Canonical Allele Identifier: CA351408762

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690739A>C (hg19) ; chr2:g.241751324A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751324A>C , CM000664.2:g.241751324A>C	GRCh38
NC_000002.11:g.242690739A>C , CM000664.1:g.242690739A>C	GRCh37
NC_000002.10:g.242339412A>C	NCBI36
NG_012012.1:g.21710A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1076A>C MANE Select	ENSP00000315351.4:p.Glu359Ala
ENST00000321264.8:c.1076A>C	ENSP00000315351.4:p.Glu359Ala
ENST00000400769.6:c.854-4525A>C	ENSP00000383580.2:n.854-4525A>C
ENST00000403782.5:c.674A>C	ENSP00000384723.1:p.Glu225Ala
ENST00000432449.1:c.336A>C
ENST00000436747.5:c.*1392A>C	ENSP00000400212.1:n.*1392A>C
ENST00000454048.1:c.179A>C	ENSP00000404596.1:p.Glu60Ala
ENST00000467427.5:n.389+1030A>C
ENST00000470343.5:n.557A>C
ENST00000473126.1:n.275A>C
ENST00000486953.5:n.163+1030A>C
ENST00000496252.5:n.431A>C
NM_001287249.1:c.674A>C	NP_001274178.1:p.Glu225Ala
NM_152783.4:c.1076A>C	NP_689996.4:p.Glu359Ala
NR_109778.1:n.1063-4525A>C
XM_011511734.1:c.1154A>C	XP_011510036.1:p.Glu385Ala
XM_011511735.1:c.1154A>C	XP_011510037.1:p.Glu385Ala
XM_011511736.1:c.1076A>C	XP_011510038.1:p.Glu359Ala
XM_011511737.1:c.1154A>C	XP_011510039.1:p.Glu385Ala
XM_011511742.1:c.1291A>C	XP_011510044.1:p.Ser431Arg
XM_011511743.1:c.1291A>C	XP_011510045.1:p.Ser431Arg
XM_011511744.1:c.1291A>C	XP_011510046.1:p.Ser431Arg
XM_011511745.1:c.1154A>C	XP_011510047.1:p.Glu385Ala
XM_011511748.1:c.1225A>C	XP_011510050.1:p.Ser409Arg
XM_011511749.1:c.1179+1030A>C	XP_011510051.1:n.1179+1030A>C
XM_011511750.1:c.1154A>C	XP_011510052.1:p.Glu385Ala
XM_011511751.1:c.1212+745A>C	XP_011510053.1:n.1212+745A>C
XM_011511753.1:c.1075+1030A>C	XP_011510055.1:n.1075+1030A>C
XM_011511754.1:c.593A>C	XP_011510056.1:p.Glu198Ala
XM_011511755.1:c.584A>C	XP_011510057.1:p.Glu195Ala
XM_011511756.1:c.853+6447A>C	XP_011510058.1:n.853+6447A>C
XM_011511757.1:c.*92A>C	XP_011510059.1:n.*92A>C
XR_241434.3:n.1415A>C
XR_923003.1:n.1937A>C
XR_923004.1:n.1708A>C
XR_923005.1:n.1451A>C
XR_923006.1:n.1451A>C
XR_923007.1:n.1418A>C
XR_923008.1:n.1314A>C
XR_923009.1:n.1314A>C
XR_923010.1:n.1748A>C
XR_923011.1:n.1519A>C
XR_923012.1:n.1453A>C
XR_923014.1:n.1014-4525A>C
NM_001352824.1:c.515A>C	NP_001339753.1:p.Glu172Ala
XM_011511734.2:c.1154A>C	XP_011510036.1:p.Glu385Ala
XM_011511735.2:c.1154A>C	XP_011510037.1:p.Glu385Ala
XM_011511736.2:c.1076A>C	XP_011510038.1:p.Glu359Ala
XM_011511737.3:c.1154A>C	XP_011510039.1:p.Glu385Ala
XM_011511743.2:c.1291A>C	XP_011510045.1:p.Ser431Arg
XM_011511744.2:c.1291A>C	XP_011510046.1:p.Ser431Arg
XM_011511745.3:c.1154A>C	XP_011510047.1:p.Glu385Ala
XM_011511749.3:c.1179+1030A>C	XP_011510051.1:n.1179+1030A>C
XM_011511750.3:c.1154A>C	XP_011510052.1:p.Glu385Ala
XM_011511751.2:c.1212+745A>C	XP_011510053.1:n.1212+745A>C
XM_011511753.3:c.1075+1030A>C	XP_011510055.1:n.1075+1030A>C
XM_011511756.2:c.853+6447A>C	XP_011510058.1:n.853+6447A>C
XM_017004828.2:c.1076A>C	XP_016860317.1:p.Glu359Ala
XM_017004829.2:c.1291A>C	XP_016860318.1:p.Ser431Arg
XM_017004830.2:c.1154A>C	XP_016860319.1:p.Glu385Ala
XM_024453102.1:c.926A>C	XP_024308870.1:p.Glu309Ala
XR_001738918.2:n.1450A>C
XR_001738919.2:n.1384A>C
XR_002959334.1:n.1936A>C
XR_002959335.1:n.1580A>C
XR_241434.4:n.1414A>C
XR_923004.3:n.1707A>C
XR_923005.2:n.1450A>C
XR_923007.3:n.1417A>C
XR_923009.2:n.1313A>C
XR_923010.2:n.1747A>C
XR_923011.3:n.1518A>C
XR_923012.2:n.1452A>C
XR_923014.3:n.1013-4525A>C
NM_152783.5:c.1076A>C MANE Select	NP_689996.4:p.Glu359Ala
NM_001287249.2:c.674A>C	NP_001274178.1:p.Glu225Ala
NM_001352824.2:c.515A>C	NP_001339753.1:p.Glu172Ala
NR_109778.2:n.1012-4525A>C