Canonical Allele Identifier: CA351413101

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707197A>T (hg19) ; chr2:g.241767782A>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767782A>T , CM000664.2:g.241767782A>T	GRCh38
NC_000002.11:g.242707197A>T , CM000664.1:g.242707197A>T	GRCh37
NC_000002.10:g.242355870A>T	NCBI36
NG_012012.1:g.38168A>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1379A>T MANE Select	ENSP00000315351.4:p.His460Leu
ENST00000321264.8:c.1379A>T	ENSP00000315351.4:p.His460Leu
ENST00000400769.6:c.*129A>T	ENSP00000383580.2:n.*129A>T
ENST00000403782.5:c.977A>T	ENSP00000384723.1:p.His326Leu
ENST00000436747.5:c.*2615A>T	ENSP00000400212.1:n.*2615A>T
ENST00000445308.1:c.775A>T
ENST00000468064.5:n.1269A>T
ENST00000470343.5:n.860A>T
ENST00000473126.1:n.578A>T
ENST00000486953.5:n.1203A>T
ENST00000610344.1:c.*223A>T	ENSP00000481906.1:n.*223A>T
NM_001287249.1:c.977A>T	NP_001274178.1:p.His326Leu
NM_152783.4:c.1379A>T	NP_689996.4:p.His460Leu
NR_109778.1:n.1301A>T
XM_011511734.1:c.1499A>T	XP_011510036.1:p.His500Leu
XM_011511735.1:c.1457A>T	XP_011510037.1:p.His486Leu
XM_011511736.1:c.1421A>T	XP_011510038.1:p.His474Leu
XM_011511744.1:c.*111A>T	XP_011510046.1:n.*111A>T
XM_011511750.1:c.*46A>T	XP_011510052.1:n.*46A>T
XM_011511754.1:c.938A>T	XP_011510056.1:p.His313Leu
XM_011511755.1:c.929A>T	XP_011510057.1:p.His310Leu
XM_011511756.1:c.926A>T	XP_011510058.1:p.His309Leu
XR_923004.1:n.2011A>T
XR_923007.1:n.1721A>T
XR_923011.1:n.1822A>T
NM_001352824.1:c.818A>T	NP_001339753.1:p.His273Leu
XM_011511734.2:c.1499A>T	XP_011510036.1:p.His500Leu
XM_011511735.2:c.1457A>T	XP_011510037.1:p.His486Leu
XM_011511736.2:c.1421A>T	XP_011510038.1:p.His474Leu
XM_011511744.2:c.*111A>T	XP_011510046.1:n.*111A>T
XM_011511750.3:c.*46A>T	XP_011510052.1:n.*46A>T
XM_011511756.2:c.926A>T	XP_011510058.1:p.His309Leu
XM_024453102.1:c.1271A>T	XP_024308870.1:p.His424Leu
XR_001738918.2:n.1753A>T
XR_001738919.2:n.1687A>T
XR_923004.3:n.2010A>T
XR_923007.3:n.1720A>T
XR_923011.3:n.1821A>T
NM_152783.5:c.1379A>T MANE Select	NP_689996.4:p.His460Leu
NM_001287249.2:c.977A>T	NP_001274178.1:p.His326Leu
NM_001352824.2:c.818A>T	NP_001339753.1:p.His273Leu
NR_109778.2:n.1250A>T