Canonical Allele Identifier: CA115239

Gene: D2HGDH

Linked Data

• ClinVar Variation Id: 1858
• ClinVar RCV Id: RCV000001932
• dbSNP Id: rs267606759
• ExAC: 2:242690786 G / T
• gnomAD v2: 2-242690786-G-T
• gnomAD v3: 2-241751371-G-T
• gnomAD v4: 2-241751371-G-T
• MyVariant Identifiers: chr2:g.242690786G>T (hg19) ; chr2:g.241751371G>T (hg38)
• PubMed: PMID:16081310

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751371G>T , CM000664.2:g.241751371G>T	GRCh38
NC_000002.11:g.242690786G>T , CM000664.1:g.242690786G>T	GRCh37
NC_000002.10:g.242339459G>T	NCBI36
NG_012012.1:g.21757G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1123G>T MANE Select	ENSP00000315351.4:p.Asp375Tyr
ENST00000321264.8:c.1123G>T	ENSP00000315351.4:p.Asp375Tyr
ENST00000400769.6:c.854-4478G>T	ENSP00000383580.2:n.854-4478G>T
ENST00000403782.5:c.721G>T	ENSP00000384723.1:p.Asp241Tyr
ENST00000432449.1:c.383G>T
ENST00000436747.5:c.*1439G>T	ENSP00000400212.1:n.*1439G>T
ENST00000454048.1:c.226G>T	ENSP00000404596.1:p.Asp76Tyr
ENST00000467427.5:n.389+1077G>T
ENST00000470343.5:n.604G>T
ENST00000473126.1:n.322G>T
ENST00000486953.5:n.163+1077G>T
ENST00000496252.5:n.478G>T
NM_001287249.1:c.721G>T	NP_001274178.1:p.Asp241Tyr
NM_152783.4:c.1123G>T	NP_689996.4:p.Asp375Tyr
NR_109778.1:n.1063-4478G>T
XM_011511734.1:c.1201G>T	XP_011510036.1:p.Asp401Tyr
XM_011511735.1:c.1201G>T	XP_011510037.1:p.Asp401Tyr
XM_011511736.1:c.1123G>T	XP_011510038.1:p.Asp375Tyr
XM_011511737.1:c.1201G>T	XP_011510039.1:p.Asp401Tyr
XM_011511742.1:c.*21G>T	XP_011510044.1:n.*21G>T
XM_011511743.1:c.*21G>T	XP_011510045.1:n.*21G>T
XM_011511744.1:c.*21G>T	XP_011510046.1:n.*21G>T
XM_011511745.1:c.1201G>T	XP_011510047.1:p.Asp401Tyr
XM_011511748.1:c.*21G>T	XP_011510050.1:n.*21G>T
XM_011511749.1:c.1179+1077G>T	XP_011510051.1:n.1179+1077G>T
XM_011511750.1:c.1201G>T	XP_011510052.1:p.Asp401Tyr
XM_011511751.1:c.1212+792G>T	XP_011510053.1:n.1212+792G>T
XM_011511753.1:c.1075+1077G>T	XP_011510055.1:n.1075+1077G>T
XM_011511754.1:c.640G>T	XP_011510056.1:p.Asp214Tyr
XM_011511755.1:c.631G>T	XP_011510057.1:p.Asp211Tyr
XM_011511756.1:c.853+6494G>T	XP_011510058.1:n.853+6494G>T
XR_241434.3:n.1462G>T
XR_923003.1:n.1984G>T
XR_923004.1:n.1755G>T
XR_923005.1:n.1498G>T
XR_923006.1:n.1498G>T
XR_923007.1:n.1465G>T
XR_923008.1:n.1361G>T
XR_923009.1:n.1361G>T
XR_923010.1:n.1795G>T
XR_923011.1:n.1566G>T
XR_923012.1:n.1500G>T
XR_923014.1:n.1014-4478G>T
NM_001352824.1:c.562G>T	NP_001339753.1:p.Asp188Tyr
XM_011511734.2:c.1201G>T	XP_011510036.1:p.Asp401Tyr
XM_011511735.2:c.1201G>T	XP_011510037.1:p.Asp401Tyr
XM_011511736.2:c.1123G>T	XP_011510038.1:p.Asp375Tyr
XM_011511737.3:c.1201G>T	XP_011510039.1:p.Asp401Tyr
XM_011511743.2:c.*21G>T	XP_011510045.1:n.*21G>T
XM_011511744.2:c.*21G>T	XP_011510046.1:n.*21G>T
XM_011511745.3:c.1201G>T	XP_011510047.1:p.Asp401Tyr
XM_011511749.3:c.1179+1077G>T	XP_011510051.1:n.1179+1077G>T
XM_011511750.3:c.1201G>T	XP_011510052.1:p.Asp401Tyr
XM_011511751.2:c.1212+792G>T	XP_011510053.1:n.1212+792G>T
XM_011511753.3:c.1075+1077G>T	XP_011510055.1:n.1075+1077G>T
XM_011511756.2:c.853+6494G>T	XP_011510058.1:n.853+6494G>T
XM_017004828.2:c.1123G>T	XP_016860317.1:p.Asp375Tyr
XM_017004829.2:c.*21G>T	XP_016860318.1:n.*21G>T
XM_017004830.2:c.1201G>T	XP_016860319.1:p.Asp401Tyr
XM_024453102.1:c.973G>T	XP_024308870.1:p.Asp325Tyr
XR_001738918.2:n.1497G>T
XR_001738919.2:n.1431G>T
XR_002959334.1:n.1983G>T
XR_002959335.1:n.1627G>T
XR_241434.4:n.1461G>T
XR_923004.3:n.1754G>T
XR_923005.2:n.1497G>T
XR_923007.3:n.1464G>T
XR_923009.2:n.1360G>T
XR_923010.2:n.1794G>T
XR_923011.3:n.1565G>T
XR_923012.2:n.1499G>T
XR_923014.3:n.1013-4478G>T
NM_152783.5:c.1123G>T MANE Select	NP_689996.4:p.Asp375Tyr
NM_001287249.2:c.721G>T	NP_001274178.1:p.Asp241Tyr
NM_001352824.2:c.562G>T	NP_001339753.1:p.Asp188Tyr
NR_109778.2:n.1012-4478G>T