Canonical Allele Identifier: CA2221903

Gene: D2HGDH

Linked Data

• ClinVar Variation Id: 834472
• ClinVar RCV Id: RCV001035164 ; RCV002552082
• dbSNP Id: rs142624021
• ExAC: 2:242690702 G / A
• gnomAD v2: 2-242690702-G-A
• gnomAD v3: 2-241751287-G-A
• gnomAD v4: 2-241751287-G-A
• MyVariant Identifiers: chr2:g.242690702G>A (hg19) ; chr2:g.241751287G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751287G>A , CM000664.2:g.241751287G>A	GRCh38
NC_000002.11:g.242690702G>A , CM000664.1:g.242690702G>A	GRCh37
NC_000002.10:g.242339375G>A	NCBI36
NG_012012.1:g.21673G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1039G>A MANE Select	ENSP00000315351.4:p.Ala347Thr
ENST00000321264.8:c.1039G>A	ENSP00000315351.4:p.Ala347Thr
ENST00000400769.6:c.854-4562G>A	ENSP00000383580.2:n.854-4562G>A
ENST00000403782.5:c.637G>A	ENSP00000384723.1:p.Ala213Thr
ENST00000432449.1:c.299G>A
ENST00000436747.5:c.*1355G>A	ENSP00000400212.1:n.*1355G>A
ENST00000454048.1:c.142G>A	ENSP00000404596.1:p.Ala48Thr
ENST00000467427.5:n.389+993G>A
ENST00000470343.5:n.520G>A
ENST00000473126.1:n.238G>A
ENST00000486953.5:n.163+993G>A
ENST00000496252.5:n.394G>A
NM_001287249.1:c.637G>A	NP_001274178.1:p.Ala213Thr
NM_152783.4:c.1039G>A	NP_689996.4:p.Ala347Thr
NR_109778.1:n.1063-4562G>A
XM_011511734.1:c.1117G>A	XP_011510036.1:p.Ala373Thr
XM_011511735.1:c.1117G>A	XP_011510037.1:p.Ala373Thr
XM_011511736.1:c.1039G>A	XP_011510038.1:p.Ala347Thr
XM_011511737.1:c.1117G>A	XP_011510039.1:p.Ala373Thr
XM_011511742.1:c.1254G>A	XP_011510044.1:p.Thr418=
XM_011511743.1:c.1254G>A	XP_011510045.1:p.Thr418=
XM_011511744.1:c.1254G>A	XP_011510046.1:p.Thr418=
XM_011511745.1:c.1117G>A	XP_011510047.1:p.Ala373Thr
XM_011511748.1:c.1188G>A	XP_011510050.1:p.Thr396=
XM_011511749.1:c.1179+993G>A	XP_011510051.1:n.1179+993G>A
XM_011511750.1:c.1117G>A	XP_011510052.1:p.Ala373Thr
XM_011511751.1:c.1212+708G>A	XP_011510053.1:n.1212+708G>A
XM_011511753.1:c.1075+993G>A	XP_011510055.1:n.1075+993G>A
XM_011511754.1:c.556G>A	XP_011510056.1:p.Ala186Thr
XM_011511755.1:c.547G>A	XP_011510057.1:p.Ala183Thr
XM_011511756.1:c.853+6410G>A	XP_011510058.1:n.853+6410G>A
XM_011511757.1:c.*55G>A	XP_011510059.1:n.*55G>A
XR_241434.3:n.1378G>A
XR_923003.1:n.1900G>A
XR_923004.1:n.1671G>A
XR_923005.1:n.1414G>A
XR_923006.1:n.1414G>A
XR_923007.1:n.1381G>A
XR_923008.1:n.1277G>A
XR_923009.1:n.1277G>A
XR_923010.1:n.1711G>A
XR_923011.1:n.1482G>A
XR_923012.1:n.1416G>A
XR_923014.1:n.1014-4562G>A
NM_001352824.1:c.478G>A	NP_001339753.1:p.Ala160Thr
XM_011511734.2:c.1117G>A	XP_011510036.1:p.Ala373Thr
XM_011511735.2:c.1117G>A	XP_011510037.1:p.Ala373Thr
XM_011511736.2:c.1039G>A	XP_011510038.1:p.Ala347Thr
XM_011511737.3:c.1117G>A	XP_011510039.1:p.Ala373Thr
XM_011511743.2:c.1254G>A	XP_011510045.1:p.Thr418=
XM_011511744.2:c.1254G>A	XP_011510046.1:p.Thr418=
XM_011511745.3:c.1117G>A	XP_011510047.1:p.Ala373Thr
XM_011511749.3:c.1179+993G>A	XP_011510051.1:n.1179+993G>A
XM_011511750.3:c.1117G>A	XP_011510052.1:p.Ala373Thr
XM_011511751.2:c.1212+708G>A	XP_011510053.1:n.1212+708G>A
XM_011511753.3:c.1075+993G>A	XP_011510055.1:n.1075+993G>A
XM_011511756.2:c.853+6410G>A	XP_011510058.1:n.853+6410G>A
XM_011511757.3:c.*55G>A	XP_011510059.1:n.*55G>A
XM_017004828.2:c.1039G>A	XP_016860317.1:p.Ala347Thr
XM_017004829.2:c.1254G>A	XP_016860318.1:p.Thr418=
XM_017004830.2:c.1117G>A	XP_016860319.1:p.Ala373Thr
XM_024453102.1:c.889G>A	XP_024308870.1:p.Ala297Thr
XR_001738918.2:n.1413G>A
XR_001738919.2:n.1347G>A
XR_002959334.1:n.1899G>A
XR_002959335.1:n.1543G>A
XR_241434.4:n.1377G>A
XR_923004.3:n.1670G>A
XR_923005.2:n.1413G>A
XR_923007.3:n.1380G>A
XR_923009.2:n.1276G>A
XR_923010.2:n.1710G>A
XR_923011.3:n.1481G>A
XR_923012.2:n.1415G>A
XR_923014.3:n.1013-4562G>A
NM_152783.5:c.1039G>A MANE Select	NP_689996.4:p.Ala347Thr
NM_001287249.2:c.637G>A	NP_001274178.1:p.Ala213Thr
NM_001352824.2:c.478G>A	NP_001339753.1:p.Ala160Thr
NR_109778.2:n.1012-4562G>A