Canonical Allele Identifier: CA351408835

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690778T>G (hg19) ; chr2:g.241751363T>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751363T>G , CM000664.2:g.241751363T>G	GRCh38
NC_000002.11:g.242690778T>G , CM000664.1:g.242690778T>G	GRCh37
NC_000002.10:g.242339451T>G	NCBI36
NG_012012.1:g.21749T>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1115T>G MANE Select	ENSP00000315351.4:p.Met372Arg
ENST00000321264.8:c.1115T>G	ENSP00000315351.4:p.Met372Arg
ENST00000400769.6:c.854-4486T>G	ENSP00000383580.2:n.854-4486T>G
ENST00000403782.5:c.713T>G	ENSP00000384723.1:p.Met238Arg
ENST00000432449.1:c.375T>G
ENST00000436747.5:c.*1431T>G	ENSP00000400212.1:n.*1431T>G
ENST00000454048.1:c.218T>G	ENSP00000404596.1:p.Met73Arg
ENST00000467427.5:n.389+1069T>G
ENST00000470343.5:n.596T>G
ENST00000473126.1:n.314T>G
ENST00000486953.5:n.163+1069T>G
ENST00000496252.5:n.470T>G
NM_001287249.1:c.713T>G	NP_001274178.1:p.Met238Arg
NM_152783.4:c.1115T>G	NP_689996.4:p.Met372Arg
NR_109778.1:n.1063-4486T>G
XM_011511734.1:c.1193T>G	XP_011510036.1:p.Met398Arg
XM_011511735.1:c.1193T>G	XP_011510037.1:p.Met398Arg
XM_011511736.1:c.1115T>G	XP_011510038.1:p.Met372Arg
XM_011511737.1:c.1193T>G	XP_011510039.1:p.Met398Arg
XM_011511742.1:c.*13T>G	XP_011510044.1:n.*13T>G
XM_011511743.1:c.*13T>G	XP_011510045.1:n.*13T>G
XM_011511744.1:c.*13T>G	XP_011510046.1:n.*13T>G
XM_011511745.1:c.1193T>G	XP_011510047.1:p.Met398Arg
XM_011511748.1:c.*13T>G	XP_011510050.1:n.*13T>G
XM_011511749.1:c.1179+1069T>G	XP_011510051.1:n.1179+1069T>G
XM_011511750.1:c.1193T>G	XP_011510052.1:p.Met398Arg
XM_011511751.1:c.1212+784T>G	XP_011510053.1:n.1212+784T>G
XM_011511753.1:c.1075+1069T>G	XP_011510055.1:n.1075+1069T>G
XM_011511754.1:c.632T>G	XP_011510056.1:p.Met211Arg
XM_011511755.1:c.623T>G	XP_011510057.1:p.Met208Arg
XM_011511756.1:c.853+6486T>G	XP_011510058.1:n.853+6486T>G
XR_241434.3:n.1454T>G
XR_923003.1:n.1976T>G
XR_923004.1:n.1747T>G
XR_923005.1:n.1490T>G
XR_923006.1:n.1490T>G
XR_923007.1:n.1457T>G
XR_923008.1:n.1353T>G
XR_923009.1:n.1353T>G
XR_923010.1:n.1787T>G
XR_923011.1:n.1558T>G
XR_923012.1:n.1492T>G
XR_923014.1:n.1014-4486T>G
NM_001352824.1:c.554T>G	NP_001339753.1:p.Met185Arg
XM_011511734.2:c.1193T>G	XP_011510036.1:p.Met398Arg
XM_011511735.2:c.1193T>G	XP_011510037.1:p.Met398Arg
XM_011511736.2:c.1115T>G	XP_011510038.1:p.Met372Arg
XM_011511737.3:c.1193T>G	XP_011510039.1:p.Met398Arg
XM_011511743.2:c.*13T>G	XP_011510045.1:n.*13T>G
XM_011511744.2:c.*13T>G	XP_011510046.1:n.*13T>G
XM_011511745.3:c.1193T>G	XP_011510047.1:p.Met398Arg
XM_011511749.3:c.1179+1069T>G	XP_011510051.1:n.1179+1069T>G
XM_011511750.3:c.1193T>G	XP_011510052.1:p.Met398Arg
XM_011511751.2:c.1212+784T>G	XP_011510053.1:n.1212+784T>G
XM_011511753.3:c.1075+1069T>G	XP_011510055.1:n.1075+1069T>G
XM_011511756.2:c.853+6486T>G	XP_011510058.1:n.853+6486T>G
XM_017004828.2:c.1115T>G	XP_016860317.1:p.Met372Arg
XM_017004829.2:c.*13T>G	XP_016860318.1:n.*13T>G
XM_017004830.2:c.1193T>G	XP_016860319.1:p.Met398Arg
XM_024453102.1:c.965T>G	XP_024308870.1:p.Met322Arg
XR_001738918.2:n.1489T>G
XR_001738919.2:n.1423T>G
XR_002959334.1:n.1975T>G
XR_002959335.1:n.1619T>G
XR_241434.4:n.1453T>G
XR_923004.3:n.1746T>G
XR_923005.2:n.1489T>G
XR_923007.3:n.1456T>G
XR_923009.2:n.1352T>G
XR_923010.2:n.1786T>G
XR_923011.3:n.1557T>G
XR_923012.2:n.1491T>G
XR_923014.3:n.1013-4486T>G
NM_152783.5:c.1115T>G MANE Select	NP_689996.4:p.Met372Arg
NM_001287249.2:c.713T>G	NP_001274178.1:p.Met238Arg
NM_001352824.2:c.554T>G	NP_001339753.1:p.Met185Arg
NR_109778.2:n.1012-4486T>G