Canonical Allele Identifier: CA351408612

Gene: D2HGDH

Linked Data

• COSMIC: COSM5529556
• MyVariant Identifiers: chr2:g.242690666C>T (hg19) ; chr2:g.241751251C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751251C>T , CM000664.2:g.241751251C>T	GRCh38
NC_000002.11:g.242690666C>T , CM000664.1:g.242690666C>T	GRCh37
NC_000002.10:g.242339339C>T	NCBI36
NG_012012.1:g.21637C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1003C>T MANE Select	ENSP00000315351.4:p.Pro335Ser
ENST00000321264.8:c.1003C>T	ENSP00000315351.4:p.Pro335Ser
ENST00000400769.6:c.854-4598C>T	ENSP00000383580.2:n.854-4598C>T
ENST00000403782.5:c.601C>T	ENSP00000384723.1:p.Pro201Ser
ENST00000432449.1:c.263C>T
ENST00000436747.5:c.*1319C>T	ENSP00000400212.1:n.*1319C>T
ENST00000454048.1:c.106C>T	ENSP00000404596.1:p.Pro36Ser
ENST00000467427.5:n.389+957C>T
ENST00000470343.5:n.484C>T
ENST00000473126.1:n.202C>T
ENST00000486953.5:n.163+957C>T
ENST00000496252.5:n.358C>T
NM_001287249.1:c.601C>T	NP_001274178.1:p.Pro201Ser
NM_152783.4:c.1003C>T	NP_689996.4:p.Pro335Ser
NR_109778.1:n.1063-4598C>T
XM_011511734.1:c.1081C>T	XP_011510036.1:p.Pro361Ser
XM_011511735.1:c.1081C>T	XP_011510037.1:p.Pro361Ser
XM_011511736.1:c.1003C>T	XP_011510038.1:p.Pro335Ser
XM_011511737.1:c.1081C>T	XP_011510039.1:p.Pro361Ser
XM_011511742.1:c.1218C>T	XP_011510044.1:p.Val406=
XM_011511743.1:c.1218C>T	XP_011510045.1:p.Val406=
XM_011511744.1:c.1218C>T	XP_011510046.1:p.Val406=
XM_011511745.1:c.1081C>T	XP_011510047.1:p.Pro361Ser
XM_011511748.1:c.1152C>T	XP_011510050.1:p.Val384=
XM_011511749.1:c.1179+957C>T	XP_011510051.1:n.1179+957C>T
XM_011511750.1:c.1081C>T	XP_011510052.1:p.Pro361Ser
XM_011511751.1:c.1212+672C>T	XP_011510053.1:n.1212+672C>T
XM_011511753.1:c.1075+957C>T	XP_011510055.1:n.1075+957C>T
XM_011511754.1:c.520C>T	XP_011510056.1:p.Pro174Ser
XM_011511755.1:c.511C>T	XP_011510057.1:p.Pro171Ser
XM_011511756.1:c.853+6374C>T	XP_011510058.1:n.853+6374C>T
XM_011511757.1:c.*19C>T	XP_011510059.1:n.*19C>T
XR_241434.3:n.1342C>T
XR_923003.1:n.1864C>T
XR_923004.1:n.1635C>T
XR_923005.1:n.1378C>T
XR_923006.1:n.1378C>T
XR_923007.1:n.1345C>T
XR_923008.1:n.1241C>T
XR_923009.1:n.1241C>T
XR_923010.1:n.1675C>T
XR_923011.1:n.1446C>T
XR_923012.1:n.1380C>T
XR_923014.1:n.1014-4598C>T
NM_001352824.1:c.442C>T	NP_001339753.1:p.Pro148Ser
XM_011511734.2:c.1081C>T	XP_011510036.1:p.Pro361Ser
XM_011511735.2:c.1081C>T	XP_011510037.1:p.Pro361Ser
XM_011511736.2:c.1003C>T	XP_011510038.1:p.Pro335Ser
XM_011511737.3:c.1081C>T	XP_011510039.1:p.Pro361Ser
XM_011511743.2:c.1218C>T	XP_011510045.1:p.Val406=
XM_011511744.2:c.1218C>T	XP_011510046.1:p.Val406=
XM_011511745.3:c.1081C>T	XP_011510047.1:p.Pro361Ser
XM_011511749.3:c.1179+957C>T	XP_011510051.1:n.1179+957C>T
XM_011511750.3:c.1081C>T	XP_011510052.1:p.Pro361Ser
XM_011511751.2:c.1212+672C>T	XP_011510053.1:n.1212+672C>T
XM_011511753.3:c.1075+957C>T	XP_011510055.1:n.1075+957C>T
XM_011511756.2:c.853+6374C>T	XP_011510058.1:n.853+6374C>T
XM_011511757.3:c.*19C>T	XP_011510059.1:n.*19C>T
XM_017004828.2:c.1003C>T	XP_016860317.1:p.Pro335Ser
XM_017004829.2:c.1218C>T	XP_016860318.1:p.Val406=
XM_017004830.2:c.1081C>T	XP_016860319.1:p.Pro361Ser
XM_024453102.1:c.853C>T	XP_024308870.1:p.Pro285Ser
XR_001738918.2:n.1377C>T
XR_001738919.2:n.1311C>T
XR_002959334.1:n.1863C>T
XR_002959335.1:n.1507C>T
XR_241434.4:n.1341C>T
XR_923004.3:n.1634C>T
XR_923005.2:n.1377C>T
XR_923007.3:n.1344C>T
XR_923009.2:n.1240C>T
XR_923010.2:n.1674C>T
XR_923011.3:n.1445C>T
XR_923012.2:n.1379C>T
XR_923014.3:n.1013-4598C>T
NM_152783.5:c.1003C>T MANE Select	NP_689996.4:p.Pro335Ser
NM_001287249.2:c.601C>T	NP_001274178.1:p.Pro201Ser
NM_001352824.2:c.442C>T	NP_001339753.1:p.Pro148Ser
NR_109778.2:n.1012-4598C>T