Canonical Allele Identifier: CA68595610

Gene: D2HGDH

Linked Data

• dbSNP Id: rs183342534
• gnomAD v3: 2-241751331-G-T
• gnomAD v4: 2-241751331-G-T
• MyVariant Identifiers: chr2:g.242690746G>T (hg19) ; chr2:g.241751331G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751331G>T , CM000664.2:g.241751331G>T	GRCh38
NC_000002.11:g.242690746G>T , CM000664.1:g.242690746G>T	GRCh37
NC_000002.10:g.242339419G>T	NCBI36
NG_012012.1:g.21717G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1083G>T MANE Select	ENSP00000315351.4:p.Ala361=
ENST00000321264.8:c.1083G>T	ENSP00000315351.4:p.Ala361=
ENST00000400769.6:c.854-4518G>T	ENSP00000383580.2:n.854-4518G>T
ENST00000403782.5:c.681G>T	ENSP00000384723.1:p.Ala227=
ENST00000432449.1:c.343G>T
ENST00000436747.5:c.*1399G>T	ENSP00000400212.1:n.*1399G>T
ENST00000454048.1:c.186G>T	ENSP00000404596.1:p.Ala62=
ENST00000467427.5:n.389+1037G>T
ENST00000470343.5:n.564G>T
ENST00000473126.1:n.282G>T
ENST00000486953.5:n.163+1037G>T
ENST00000496252.5:n.438G>T
NM_001287249.1:c.681G>T	NP_001274178.1:p.Ala227=
NM_152783.4:c.1083G>T	NP_689996.4:p.Ala361=
NR_109778.1:n.1063-4518G>T
XM_011511734.1:c.1161G>T	XP_011510036.1:p.Ala387=
XM_011511735.1:c.1161G>T	XP_011510037.1:p.Ala387=
XM_011511736.1:c.1083G>T	XP_011510038.1:p.Ala361=
XM_011511737.1:c.1161G>T	XP_011510039.1:p.Ala387=
XM_011511742.1:c.1298G>T	XP_011510044.1:p.Arg433Leu
XM_011511743.1:c.1298G>T	XP_011510045.1:p.Arg433Leu
XM_011511744.1:c.1298G>T	XP_011510046.1:p.Arg433Leu
XM_011511745.1:c.1161G>T	XP_011510047.1:p.Ala387=
XM_011511748.1:c.1232G>T	XP_011510050.1:p.Arg411Leu
XM_011511749.1:c.1179+1037G>T	XP_011510051.1:n.1179+1037G>T
XM_011511750.1:c.1161G>T	XP_011510052.1:p.Ala387=
XM_011511751.1:c.1212+752G>T	XP_011510053.1:n.1212+752G>T
XM_011511753.1:c.1075+1037G>T	XP_011510055.1:n.1075+1037G>T
XM_011511754.1:c.600G>T	XP_011510056.1:p.Ala200=
XM_011511755.1:c.591G>T	XP_011510057.1:p.Ala197=
XM_011511756.1:c.853+6454G>T	XP_011510058.1:n.853+6454G>T
XR_241434.3:n.1422G>T
XR_923003.1:n.1944G>T
XR_923004.1:n.1715G>T
XR_923005.1:n.1458G>T
XR_923006.1:n.1458G>T
XR_923007.1:n.1425G>T
XR_923008.1:n.1321G>T
XR_923009.1:n.1321G>T
XR_923010.1:n.1755G>T
XR_923011.1:n.1526G>T
XR_923012.1:n.1460G>T
XR_923014.1:n.1014-4518G>T
NM_001352824.1:c.522G>T	NP_001339753.1:p.Ala174=
XM_011511734.2:c.1161G>T	XP_011510036.1:p.Ala387=
XM_011511735.2:c.1161G>T	XP_011510037.1:p.Ala387=
XM_011511736.2:c.1083G>T	XP_011510038.1:p.Ala361=
XM_011511737.3:c.1161G>T	XP_011510039.1:p.Ala387=
XM_011511743.2:c.1298G>T	XP_011510045.1:p.Arg433Leu
XM_011511744.2:c.1298G>T	XP_011510046.1:p.Arg433Leu
XM_011511745.3:c.1161G>T	XP_011510047.1:p.Ala387=
XM_011511749.3:c.1179+1037G>T	XP_011510051.1:n.1179+1037G>T
XM_011511750.3:c.1161G>T	XP_011510052.1:p.Ala387=
XM_011511751.2:c.1212+752G>T	XP_011510053.1:n.1212+752G>T
XM_011511753.3:c.1075+1037G>T	XP_011510055.1:n.1075+1037G>T
XM_011511756.2:c.853+6454G>T	XP_011510058.1:n.853+6454G>T
XM_017004828.2:c.1083G>T	XP_016860317.1:p.Ala361=
XM_017004829.2:c.1298G>T	XP_016860318.1:p.Arg433Leu
XM_017004830.2:c.1161G>T	XP_016860319.1:p.Ala387=
XM_024453102.1:c.933G>T	XP_024308870.1:p.Ala311=
XR_001738918.2:n.1457G>T
XR_001738919.2:n.1391G>T
XR_002959334.1:n.1943G>T
XR_002959335.1:n.1587G>T
XR_241434.4:n.1421G>T
XR_923004.3:n.1714G>T
XR_923005.2:n.1457G>T
XR_923007.3:n.1424G>T
XR_923009.2:n.1320G>T
XR_923010.2:n.1754G>T
XR_923011.3:n.1525G>T
XR_923012.2:n.1459G>T
XR_923014.3:n.1013-4518G>T
NM_152783.5:c.1083G>T MANE Select	NP_689996.4:p.Ala361=
NM_001287249.2:c.681G>T	NP_001274178.1:p.Ala227=
NM_001352824.2:c.522G>T	NP_001339753.1:p.Ala174=
NR_109778.2:n.1012-4518G>T