Canonical Allele Identifier: CA432092898

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690773G>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751358G>A , CM000664.2:g.241751358G>A	GRCh38
NC_000002.11:g.242690773G>A , CM000664.1:g.242690773G>A	GRCh37
NC_000002.10:g.242339446G>A	NCBI36
NG_012012.1:g.21744G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1110G>A MANE Select	ENSP00000315351.4:p.Gly370=
ENST00000321264.8:c.1110G>A	ENSP00000315351.4:p.Gly370=
ENST00000400769.6:c.854-4491G>A	ENSP00000383580.2:n.854-4491G>A
ENST00000403782.5:c.708G>A	ENSP00000384723.1:p.Gly236=
ENST00000432449.1:c.370G>A
ENST00000436747.5:c.*1426G>A	ENSP00000400212.1:n.*1426G>A
ENST00000454048.1:c.213G>A	ENSP00000404596.1:p.Gly71=
ENST00000467427.5:n.389+1064G>A
ENST00000470343.5:n.591G>A
ENST00000473126.1:n.309G>A
ENST00000486953.5:n.163+1064G>A
ENST00000496252.5:n.465G>A
NM_001287249.1:c.708G>A	NP_001274178.1:p.Gly236=
NM_152783.4:c.1110G>A	NP_689996.4:p.Gly370=
NR_109778.1:n.1063-4491G>A
XM_011511734.1:c.1188G>A	XP_011510036.1:p.Gly396=
XM_011511735.1:c.1188G>A	XP_011510037.1:p.Gly396=
XM_011511736.1:c.1110G>A	XP_011510038.1:p.Gly370=
XM_011511737.1:c.1188G>A	XP_011510039.1:p.Gly396=
XM_011511742.1:c.*8G>A	XP_011510044.1:n.*8G>A
XM_011511743.1:c.*8G>A	XP_011510045.1:n.*8G>A
XM_011511744.1:c.*8G>A	XP_011510046.1:n.*8G>A
XM_011511745.1:c.1188G>A	XP_011510047.1:p.Gly396=
XM_011511748.1:c.*8G>A	XP_011510050.1:n.*8G>A
XM_011511749.1:c.1179+1064G>A	XP_011510051.1:n.1179+1064G>A
XM_011511750.1:c.1188G>A	XP_011510052.1:p.Gly396=
XM_011511751.1:c.1212+779G>A	XP_011510053.1:n.1212+779G>A
XM_011511753.1:c.1075+1064G>A	XP_011510055.1:n.1075+1064G>A
XM_011511754.1:c.627G>A	XP_011510056.1:p.Gly209=
XM_011511755.1:c.618G>A	XP_011510057.1:p.Gly206=
XM_011511756.1:c.853+6481G>A	XP_011510058.1:n.853+6481G>A
XR_241434.3:n.1449G>A
XR_923003.1:n.1971G>A
XR_923004.1:n.1742G>A
XR_923005.1:n.1485G>A
XR_923006.1:n.1485G>A
XR_923007.1:n.1452G>A
XR_923008.1:n.1348G>A
XR_923009.1:n.1348G>A
XR_923010.1:n.1782G>A
XR_923011.1:n.1553G>A
XR_923012.1:n.1487G>A
XR_923014.1:n.1014-4491G>A
NM_001352824.1:c.549G>A	NP_001339753.1:p.Gly183=
XM_011511734.2:c.1188G>A	XP_011510036.1:p.Gly396=
XM_011511735.2:c.1188G>A	XP_011510037.1:p.Gly396=
XM_011511736.2:c.1110G>A	XP_011510038.1:p.Gly370=
XM_011511737.3:c.1188G>A	XP_011510039.1:p.Gly396=
XM_011511743.2:c.*8G>A	XP_011510045.1:n.*8G>A
XM_011511744.2:c.*8G>A	XP_011510046.1:n.*8G>A
XM_011511745.3:c.1188G>A	XP_011510047.1:p.Gly396=
XM_011511749.3:c.1179+1064G>A	XP_011510051.1:n.1179+1064G>A
XM_011511750.3:c.1188G>A	XP_011510052.1:p.Gly396=
XM_011511751.2:c.1212+779G>A	XP_011510053.1:n.1212+779G>A
XM_011511753.3:c.1075+1064G>A	XP_011510055.1:n.1075+1064G>A
XM_011511756.2:c.853+6481G>A	XP_011510058.1:n.853+6481G>A
XM_017004828.2:c.1110G>A	XP_016860317.1:p.Gly370=
XM_017004829.2:c.*8G>A	XP_016860318.1:n.*8G>A
XM_017004830.2:c.1188G>A	XP_016860319.1:p.Gly396=
XM_024453102.1:c.960G>A	XP_024308870.1:p.Gly320=
XR_001738918.2:n.1484G>A
XR_001738919.2:n.1418G>A
XR_002959334.1:n.1970G>A
XR_002959335.1:n.1614G>A
XR_241434.4:n.1448G>A
XR_923004.3:n.1741G>A
XR_923005.2:n.1484G>A
XR_923007.3:n.1451G>A
XR_923009.2:n.1347G>A
XR_923010.2:n.1781G>A
XR_923011.3:n.1552G>A
XR_923012.2:n.1486G>A
XR_923014.3:n.1013-4491G>A
NM_152783.5:c.1110G>A MANE Select	NP_689996.4:p.Gly370=
NM_001287249.2:c.708G>A	NP_001274178.1:p.Gly236=
NM_001352824.2:c.549G>A	NP_001339753.1:p.Gly183=
NR_109778.2:n.1012-4491G>A