Canonical Allele Identifier: CA351412940

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707141C>A (hg19) ; chr2:g.241767726C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767726C>A , CM000664.2:g.241767726C>A	GRCh38
NC_000002.11:g.242707141C>A , CM000664.1:g.242707141C>A	GRCh37
NC_000002.10:g.242355814C>A	NCBI36
NG_012012.1:g.38112C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1323C>A MANE Select	ENSP00000315351.4:p.His441Gln
ENST00000321264.8:c.1323C>A	ENSP00000315351.4:p.His441Gln
ENST00000400769.6:c.*73C>A	ENSP00000383580.2:n.*73C>A
ENST00000403782.5:c.921C>A	ENSP00000384723.1:p.His307Gln
ENST00000436747.5:c.*2559C>A	ENSP00000400212.1:n.*2559C>A
ENST00000445308.1:c.719C>A
ENST00000468064.5:n.1213C>A
ENST00000470343.5:n.804C>A
ENST00000473126.1:n.522C>A
ENST00000486953.5:n.1147C>A
ENST00000610344.1:c.*167C>A	ENSP00000481906.1:n.*167C>A
NM_001287249.1:c.921C>A	NP_001274178.1:p.His307Gln
NM_152783.4:c.1323C>A	NP_689996.4:p.His441Gln
NR_109778.1:n.1245C>A
XM_011511734.1:c.1443C>A	XP_011510036.1:p.His481Gln
XM_011511735.1:c.1401C>A	XP_011510037.1:p.His467Gln
XM_011511736.1:c.1365C>A	XP_011510038.1:p.His455Gln
XM_011511744.1:c.*55C>A	XP_011510046.1:n.*55C>A
XM_011511750.1:c.1235C>A	XP_011510052.1:p.Thr412Asn
XM_011511754.1:c.882C>A	XP_011510056.1:p.His294Gln
XM_011511755.1:c.873C>A	XP_011510057.1:p.His291Gln
XM_011511756.1:c.870C>A	XP_011510058.1:p.His290Gln
XR_923004.1:n.1955C>A
XR_923007.1:n.1665C>A
XR_923011.1:n.1766C>A
NM_001352824.1:c.762C>A	NP_001339753.1:p.His254Gln
XM_011511734.2:c.1443C>A	XP_011510036.1:p.His481Gln
XM_011511735.2:c.1401C>A	XP_011510037.1:p.His467Gln
XM_011511736.2:c.1365C>A	XP_011510038.1:p.His455Gln
XM_011511744.2:c.*55C>A	XP_011510046.1:n.*55C>A
XM_011511750.3:c.1235C>A	XP_011510052.1:p.Thr412Asn
XM_011511756.2:c.870C>A	XP_011510058.1:p.His290Gln
XM_024453102.1:c.1215C>A	XP_024308870.1:p.His405Gln
XR_001738918.2:n.1697C>A
XR_001738919.2:n.1631C>A
XR_923004.3:n.1954C>A
XR_923007.3:n.1664C>A
XR_923011.3:n.1765C>A
NM_152783.5:c.1323C>A MANE Select	NP_689996.4:p.His441Gln
NM_001287249.2:c.921C>A	NP_001274178.1:p.His307Gln
NM_001352824.2:c.762C>A	NP_001339753.1:p.His254Gln
NR_109778.2:n.1194C>A