Canonical Allele Identifier: CA2222183

Gene: D2HGDH

Linked Data

• dbSNP Id: rs750808833
• ExAC: 2:242707088 C / T
• gnomAD v2: 2-242707088-C-T
• gnomAD v4: 2-241767673-C-T
• MyVariant Identifiers: chr2:g.242707088C>T (hg19) ; chr2:g.241767673C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767673C>T , CM000664.2:g.241767673C>T	GRCh38
NC_000002.11:g.242707088C>T , CM000664.1:g.242707088C>T	GRCh37
NC_000002.10:g.242355761C>T	NCBI36
NG_012012.1:g.38059C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1307-37C>T MANE Select	ENSP00000315351.4:n.1307-37C>T
ENST00000321264.8:c.1307-37C>T	ENSP00000315351.4:n.1307-37C>T
ENST00000400769.6:c.*57-37C>T	ENSP00000383580.2:n.*57-37C>T
ENST00000403782.5:c.905-37C>T	ENSP00000384723.1:n.905-37C>T
ENST00000436747.5:c.*2543-37C>T	ENSP00000400212.1:n.*2543-37C>T
ENST00000445308.1:c.703-37C>T
ENST00000468064.5:n.1197-37C>T
ENST00000470343.5:n.788-37C>T
ENST00000473126.1:n.506-37C>T
ENST00000486953.5:n.1134-40C>T
ENST00000610344.1:c.*151-37C>T	ENSP00000481906.1:n.*151-37C>T
NM_001287249.1:c.905-37C>T	NP_001274178.1:n.905-37C>T
NM_152783.4:c.1307-37C>T	NP_689996.4:n.1307-37C>T
NR_109778.1:n.1229-37C>T
XM_011511734.1:c.1427-37C>T	XP_011510036.1:n.1427-37C>T
XM_011511735.1:c.1385-37C>T	XP_011510037.1:n.1385-37C>T
XM_011511736.1:c.1349-37C>T	XP_011510038.1:n.1349-37C>T
XM_011511744.1:c.*39-37C>T	XP_011510046.1:n.*39-37C>T
XM_011511750.1:c.1219-37C>T	XP_011510052.1:n.1219-37C>T
XM_011511754.1:c.866-37C>T	XP_011510056.1:n.866-37C>T
XM_011511755.1:c.857-37C>T	XP_011510057.1:n.857-37C>T
XM_011511756.1:c.854-37C>T	XP_011510058.1:n.854-37C>T
XR_923004.1:n.1939-37C>T
XR_923007.1:n.1649-37C>T
XR_923011.1:n.1750-37C>T
NM_001352824.1:c.746-37C>T	NP_001339753.1:n.746-37C>T
XM_011511734.2:c.1427-37C>T	XP_011510036.1:n.1427-37C>T
XM_011511735.2:c.1385-37C>T	XP_011510037.1:n.1385-37C>T
XM_011511736.2:c.1349-37C>T	XP_011510038.1:n.1349-37C>T
XM_011511744.2:c.*39-37C>T	XP_011510046.1:n.*39-37C>T
XM_011511750.3:c.1219-37C>T	XP_011510052.1:n.1219-37C>T
XM_011511756.2:c.854-37C>T	XP_011510058.1:n.854-37C>T
XM_024453102.1:c.1199-37C>T	XP_024308870.1:n.1199-37C>T
XR_001738918.2:n.1681-37C>T
XR_001738919.2:n.1615-37C>T
XR_923004.3:n.1938-37C>T
XR_923007.3:n.1648-37C>T
XR_923011.3:n.1749-37C>T
NM_152783.5:c.1307-37C>T MANE Select	NP_689996.4:n.1307-37C>T
NM_001287249.2:c.905-37C>T	NP_001274178.1:n.905-37C>T
NM_001352824.2:c.746-37C>T	NP_001339753.1:n.746-37C>T
NR_109778.2:n.1178-37C>T