Canonical Allele Identifier: CA432092668

Gene: D2HGDH

Linked Data

• ClinVar Variation Id: 2427965
• ClinVar RCV Id: RCV003116936
• dbSNP Id: rs1402945385
• gnomAD v4: 2-241751286-C-T
• MyVariant Identifiers: chr2:g.242690701C>T (hg19) ; chr2:g.241751286C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751286C>T , CM000664.2:g.241751286C>T	GRCh38
NC_000002.11:g.242690701C>T , CM000664.1:g.242690701C>T	GRCh37
NC_000002.10:g.242339374C>T	NCBI36
NG_012012.1:g.21672C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1038C>T MANE Select	ENSP00000315351.4:p.Asn346=
ENST00000321264.8:c.1038C>T	ENSP00000315351.4:p.Asn346=
ENST00000400769.6:c.854-4563C>T	ENSP00000383580.2:n.854-4563C>T
ENST00000403782.5:c.636C>T	ENSP00000384723.1:p.Asn212=
ENST00000432449.1:c.298C>T
ENST00000436747.5:c.*1354C>T	ENSP00000400212.1:n.*1354C>T
ENST00000454048.1:c.141C>T	ENSP00000404596.1:p.Asn47=
ENST00000467427.5:n.389+992C>T
ENST00000470343.5:n.519C>T
ENST00000473126.1:n.237C>T
ENST00000486953.5:n.163+992C>T
ENST00000496252.5:n.393C>T
NM_001287249.1:c.636C>T	NP_001274178.1:p.Asn212=
NM_152783.4:c.1038C>T	NP_689996.4:p.Asn346=
NR_109778.1:n.1063-4563C>T
XM_011511734.1:c.1116C>T	XP_011510036.1:p.Asn372=
XM_011511735.1:c.1116C>T	XP_011510037.1:p.Asn372=
XM_011511736.1:c.1038C>T	XP_011510038.1:p.Asn346=
XM_011511737.1:c.1116C>T	XP_011510039.1:p.Asn372=
XM_011511742.1:c.1253C>T	XP_011510044.1:p.Thr418Met
XM_011511743.1:c.1253C>T	XP_011510045.1:p.Thr418Met
XM_011511744.1:c.1253C>T	XP_011510046.1:p.Thr418Met
XM_011511745.1:c.1116C>T	XP_011510047.1:p.Asn372=
XM_011511748.1:c.1187C>T	XP_011510050.1:p.Thr396Met
XM_011511749.1:c.1179+992C>T	XP_011510051.1:n.1179+992C>T
XM_011511750.1:c.1116C>T	XP_011510052.1:p.Asn372=
XM_011511751.1:c.1212+707C>T	XP_011510053.1:n.1212+707C>T
XM_011511753.1:c.1075+992C>T	XP_011510055.1:n.1075+992C>T
XM_011511754.1:c.555C>T	XP_011510056.1:p.Asn185=
XM_011511755.1:c.546C>T	XP_011510057.1:p.Asn182=
XM_011511756.1:c.853+6409C>T	XP_011510058.1:n.853+6409C>T
XM_011511757.1:c.*54C>T	XP_011510059.1:n.*54C>T
XR_241434.3:n.1377C>T
XR_923003.1:n.1899C>T
XR_923004.1:n.1670C>T
XR_923005.1:n.1413C>T
XR_923006.1:n.1413C>T
XR_923007.1:n.1380C>T
XR_923008.1:n.1276C>T
XR_923009.1:n.1276C>T
XR_923010.1:n.1710C>T
XR_923011.1:n.1481C>T
XR_923012.1:n.1415C>T
XR_923014.1:n.1014-4563C>T
NM_001352824.1:c.477C>T	NP_001339753.1:p.Asn159=
XM_011511734.2:c.1116C>T	XP_011510036.1:p.Asn372=
XM_011511735.2:c.1116C>T	XP_011510037.1:p.Asn372=
XM_011511736.2:c.1038C>T	XP_011510038.1:p.Asn346=
XM_011511737.3:c.1116C>T	XP_011510039.1:p.Asn372=
XM_011511743.2:c.1253C>T	XP_011510045.1:p.Thr418Met
XM_011511744.2:c.1253C>T	XP_011510046.1:p.Thr418Met
XM_011511745.3:c.1116C>T	XP_011510047.1:p.Asn372=
XM_011511749.3:c.1179+992C>T	XP_011510051.1:n.1179+992C>T
XM_011511750.3:c.1116C>T	XP_011510052.1:p.Asn372=
XM_011511751.2:c.1212+707C>T	XP_011510053.1:n.1212+707C>T
XM_011511753.3:c.1075+992C>T	XP_011510055.1:n.1075+992C>T
XM_011511756.2:c.853+6409C>T	XP_011510058.1:n.853+6409C>T
XM_011511757.3:c.*54C>T	XP_011510059.1:n.*54C>T
XM_017004828.2:c.1038C>T	XP_016860317.1:p.Asn346=
XM_017004829.2:c.1253C>T	XP_016860318.1:p.Thr418Met
XM_017004830.2:c.1116C>T	XP_016860319.1:p.Asn372=
XM_024453102.1:c.888C>T	XP_024308870.1:p.Asn296=
XR_001738918.2:n.1412C>T
XR_001738919.2:n.1346C>T
XR_002959334.1:n.1898C>T
XR_002959335.1:n.1542C>T
XR_241434.4:n.1376C>T
XR_923004.3:n.1669C>T
XR_923005.2:n.1412C>T
XR_923007.3:n.1379C>T
XR_923009.2:n.1275C>T
XR_923010.2:n.1709C>T
XR_923011.3:n.1480C>T
XR_923012.2:n.1414C>T
XR_923014.3:n.1013-4563C>T
NM_152783.5:c.1038C>T MANE Select	NP_689996.4:p.Asn346=
NM_001287249.2:c.636C>T	NP_001274178.1:p.Asn212=
NM_001352824.2:c.477C>T	NP_001339753.1:p.Asn159=
NR_109778.2:n.1012-4563C>T