Canonical Allele Identifier: CA432092822

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690752C>A (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751337C>A , CM000664.2:g.241751337C>A	GRCh38
NC_000002.11:g.242690752C>A , CM000664.1:g.242690752C>A	GRCh37
NC_000002.10:g.242339425C>A	NCBI36
NG_012012.1:g.21723C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1089C>A MANE Select	ENSP00000315351.4:p.Gly363=
ENST00000321264.8:c.1089C>A	ENSP00000315351.4:p.Gly363=
ENST00000400769.6:c.854-4512C>A	ENSP00000383580.2:n.854-4512C>A
ENST00000403782.5:c.687C>A	ENSP00000384723.1:p.Gly229=
ENST00000432449.1:c.349C>A
ENST00000436747.5:c.*1405C>A	ENSP00000400212.1:n.*1405C>A
ENST00000454048.1:c.192C>A	ENSP00000404596.1:p.Gly64=
ENST00000467427.5:n.389+1043C>A
ENST00000470343.5:n.570C>A
ENST00000473126.1:n.288C>A
ENST00000486953.5:n.163+1043C>A
ENST00000496252.5:n.444C>A
NM_001287249.1:c.687C>A	NP_001274178.1:p.Gly229=
NM_152783.4:c.1089C>A	NP_689996.4:p.Gly363=
NR_109778.1:n.1063-4512C>A
XM_011511734.1:c.1167C>A	XP_011510036.1:p.Gly389=
XM_011511735.1:c.1167C>A	XP_011510037.1:p.Gly389=
XM_011511736.1:c.1089C>A	XP_011510038.1:p.Gly363=
XM_011511737.1:c.1167C>A	XP_011510039.1:p.Gly389=
XM_011511742.1:c.1304C>A	XP_011510044.1:p.Ala435Asp
XM_011511743.1:c.1304C>A	XP_011510045.1:p.Ala435Asp
XM_011511744.1:c.1304C>A	XP_011510046.1:p.Ala435Asp
XM_011511745.1:c.1167C>A	XP_011510047.1:p.Gly389=
XM_011511748.1:c.1238C>A	XP_011510050.1:p.Ala413Asp
XM_011511749.1:c.1179+1043C>A	XP_011510051.1:n.1179+1043C>A
XM_011511750.1:c.1167C>A	XP_011510052.1:p.Gly389=
XM_011511751.1:c.1212+758C>A	XP_011510053.1:n.1212+758C>A
XM_011511753.1:c.1075+1043C>A	XP_011510055.1:n.1075+1043C>A
XM_011511754.1:c.606C>A	XP_011510056.1:p.Gly202=
XM_011511755.1:c.597C>A	XP_011510057.1:p.Gly199=
XM_011511756.1:c.853+6460C>A	XP_011510058.1:n.853+6460C>A
XR_241434.3:n.1428C>A
XR_923003.1:n.1950C>A
XR_923004.1:n.1721C>A
XR_923005.1:n.1464C>A
XR_923006.1:n.1464C>A
XR_923007.1:n.1431C>A
XR_923008.1:n.1327C>A
XR_923009.1:n.1327C>A
XR_923010.1:n.1761C>A
XR_923011.1:n.1532C>A
XR_923012.1:n.1466C>A
XR_923014.1:n.1014-4512C>A
NM_001352824.1:c.528C>A	NP_001339753.1:p.Gly176=
XM_011511734.2:c.1167C>A	XP_011510036.1:p.Gly389=
XM_011511735.2:c.1167C>A	XP_011510037.1:p.Gly389=
XM_011511736.2:c.1089C>A	XP_011510038.1:p.Gly363=
XM_011511737.3:c.1167C>A	XP_011510039.1:p.Gly389=
XM_011511743.2:c.1304C>A	XP_011510045.1:p.Ala435Asp
XM_011511744.2:c.1304C>A	XP_011510046.1:p.Ala435Asp
XM_011511745.3:c.1167C>A	XP_011510047.1:p.Gly389=
XM_011511749.3:c.1179+1043C>A	XP_011510051.1:n.1179+1043C>A
XM_011511750.3:c.1167C>A	XP_011510052.1:p.Gly389=
XM_011511751.2:c.1212+758C>A	XP_011510053.1:n.1212+758C>A
XM_011511753.3:c.1075+1043C>A	XP_011510055.1:n.1075+1043C>A
XM_011511756.2:c.853+6460C>A	XP_011510058.1:n.853+6460C>A
XM_017004828.2:c.1089C>A	XP_016860317.1:p.Gly363=
XM_017004829.2:c.1304C>A	XP_016860318.1:p.Ala435Asp
XM_017004830.2:c.1167C>A	XP_016860319.1:p.Gly389=
XM_024453102.1:c.939C>A	XP_024308870.1:p.Gly313=
XR_001738918.2:n.1463C>A
XR_001738919.2:n.1397C>A
XR_002959334.1:n.1949C>A
XR_002959335.1:n.1593C>A
XR_241434.4:n.1427C>A
XR_923004.3:n.1720C>A
XR_923005.2:n.1463C>A
XR_923007.3:n.1430C>A
XR_923009.2:n.1326C>A
XR_923010.2:n.1760C>A
XR_923011.3:n.1531C>A
XR_923012.2:n.1465C>A
XR_923014.3:n.1013-4512C>A
NM_152783.5:c.1089C>A MANE Select	NP_689996.4:p.Gly363=
NM_001287249.2:c.687C>A	NP_001274178.1:p.Gly229=
NM_001352824.2:c.528C>A	NP_001339753.1:p.Gly176=
NR_109778.2:n.1012-4512C>A