Canonical Allele Identifier: CA2222229

Gene: D2HGDH

Linked Data

• dbSNP Id: rs768238728
• ExAC: 2:242707238 G / A
• gnomAD v2: 2-242707238-G-A
• gnomAD v3: 2-241767823-G-A
• gnomAD v4: 2-241767823-G-A
• MyVariant Identifiers: chr2:g.242707238G>A (hg19) ; chr2:g.241767823G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767823G>A , CM000664.2:g.241767823G>A	GRCh38
NC_000002.11:g.242707238G>A , CM000664.1:g.242707238G>A	GRCh37
NC_000002.10:g.242355911G>A	NCBI36
NG_012012.1:g.38209G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1420G>A MANE Select	ENSP00000315351.4:p.Ala474Thr
ENST00000321264.8:c.1420G>A	ENSP00000315351.4:p.Ala474Thr
ENST00000400769.6:c.*170G>A	ENSP00000383580.2:n.*170G>A
ENST00000403782.5:c.1018G>A	ENSP00000384723.1:p.Ala340Thr
ENST00000436747.5:c.*2656G>A	ENSP00000400212.1:n.*2656G>A
ENST00000445308.1:c.816G>A
ENST00000468064.5:n.1310G>A
ENST00000470343.5:n.901G>A
ENST00000473126.1:n.619G>A
ENST00000486953.5:n.1244G>A
ENST00000610344.1:c.*264G>A	ENSP00000481906.1:n.*264G>A
NM_001287249.1:c.1018G>A	NP_001274178.1:p.Ala340Thr
NM_152783.4:c.1420G>A	NP_689996.4:p.Ala474Thr
NR_109778.1:n.1342G>A
XM_011511734.1:c.1540G>A	XP_011510036.1:p.Ala514Thr
XM_011511735.1:c.1498G>A	XP_011510037.1:p.Ala500Thr
XM_011511736.1:c.1462G>A	XP_011510038.1:p.Ala488Thr
XM_011511750.1:c.*87G>A	XP_011510052.1:n.*87G>A
XM_011511754.1:c.979G>A	XP_011510056.1:p.Ala327Thr
XM_011511755.1:c.970G>A	XP_011510057.1:p.Ala324Thr
XM_011511756.1:c.967G>A	XP_011510058.1:p.Ala323Thr
XR_923004.1:n.2052G>A
XR_923007.1:n.1762G>A
XR_923011.1:n.1863G>A
NM_001352824.1:c.859G>A	NP_001339753.1:p.Ala287Thr
XM_011511734.2:c.1540G>A	XP_011510036.1:p.Ala514Thr
XM_011511735.2:c.1498G>A	XP_011510037.1:p.Ala500Thr
XM_011511736.2:c.1462G>A	XP_011510038.1:p.Ala488Thr
XM_011511750.3:c.*87G>A	XP_011510052.1:n.*87G>A
XM_011511756.2:c.967G>A	XP_011510058.1:p.Ala323Thr
XM_024453102.1:c.1312G>A	XP_024308870.1:p.Ala438Thr
XR_001738918.2:n.1794G>A
XR_001738919.2:n.1728G>A
XR_923004.3:n.2051G>A
XR_923007.3:n.1761G>A
XR_923011.3:n.1862G>A
NM_152783.5:c.1420G>A MANE Select	NP_689996.4:p.Ala474Thr
NM_001287249.2:c.1018G>A	NP_001274178.1:p.Ala340Thr
NM_001352824.2:c.859G>A	NP_001339753.1:p.Ala287Thr
NR_109778.2:n.1291G>A