Canonical Allele Identifier: CA351412929

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707139C>G (hg19) ; chr2:g.241767724C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767724C>G , CM000664.2:g.241767724C>G	GRCh38
NC_000002.11:g.242707139C>G , CM000664.1:g.242707139C>G	GRCh37
NC_000002.10:g.242355812C>G	NCBI36
NG_012012.1:g.38110C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1321C>G MANE Select	ENSP00000315351.4:p.His441Asp
ENST00000321264.8:c.1321C>G	ENSP00000315351.4:p.His441Asp
ENST00000400769.6:c.*71C>G	ENSP00000383580.2:n.*71C>G
ENST00000403782.5:c.919C>G	ENSP00000384723.1:p.His307Asp
ENST00000436747.5:c.*2557C>G	ENSP00000400212.1:n.*2557C>G
ENST00000445308.1:c.717C>G
ENST00000468064.5:n.1211C>G
ENST00000470343.5:n.802C>G
ENST00000473126.1:n.520C>G
ENST00000486953.5:n.1145C>G
ENST00000610344.1:c.*165C>G	ENSP00000481906.1:n.*165C>G
NM_001287249.1:c.919C>G	NP_001274178.1:p.His307Asp
NM_152783.4:c.1321C>G	NP_689996.4:p.His441Asp
NR_109778.1:n.1243C>G
XM_011511734.1:c.1441C>G	XP_011510036.1:p.His481Asp
XM_011511735.1:c.1399C>G	XP_011510037.1:p.His467Asp
XM_011511736.1:c.1363C>G	XP_011510038.1:p.His455Asp
XM_011511744.1:c.*53C>G	XP_011510046.1:n.*53C>G
XM_011511750.1:c.1233C>G	XP_011510052.1:p.Cys411Trp
XM_011511754.1:c.880C>G	XP_011510056.1:p.His294Asp
XM_011511755.1:c.871C>G	XP_011510057.1:p.His291Asp
XM_011511756.1:c.868C>G	XP_011510058.1:p.His290Asp
XR_923004.1:n.1953C>G
XR_923007.1:n.1663C>G
XR_923011.1:n.1764C>G
NM_001352824.1:c.760C>G	NP_001339753.1:p.His254Asp
XM_011511734.2:c.1441C>G	XP_011510036.1:p.His481Asp
XM_011511735.2:c.1399C>G	XP_011510037.1:p.His467Asp
XM_011511736.2:c.1363C>G	XP_011510038.1:p.His455Asp
XM_011511744.2:c.*53C>G	XP_011510046.1:n.*53C>G
XM_011511750.3:c.1233C>G	XP_011510052.1:p.Cys411Trp
XM_011511756.2:c.868C>G	XP_011510058.1:p.His290Asp
XM_024453102.1:c.1213C>G	XP_024308870.1:p.His405Asp
XR_001738918.2:n.1695C>G
XR_001738919.2:n.1629C>G
XR_923004.3:n.1952C>G
XR_923007.3:n.1662C>G
XR_923011.3:n.1763C>G
NM_152783.5:c.1321C>G MANE Select	NP_689996.4:p.His441Asp
NM_001287249.2:c.919C>G	NP_001274178.1:p.His307Asp
NM_001352824.2:c.760C>G	NP_001339753.1:p.His254Asp
NR_109778.2:n.1192C>G