Canonical Allele Identifier: CA351408646

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690684G>C (hg19) ; chr2:g.241751269G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751269G>C , CM000664.2:g.241751269G>C	GRCh38
NC_000002.11:g.242690684G>C , CM000664.1:g.242690684G>C	GRCh37
NC_000002.10:g.242339357G>C	NCBI36
NG_012012.1:g.21655G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1021G>C MANE Select	ENSP00000315351.4:p.Glu341Gln
ENST00000321264.8:c.1021G>C	ENSP00000315351.4:p.Glu341Gln
ENST00000400769.6:c.854-4580G>C	ENSP00000383580.2:n.854-4580G>C
ENST00000403782.5:c.619G>C	ENSP00000384723.1:p.Glu207Gln
ENST00000432449.1:c.281G>C
ENST00000436747.5:c.*1337G>C	ENSP00000400212.1:n.*1337G>C
ENST00000454048.1:c.124G>C	ENSP00000404596.1:p.Glu42Gln
ENST00000467427.5:n.389+975G>C
ENST00000470343.5:n.502G>C
ENST00000473126.1:n.220G>C
ENST00000486953.5:n.163+975G>C
ENST00000496252.5:n.376G>C
NM_001287249.1:c.619G>C	NP_001274178.1:p.Glu207Gln
NM_152783.4:c.1021G>C	NP_689996.4:p.Glu341Gln
NR_109778.1:n.1063-4580G>C
XM_011511734.1:c.1099G>C	XP_011510036.1:p.Glu367Gln
XM_011511735.1:c.1099G>C	XP_011510037.1:p.Glu367Gln
XM_011511736.1:c.1021G>C	XP_011510038.1:p.Glu341Gln
XM_011511737.1:c.1099G>C	XP_011510039.1:p.Glu367Gln
XM_011511742.1:c.1236G>C	XP_011510044.1:p.Ser412=
XM_011511743.1:c.1236G>C	XP_011510045.1:p.Ser412=
XM_011511744.1:c.1236G>C	XP_011510046.1:p.Ser412=
XM_011511745.1:c.1099G>C	XP_011510047.1:p.Glu367Gln
XM_011511748.1:c.1170G>C	XP_011510050.1:p.Ser390=
XM_011511749.1:c.1179+975G>C	XP_011510051.1:n.1179+975G>C
XM_011511750.1:c.1099G>C	XP_011510052.1:p.Glu367Gln
XM_011511751.1:c.1212+690G>C	XP_011510053.1:n.1212+690G>C
XM_011511753.1:c.1075+975G>C	XP_011510055.1:n.1075+975G>C
XM_011511754.1:c.538G>C	XP_011510056.1:p.Glu180Gln
XM_011511755.1:c.529G>C	XP_011510057.1:p.Glu177Gln
XM_011511756.1:c.853+6392G>C	XP_011510058.1:n.853+6392G>C
XM_011511757.1:c.*37G>C	XP_011510059.1:n.*37G>C
XR_241434.3:n.1360G>C
XR_923003.1:n.1882G>C
XR_923004.1:n.1653G>C
XR_923005.1:n.1396G>C
XR_923006.1:n.1396G>C
XR_923007.1:n.1363G>C
XR_923008.1:n.1259G>C
XR_923009.1:n.1259G>C
XR_923010.1:n.1693G>C
XR_923011.1:n.1464G>C
XR_923012.1:n.1398G>C
XR_923014.1:n.1014-4580G>C
NM_001352824.1:c.460G>C	NP_001339753.1:p.Glu154Gln
XM_011511734.2:c.1099G>C	XP_011510036.1:p.Glu367Gln
XM_011511735.2:c.1099G>C	XP_011510037.1:p.Glu367Gln
XM_011511736.2:c.1021G>C	XP_011510038.1:p.Glu341Gln
XM_011511737.3:c.1099G>C	XP_011510039.1:p.Glu367Gln
XM_011511743.2:c.1236G>C	XP_011510045.1:p.Ser412=
XM_011511744.2:c.1236G>C	XP_011510046.1:p.Ser412=
XM_011511745.3:c.1099G>C	XP_011510047.1:p.Glu367Gln
XM_011511749.3:c.1179+975G>C	XP_011510051.1:n.1179+975G>C
XM_011511750.3:c.1099G>C	XP_011510052.1:p.Glu367Gln
XM_011511751.2:c.1212+690G>C	XP_011510053.1:n.1212+690G>C
XM_011511753.3:c.1075+975G>C	XP_011510055.1:n.1075+975G>C
XM_011511756.2:c.853+6392G>C	XP_011510058.1:n.853+6392G>C
XM_011511757.3:c.*37G>C	XP_011510059.1:n.*37G>C
XM_017004828.2:c.1021G>C	XP_016860317.1:p.Glu341Gln
XM_017004829.2:c.1236G>C	XP_016860318.1:p.Ser412=
XM_017004830.2:c.1099G>C	XP_016860319.1:p.Glu367Gln
XM_024453102.1:c.871G>C	XP_024308870.1:p.Glu291Gln
XR_001738918.2:n.1395G>C
XR_001738919.2:n.1329G>C
XR_002959334.1:n.1881G>C
XR_002959335.1:n.1525G>C
XR_241434.4:n.1359G>C
XR_923004.3:n.1652G>C
XR_923005.2:n.1395G>C
XR_923007.3:n.1362G>C
XR_923009.2:n.1258G>C
XR_923010.2:n.1692G>C
XR_923011.3:n.1463G>C
XR_923012.2:n.1397G>C
XR_923014.3:n.1013-4580G>C
NM_152783.5:c.1021G>C MANE Select	NP_689996.4:p.Glu341Gln
NM_001287249.2:c.619G>C	NP_001274178.1:p.Glu207Gln
NM_001352824.2:c.460G>C	NP_001339753.1:p.Glu154Gln
NR_109778.2:n.1012-4580G>C