Canonical Allele Identifier: CA351408712

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690715C>G (hg19) ; chr2:g.241751300C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751300C>G , CM000664.2:g.241751300C>G	GRCh38
NC_000002.11:g.242690715C>G , CM000664.1:g.242690715C>G	GRCh37
NC_000002.10:g.242339388C>G	NCBI36
NG_012012.1:g.21686C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1052C>G MANE Select	ENSP00000315351.4:p.Ala351Gly
ENST00000321264.8:c.1052C>G	ENSP00000315351.4:p.Ala351Gly
ENST00000400769.6:c.854-4549C>G	ENSP00000383580.2:n.854-4549C>G
ENST00000403782.5:c.650C>G	ENSP00000384723.1:p.Ala217Gly
ENST00000432449.1:c.312C>G
ENST00000436747.5:c.*1368C>G	ENSP00000400212.1:n.*1368C>G
ENST00000454048.1:c.155C>G	ENSP00000404596.1:p.Ala52Gly
ENST00000467427.5:n.389+1006C>G
ENST00000470343.5:n.533C>G
ENST00000473126.1:n.251C>G
ENST00000486953.5:n.163+1006C>G
ENST00000496252.5:n.407C>G
NM_001287249.1:c.650C>G	NP_001274178.1:p.Ala217Gly
NM_152783.4:c.1052C>G	NP_689996.4:p.Ala351Gly
NR_109778.1:n.1063-4549C>G
XM_011511734.1:c.1130C>G	XP_011510036.1:p.Ala377Gly
XM_011511735.1:c.1130C>G	XP_011510037.1:p.Ala377Gly
XM_011511736.1:c.1052C>G	XP_011510038.1:p.Ala351Gly
XM_011511737.1:c.1130C>G	XP_011510039.1:p.Ala377Gly
XM_011511742.1:c.1267C>G	XP_011510044.1:p.Leu423Val
XM_011511743.1:c.1267C>G	XP_011510045.1:p.Leu423Val
XM_011511744.1:c.1267C>G	XP_011510046.1:p.Leu423Val
XM_011511745.1:c.1130C>G	XP_011510047.1:p.Ala377Gly
XM_011511748.1:c.1201C>G	XP_011510050.1:p.Leu401Val
XM_011511749.1:c.1179+1006C>G	XP_011510051.1:n.1179+1006C>G
XM_011511750.1:c.1130C>G	XP_011510052.1:p.Ala377Gly
XM_011511751.1:c.1212+721C>G	XP_011510053.1:n.1212+721C>G
XM_011511753.1:c.1075+1006C>G	XP_011510055.1:n.1075+1006C>G
XM_011511754.1:c.569C>G	XP_011510056.1:p.Ala190Gly
XM_011511755.1:c.560C>G	XP_011510057.1:p.Ala187Gly
XM_011511756.1:c.853+6423C>G	XP_011510058.1:n.853+6423C>G
XM_011511757.1:c.*68C>G	XP_011510059.1:n.*68C>G
XR_241434.3:n.1391C>G
XR_923003.1:n.1913C>G
XR_923004.1:n.1684C>G
XR_923005.1:n.1427C>G
XR_923006.1:n.1427C>G
XR_923007.1:n.1394C>G
XR_923008.1:n.1290C>G
XR_923009.1:n.1290C>G
XR_923010.1:n.1724C>G
XR_923011.1:n.1495C>G
XR_923012.1:n.1429C>G
XR_923014.1:n.1014-4549C>G
NM_001352824.1:c.491C>G	NP_001339753.1:p.Ala164Gly
XM_011511734.2:c.1130C>G	XP_011510036.1:p.Ala377Gly
XM_011511735.2:c.1130C>G	XP_011510037.1:p.Ala377Gly
XM_011511736.2:c.1052C>G	XP_011510038.1:p.Ala351Gly
XM_011511737.3:c.1130C>G	XP_011510039.1:p.Ala377Gly
XM_011511743.2:c.1267C>G	XP_011510045.1:p.Leu423Val
XM_011511744.2:c.1267C>G	XP_011510046.1:p.Leu423Val
XM_011511745.3:c.1130C>G	XP_011510047.1:p.Ala377Gly
XM_011511749.3:c.1179+1006C>G	XP_011510051.1:n.1179+1006C>G
XM_011511750.3:c.1130C>G	XP_011510052.1:p.Ala377Gly
XM_011511751.2:c.1212+721C>G	XP_011510053.1:n.1212+721C>G
XM_011511753.3:c.1075+1006C>G	XP_011510055.1:n.1075+1006C>G
XM_011511756.2:c.853+6423C>G	XP_011510058.1:n.853+6423C>G
XM_011511757.3:c.*68C>G	XP_011510059.1:n.*68C>G
XM_017004828.2:c.1052C>G	XP_016860317.1:p.Ala351Gly
XM_017004829.2:c.1267C>G	XP_016860318.1:p.Leu423Val
XM_017004830.2:c.1130C>G	XP_016860319.1:p.Ala377Gly
XM_024453102.1:c.902C>G	XP_024308870.1:p.Ala301Gly
XR_001738918.2:n.1426C>G
XR_001738919.2:n.1360C>G
XR_002959334.1:n.1912C>G
XR_002959335.1:n.1556C>G
XR_241434.4:n.1390C>G
XR_923004.3:n.1683C>G
XR_923005.2:n.1426C>G
XR_923007.3:n.1393C>G
XR_923009.2:n.1289C>G
XR_923010.2:n.1723C>G
XR_923011.3:n.1494C>G
XR_923012.2:n.1428C>G
XR_923014.3:n.1013-4549C>G
NM_152783.5:c.1052C>G MANE Select	NP_689996.4:p.Ala351Gly
NM_001287249.2:c.650C>G	NP_001274178.1:p.Ala217Gly
NM_001352824.2:c.491C>G	NP_001339753.1:p.Ala164Gly
NR_109778.2:n.1012-4549C>G