511750.3:c.*25T>A	XP_011510052.1:n.*25T>A
XM_011511756.2:c.905T>A	XP_011510058.1:p.Leu302His
XM_024453102.1:c.1250T>A	XP_024308870.1:p.Leu417His
XR_001738918.2:n.1732T>A
XR_001738919.2:n.1666T>A
XR_923004.3:n.1989T>A
XR_923007.3:n.1699T>A
XR_923011.3:n.1800T>A
NM_152783.5:c.1358T>A MANE Select	NP_689996.4:p.Leu453His
NM_001287249.2:c.956T>A	NP_001274178.1:p.Leu319His
NM_001352824.2:c.797T>A	NP_001339753.1:p.Leu266His
NR_109778.2:n.1229T>A