Canonical Allele Identifier: CA351413099

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707196C>T (hg19) ; chr2:g.241767781C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767781C>T , CM000664.2:g.241767781C>T	GRCh38
NC_000002.11:g.242707196C>T , CM000664.1:g.242707196C>T	GRCh37
NC_000002.10:g.242355869C>T	NCBI36
NG_012012.1:g.38167C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1378C>T MANE Select	ENSP00000315351.4:p.His460Tyr
ENST00000321264.8:c.1378C>T	ENSP00000315351.4:p.His460Tyr
ENST00000400769.6:c.*128C>T	ENSP00000383580.2:n.*128C>T
ENST00000403782.5:c.976C>T	ENSP00000384723.1:p.His326Tyr
ENST00000436747.5:c.*2614C>T	ENSP00000400212.1:n.*2614C>T
ENST00000445308.1:c.774C>T
ENST00000468064.5:n.1268C>T
ENST00000470343.5:n.859C>T
ENST00000473126.1:n.577C>T
ENST00000486953.5:n.1202C>T
ENST00000610344.1:c.*222C>T	ENSP00000481906.1:n.*222C>T
NM_001287249.1:c.976C>T	NP_001274178.1:p.His326Tyr
NM_152783.4:c.1378C>T	NP_689996.4:p.His460Tyr
NR_109778.1:n.1300C>T
XM_011511734.1:c.1498C>T	XP_011510036.1:p.His500Tyr
XM_011511735.1:c.1456C>T	XP_011510037.1:p.His486Tyr
XM_011511736.1:c.1420C>T	XP_011510038.1:p.His474Tyr
XM_011511744.1:c.*110C>T	XP_011510046.1:n.*110C>T
XM_011511750.1:c.*45C>T	XP_011510052.1:n.*45C>T
XM_011511754.1:c.937C>T	XP_011510056.1:p.His313Tyr
XM_011511755.1:c.928C>T	XP_011510057.1:p.His310Tyr
XM_011511756.1:c.925C>T	XP_011510058.1:p.His309Tyr
XR_923004.1:n.2010C>T
XR_923007.1:n.1720C>T
XR_923011.1:n.1821C>T
NM_001352824.1:c.817C>T	NP_001339753.1:p.His273Tyr
XM_011511734.2:c.1498C>T	XP_011510036.1:p.His500Tyr
XM_011511735.2:c.1456C>T	XP_011510037.1:p.His486Tyr
XM_011511736.2:c.1420C>T	XP_011510038.1:p.His474Tyr
XM_011511744.2:c.*110C>T	XP_011510046.1:n.*110C>T
XM_011511750.3:c.*45C>T	XP_011510052.1:n.*45C>T
XM_011511756.2:c.925C>T	XP_011510058.1:p.His309Tyr
XM_024453102.1:c.1270C>T	XP_024308870.1:p.His424Tyr
XR_001738918.2:n.1752C>T
XR_001738919.2:n.1686C>T
XR_923004.3:n.2009C>T
XR_923007.3:n.1719C>T
XR_923011.3:n.1820C>T
NM_152783.5:c.1378C>T MANE Select	NP_689996.4:p.His460Tyr
NM_001287249.2:c.976C>T	NP_001274178.1:p.His326Tyr
NM_001352824.2:c.817C>T	NP_001339753.1:p.His273Tyr
NR_109778.2:n.1249C>T