Canonical Allele Identifier: CA2664134631

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241767696-C-A

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767696C>A , CM000664.2:g.241767696C>A	GRCh38
NC_000002.11:g.242707111C>A , CM000664.1:g.242707111C>A	GRCh37
NC_000002.10:g.242355784C>A	NCBI36
NG_012012.1:g.38082C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1307-14C>A MANE Select	ENSP00000315351.4:n.1307-14C>A
ENST00000321264.8:c.1307-14C>A	ENSP00000315351.4:n.1307-14C>A
ENST00000400769.6:c.*57-14C>A	ENSP00000383580.2:n.*57-14C>A
ENST00000403782.5:c.905-14C>A	ENSP00000384723.1:n.905-14C>A
ENST00000436747.5:c.*2543-14C>A	ENSP00000400212.1:n.*2543-14C>A
ENST00000445308.1:c.703-14C>A
ENST00000468064.5:n.1197-14C>A
ENST00000470343.5:n.788-14C>A
ENST00000473126.1:n.506-14C>A
ENST00000486953.5:n.1134-17C>A
ENST00000610344.1:c.*151-14C>A	ENSP00000481906.1:n.*151-14C>A
NM_001287249.1:c.905-14C>A	NP_001274178.1:n.905-14C>A
NM_152783.4:c.1307-14C>A	NP_689996.4:n.1307-14C>A
NR_109778.1:n.1229-14C>A
XM_011511734.1:c.1427-14C>A	XP_011510036.1:n.1427-14C>A
XM_011511735.1:c.1385-14C>A	XP_011510037.1:n.1385-14C>A
XM_011511736.1:c.1349-14C>A	XP_011510038.1:n.1349-14C>A
XM_011511744.1:c.*39-14C>A	XP_011510046.1:n.*39-14C>A
XM_011511750.1:c.1219-14C>A	XP_011510052.1:n.1219-14C>A
XM_011511754.1:c.866-14C>A	XP_011510056.1:n.866-14C>A
XM_011511755.1:c.857-14C>A	XP_011510057.1:n.857-14C>A
XM_011511756.1:c.854-14C>A	XP_011510058.1:n.854-14C>A
XR_923004.1:n.1939-14C>A
XR_923007.1:n.1649-14C>A
XR_923011.1:n.1750-14C>A
NM_001352824.1:c.746-14C>A	NP_001339753.1:n.746-14C>A
XM_011511734.2:c.1427-14C>A	XP_011510036.1:n.1427-14C>A
XM_011511735.2:c.1385-14C>A	XP_011510037.1:n.1385-14C>A
XM_011511736.2:c.1349-14C>A	XP_011510038.1:n.1349-14C>A
XM_011511744.2:c.*39-14C>A	XP_011510046.1:n.*39-14C>A
XM_011511750.3:c.1219-14C>A	XP_011510052.1:n.1219-14C>A
XM_011511756.2:c.854-14C>A	XP_011510058.1:n.854-14C>A
XM_024453102.1:c.1199-14C>A	XP_024308870.1:n.1199-14C>A
XR_001738918.2:n.1681-14C>A
XR_001738919.2:n.1615-14C>A
XR_923004.3:n.1938-14C>A
XR_923007.3:n.1648-14C>A
XR_923011.3:n.1749-14C>A
NM_152783.5:c.1307-14C>A MANE Select	NP_689996.4:n.1307-14C>A
NM_001287249.2:c.905-14C>A	NP_001274178.1:n.905-14C>A
NM_001352824.2:c.746-14C>A	NP_001339753.1:n.746-14C>A
NR_109778.2:n.1178-14C>A