Canonical Allele Identifier: CA351406080

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242681857C>T (hg19) ; chr2:g.241742442C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241742442C>T , CM000664.2:g.241742442C>T	GRCh38
NC_000002.11:g.242681857C>T , CM000664.1:g.242681857C>T	GRCh37
NC_000002.10:g.242330530C>T	NCBI36
NG_012012.1:g.12828C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.358C>T MANE Select	ENSP00000315351.4:p.His120Tyr
ENST00000321264.8:c.358C>T	ENSP00000315351.4:p.His120Tyr
ENST00000400769.6:c.358C>T	ENSP00000383580.2:p.His120Tyr
ENST00000403782.5:c.-45C>T	ENSP00000384723.1:n.-45C>T
ENST00000436747.5:c.358C>T	ENSP00000400212.1:p.His120Tyr
ENST00000437164.1:c.10C>T	ENSP00000412511.1:p.His4Tyr
NM_001287249.1:c.-45C>T	NP_001274178.1:n.-45C>T
NM_152783.4:c.358C>T	NP_689996.4:p.His120Tyr
NR_109778.1:n.567C>T
XM_011511734.1:c.358C>T	XP_011510036.1:p.His120Tyr
XM_011511735.1:c.358C>T	XP_011510037.1:p.His120Tyr
XM_011511736.1:c.358C>T	XP_011510038.1:p.His120Tyr
XM_011511737.1:c.358C>T	XP_011510039.1:p.His120Tyr
XM_011511738.1:c.358C>T	XP_011510040.1:p.His120Tyr
XM_011511739.1:c.358C>T	XP_011510041.1:p.His120Tyr
XM_011511740.1:c.358C>T	XP_011510042.1:p.His120Tyr
XM_011511741.1:c.358C>T	XP_011510043.1:p.His120Tyr
XM_011511742.1:c.358C>T	XP_011510044.1:p.His120Tyr
XM_011511743.1:c.358C>T	XP_011510045.1:p.His120Tyr
XM_011511744.1:c.358C>T	XP_011510046.1:p.His120Tyr
XM_011511745.1:c.358C>T	XP_011510047.1:p.His120Tyr
XM_011511746.1:c.358C>T	XP_011510048.1:p.His120Tyr
XM_011511747.1:c.358C>T	XP_011510049.1:p.His120Tyr
XM_011511748.1:c.358C>T	XP_011510050.1:p.His120Tyr
XM_011511749.1:c.358C>T	XP_011510051.1:p.His120Tyr
XM_011511750.1:c.358C>T	XP_011510052.1:p.His120Tyr
XM_011511751.1:c.358C>T	XP_011510053.1:p.His120Tyr
XM_011511752.1:c.358C>T	XP_011510054.1:p.His120Tyr
XM_011511753.1:c.358C>T	XP_011510055.1:p.His120Tyr
XM_011511756.1:c.358C>T	XP_011510058.1:p.His120Tyr
XM_011511757.1:c.358C>T	XP_011510059.1:p.His120Tyr
XM_011511758.1:c.358C>T	XP_011510060.1:p.His120Tyr
XM_011511759.1:c.358C>T	XP_011510061.1:p.His120Tyr
XM_011511760.1:c.358C>T	XP_011510062.1:p.His120Tyr
XR_241434.3:n.518C>T
XR_923003.1:n.518C>T
XR_923004.1:n.518C>T
XR_923005.1:n.518C>T
XR_923006.1:n.518C>T
XR_923007.1:n.518C>T
XR_923008.1:n.518C>T
XR_923009.1:n.518C>T
XR_923010.1:n.518C>T
XR_923011.1:n.518C>T
XR_923012.1:n.518C>T
XR_923013.1:n.518C>T
XR_923014.1:n.518C>T
XR_923015.1:n.518C>T
XR_923016.1:n.518C>T
NM_001352824.1:c.-187C>T	NP_001339753.1:n.-187C>T
XM_011511734.2:c.358C>T	XP_011510036.1:p.His120Tyr
XM_011511735.2:c.358C>T	XP_011510037.1:p.His120Tyr
XM_011511736.2:c.358C>T	XP_011510038.1:p.His120Tyr
XM_011511737.3:c.358C>T	XP_011510039.1:p.His120Tyr
XM_011511738.3:c.358C>T	XP_011510040.1:p.His120Tyr
XM_011511739.2:c.358C>T	XP_011510041.1:p.His120Tyr
XM_011511740.3:c.358C>T	XP_011510042.1:p.His120Tyr
XM_011511741.3:c.358C>T	XP_011510043.1:p.His120Tyr
XM_011511743.2:c.358C>T	XP_011510045.1:p.His120Tyr
XM_011511744.2:c.358C>T	XP_011510046.1:p.His120Tyr
XM_011511745.3:c.358C>T	XP_011510047.1:p.His120Tyr
XM_011511746.3:c.358C>T	XP_011510048.1:p.His120Tyr
XM_011511747.3:c.358C>T	XP_011510049.1:p.His120Tyr
XM_011511749.3:c.358C>T	XP_011510051.1:p.His120Tyr
XM_011511750.3:c.358C>T	XP_011510052.1:p.His120Tyr
XM_011511751.2:c.358C>T	XP_011510053.1:p.His120Tyr
XM_011511752.2:c.358C>T	XP_011510054.1:p.His120Tyr
XM_011511753.3:c.358C>T	XP_011510055.1:p.His120Tyr
XM_011511756.2:c.358C>T	XP_011510058.1:p.His120Tyr
XM_011511757.3:c.358C>T	XP_011510059.1:p.His120Tyr
XM_011511758.3:c.358C>T	XP_011510060.1:p.His120Tyr
XM_011511759.3:c.358C>T	XP_011510061.1:p.His120Tyr
XM_011511760.3:c.358C>T	XP_011510062.1:p.His120Tyr
XM_017004827.2:c.358C>T	XP_016860316.1:p.His120Tyr
XM_017004828.2:c.358C>T	XP_016860317.1:p.His120Tyr
XM_017004829.2:c.358C>T	XP_016860318.1:p.His120Tyr
XM_017004830.2:c.358C>T	XP_016860319.1:p.His120Tyr
XM_017004832.2:c.358C>T	XP_016860321.1:p.His120Tyr
XM_024453102.1:c.130C>T	XP_024308870.1:p.His44Tyr
XM_024453103.1:c.358C>T	XP_024308871.1:p.His120Tyr
XR_001738918.2:n.517C>T
XR_001738919.2:n.517C>T
XR_002959334.1:n.517C>T
XR_002959335.1:n.517C>T
XR_241434.4:n.517C>T
XR_923004.3:n.517C>T
XR_923005.2:n.517C>T
XR_923007.3:n.517C>T
XR_923009.2:n.517C>T
XR_923010.2:n.517C>T
XR_923011.3:n.517C>T
XR_923012.2:n.517C>T
XR_923013.2:n.517C>T
XR_923014.3:n.517C>T
XR_923015.2:n.517C>T
XR_923016.3:n.517C>T
NM_152783.5:c.358C>T MANE Select	NP_689996.4:p.His120Tyr
NM_001287249.2:c.-45C>T	NP_001274178.1:n.-45C>T
NM_001352824.2:c.-187C>T	NP_001339753.1:n.-187C>T
NR_109778.2:n.516C>T