Canonical Allele Identifier: CA351413102

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707198C>A (hg19) ; chr2:g.241767783C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767783C>A , CM000664.2:g.241767783C>A	GRCh38
NC_000002.11:g.242707198C>A , CM000664.1:g.242707198C>A	GRCh37
NC_000002.10:g.242355871C>A	NCBI36
NG_012012.1:g.38169C>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1380C>A MANE Select	ENSP00000315351.4:p.His460Gln
ENST00000321264.8:c.1380C>A	ENSP00000315351.4:p.His460Gln
ENST00000400769.6:c.*130C>A	ENSP00000383580.2:n.*130C>A
ENST00000403782.5:c.978C>A	ENSP00000384723.1:p.His326Gln
ENST00000436747.5:c.*2616C>A	ENSP00000400212.1:n.*2616C>A
ENST00000445308.1:c.776C>A
ENST00000468064.5:n.1270C>A
ENST00000470343.5:n.861C>A
ENST00000473126.1:n.579C>A
ENST00000486953.5:n.1204C>A
ENST00000610344.1:c.*224C>A	ENSP00000481906.1:n.*224C>A
NM_001287249.1:c.978C>A	NP_001274178.1:p.His326Gln
NM_152783.4:c.1380C>A	NP_689996.4:p.His460Gln
NR_109778.1:n.1302C>A
XM_011511734.1:c.1500C>A	XP_011510036.1:p.His500Gln
XM_011511735.1:c.1458C>A	XP_011510037.1:p.His486Gln
XM_011511736.1:c.1422C>A	XP_011510038.1:p.His474Gln
XM_011511744.1:c.*112C>A	XP_011510046.1:n.*112C>A
XM_011511750.1:c.*47C>A	XP_011510052.1:n.*47C>A
XM_011511754.1:c.939C>A	XP_011510056.1:p.His313Gln
XM_011511755.1:c.930C>A	XP_011510057.1:p.His310Gln
XM_011511756.1:c.927C>A	XP_011510058.1:p.His309Gln
XR_923004.1:n.2012C>A
XR_923007.1:n.1722C>A
XR_923011.1:n.1823C>A
NM_001352824.1:c.819C>A	NP_001339753.1:p.His273Gln
XM_011511734.2:c.1500C>A	XP_011510036.1:p.His500Gln
XM_011511735.2:c.1458C>A	XP_011510037.1:p.His486Gln
XM_011511736.2:c.1422C>A	XP_011510038.1:p.His474Gln
XM_011511744.2:c.*112C>A	XP_011510046.1:n.*112C>A
XM_011511750.3:c.*47C>A	XP_011510052.1:n.*47C>A
XM_011511756.2:c.927C>A	XP_011510058.1:p.His309Gln
XM_024453102.1:c.1272C>A	XP_024308870.1:p.His424Gln
XR_001738918.2:n.1754C>A
XR_001738919.2:n.1688C>A
XR_923004.3:n.2011C>A
XR_923007.3:n.1721C>A
XR_923011.3:n.1822C>A
NM_152783.5:c.1380C>A MANE Select	NP_689996.4:p.His460Gln
NM_001287249.2:c.978C>A	NP_001274178.1:p.His326Gln
NM_001352824.2:c.819C>A	NP_001339753.1:p.His273Gln
NR_109778.2:n.1251C>A