Canonical Allele Identifier: CA432092542

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690668G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751253G>C , CM000664.2:g.241751253G>C	GRCh38
NC_000002.11:g.242690668G>C , CM000664.1:g.242690668G>C	GRCh37
NC_000002.10:g.242339341G>C	NCBI36
NG_012012.1:g.21639G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1005G>C MANE Select	ENSP00000315351.4:p.Pro335=
ENST00000321264.8:c.1005G>C	ENSP00000315351.4:p.Pro335=
ENST00000400769.6:c.854-4596G>C	ENSP00000383580.2:n.854-4596G>C
ENST00000403782.5:c.603G>C	ENSP00000384723.1:p.Pro201=
ENST00000432449.1:c.265G>C
ENST00000436747.5:c.*1321G>C	ENSP00000400212.1:n.*1321G>C
ENST00000454048.1:c.108G>C	ENSP00000404596.1:p.Pro36=
ENST00000467427.5:n.389+959G>C
ENST00000470343.5:n.486G>C
ENST00000473126.1:n.204G>C
ENST00000486953.5:n.163+959G>C
ENST00000496252.5:n.360G>C
NM_001287249.1:c.603G>C	NP_001274178.1:p.Pro201=
NM_152783.4:c.1005G>C	NP_689996.4:p.Pro335=
NR_109778.1:n.1063-4596G>C
XM_011511734.1:c.1083G>C	XP_011510036.1:p.Pro361=
XM_011511735.1:c.1083G>C	XP_011510037.1:p.Pro361=
XM_011511736.1:c.1005G>C	XP_011510038.1:p.Pro335=
XM_011511737.1:c.1083G>C	XP_011510039.1:p.Pro361=
XM_011511742.1:c.1220G>C	XP_011510044.1:p.Arg407Pro
XM_011511743.1:c.1220G>C	XP_011510045.1:p.Arg407Pro
XM_011511744.1:c.1220G>C	XP_011510046.1:p.Arg407Pro
XM_011511745.1:c.1083G>C	XP_011510047.1:p.Pro361=
XM_011511748.1:c.1154G>C	XP_011510050.1:p.Arg385Pro
XM_011511749.1:c.1179+959G>C	XP_011510051.1:n.1179+959G>C
XM_011511750.1:c.1083G>C	XP_011510052.1:p.Pro361=
XM_011511751.1:c.1212+674G>C	XP_011510053.1:n.1212+674G>C
XM_011511753.1:c.1075+959G>C	XP_011510055.1:n.1075+959G>C
XM_011511754.1:c.522G>C	XP_011510056.1:p.Pro174=
XM_011511755.1:c.513G>C	XP_011510057.1:p.Pro171=
XM_011511756.1:c.853+6376G>C	XP_011510058.1:n.853+6376G>C
XM_011511757.1:c.*21G>C	XP_011510059.1:n.*21G>C
XR_241434.3:n.1344G>C
XR_923003.1:n.1866G>C
XR_923004.1:n.1637G>C
XR_923005.1:n.1380G>C
XR_923006.1:n.1380G>C
XR_923007.1:n.1347G>C
XR_923008.1:n.1243G>C
XR_923009.1:n.1243G>C
XR_923010.1:n.1677G>C
XR_923011.1:n.1448G>C
XR_923012.1:n.1382G>C
XR_923014.1:n.1014-4596G>C
NM_001352824.1:c.444G>C	NP_001339753.1:p.Pro148=
XM_011511734.2:c.1083G>C	XP_011510036.1:p.Pro361=
XM_011511735.2:c.1083G>C	XP_011510037.1:p.Pro361=
XM_011511736.2:c.1005G>C	XP_011510038.1:p.Pro335=
XM_011511737.3:c.1083G>C	XP_011510039.1:p.Pro361=
XM_011511743.2:c.1220G>C	XP_011510045.1:p.Arg407Pro
XM_011511744.2:c.1220G>C	XP_011510046.1:p.Arg407Pro
XM_011511745.3:c.1083G>C	XP_011510047.1:p.Pro361=
XM_011511749.3:c.1179+959G>C	XP_011510051.1:n.1179+959G>C
XM_011511750.3:c.1083G>C	XP_011510052.1:p.Pro361=
XM_011511751.2:c.1212+674G>C	XP_011510053.1:n.1212+674G>C
XM_011511753.3:c.1075+959G>C	XP_011510055.1:n.1075+959G>C
XM_011511756.2:c.853+6376G>C	XP_011510058.1:n.853+6376G>C
XM_011511757.3:c.*21G>C	XP_011510059.1:n.*21G>C
XM_017004828.2:c.1005G>C	XP_016860317.1:p.Pro335=
XM_017004829.2:c.1220G>C	XP_016860318.1:p.Arg407Pro
XM_017004830.2:c.1083G>C	XP_016860319.1:p.Pro361=
XM_024453102.1:c.855G>C	XP_024308870.1:p.Pro285=
XR_001738918.2:n.1379G>C
XR_001738919.2:n.1313G>C
XR_002959334.1:n.1865G>C
XR_002959335.1:n.1509G>C
XR_241434.4:n.1343G>C
XR_923004.3:n.1636G>C
XR_923005.2:n.1379G>C
XR_923007.3:n.1346G>C
XR_923009.2:n.1242G>C
XR_923010.2:n.1676G>C
XR_923011.3:n.1447G>C
XR_923012.2:n.1381G>C
XR_923014.3:n.1013-4596G>C
NM_152783.5:c.1005G>C MANE Select	NP_689996.4:p.Pro335=
NM_001287249.2:c.603G>C	NP_001274178.1:p.Pro201=
NM_001352824.2:c.444G>C	NP_001339753.1:p.Pro148=
NR_109778.2:n.1012-4596G>C