Canonical Allele Identifier: CA351408656

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242690688C>T (hg19) ; chr2:g.241751273C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241751273C>T , CM000664.2:g.241751273C>T	GRCh38
NC_000002.11:g.242690688C>T , CM000664.1:g.242690688C>T	GRCh37
NC_000002.10:g.242339361C>T	NCBI36
NG_012012.1:g.21659C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1025C>T MANE Select	ENSP00000315351.4:p.Thr342Ile
ENST00000321264.8:c.1025C>T	ENSP00000315351.4:p.Thr342Ile
ENST00000400769.6:c.854-4576C>T	ENSP00000383580.2:n.854-4576C>T
ENST00000403782.5:c.623C>T	ENSP00000384723.1:p.Thr208Ile
ENST00000432449.1:c.285C>T
ENST00000436747.5:c.*1341C>T	ENSP00000400212.1:n.*1341C>T
ENST00000454048.1:c.128C>T	ENSP00000404596.1:p.Thr43Ile
ENST00000467427.5:n.389+979C>T
ENST00000470343.5:n.506C>T
ENST00000473126.1:n.224C>T
ENST00000486953.5:n.163+979C>T
ENST00000496252.5:n.380C>T
NM_001287249.1:c.623C>T	NP_001274178.1:p.Thr208Ile
NM_152783.4:c.1025C>T	NP_689996.4:p.Thr342Ile
NR_109778.1:n.1063-4576C>T
XM_011511734.1:c.1103C>T	XP_011510036.1:p.Thr368Ile
XM_011511735.1:c.1103C>T	XP_011510037.1:p.Thr368Ile
XM_011511736.1:c.1025C>T	XP_011510038.1:p.Thr342Ile
XM_011511737.1:c.1103C>T	XP_011510039.1:p.Thr368Ile
XM_011511742.1:c.1240C>T	XP_011510044.1:p.Leu414Phe
XM_011511743.1:c.1240C>T	XP_011510045.1:p.Leu414Phe
XM_011511744.1:c.1240C>T	XP_011510046.1:p.Leu414Phe
XM_011511745.1:c.1103C>T	XP_011510047.1:p.Thr368Ile
XM_011511748.1:c.1174C>T	XP_011510050.1:p.Leu392Phe
XM_011511749.1:c.1179+979C>T	XP_011510051.1:n.1179+979C>T
XM_011511750.1:c.1103C>T	XP_011510052.1:p.Thr368Ile
XM_011511751.1:c.1212+694C>T	XP_011510053.1:n.1212+694C>T
XM_011511753.1:c.1075+979C>T	XP_011510055.1:n.1075+979C>T
XM_011511754.1:c.542C>T	XP_011510056.1:p.Thr181Ile
XM_011511755.1:c.533C>T	XP_011510057.1:p.Thr178Ile
XM_011511756.1:c.853+6396C>T	XP_011510058.1:n.853+6396C>T
XM_011511757.1:c.*41C>T	XP_011510059.1:n.*41C>T
XR_241434.3:n.1364C>T
XR_923003.1:n.1886C>T
XR_923004.1:n.1657C>T
XR_923005.1:n.1400C>T
XR_923006.1:n.1400C>T
XR_923007.1:n.1367C>T
XR_923008.1:n.1263C>T
XR_923009.1:n.1263C>T
XR_923010.1:n.1697C>T
XR_923011.1:n.1468C>T
XR_923012.1:n.1402C>T
XR_923014.1:n.1014-4576C>T
NM_001352824.1:c.464C>T	NP_001339753.1:p.Thr155Ile
XM_011511734.2:c.1103C>T	XP_011510036.1:p.Thr368Ile
XM_011511735.2:c.1103C>T	XP_011510037.1:p.Thr368Ile
XM_011511736.2:c.1025C>T	XP_011510038.1:p.Thr342Ile
XM_011511737.3:c.1103C>T	XP_011510039.1:p.Thr368Ile
XM_011511743.2:c.1240C>T	XP_011510045.1:p.Leu414Phe
XM_011511744.2:c.1240C>T	XP_011510046.1:p.Leu414Phe
XM_011511745.3:c.1103C>T	XP_011510047.1:p.Thr368Ile
XM_011511749.3:c.1179+979C>T	XP_011510051.1:n.1179+979C>T
XM_011511750.3:c.1103C>T	XP_011510052.1:p.Thr368Ile
XM_011511751.2:c.1212+694C>T	XP_011510053.1:n.1212+694C>T
XM_011511753.3:c.1075+979C>T	XP_011510055.1:n.1075+979C>T
XM_011511756.2:c.853+6396C>T	XP_011510058.1:n.853+6396C>T
XM_011511757.3:c.*41C>T	XP_011510059.1:n.*41C>T
XM_017004828.2:c.1025C>T	XP_016860317.1:p.Thr342Ile
XM_017004829.2:c.1240C>T	XP_016860318.1:p.Leu414Phe
XM_017004830.2:c.1103C>T	XP_016860319.1:p.Thr368Ile
XM_024453102.1:c.875C>T	XP_024308870.1:p.Thr292Ile
XR_001738918.2:n.1399C>T
XR_001738919.2:n.1333C>T
XR_002959334.1:n.1885C>T
XR_002959335.1:n.1529C>T
XR_241434.4:n.1363C>T
XR_923004.3:n.1656C>T
XR_923005.2:n.1399C>T
XR_923007.3:n.1366C>T
XR_923009.2:n.1262C>T
XR_923010.2:n.1696C>T
XR_923011.3:n.1467C>T
XR_923012.2:n.1401C>T
XR_923014.3:n.1013-4576C>T
NM_152783.5:c.1025C>T MANE Select	NP_689996.4:p.Thr342Ile
NM_001287249.2:c.623C>T	NP_001274178.1:p.Thr208Ile
NM_001352824.2:c.464C>T	NP_001339753.1:p.Thr155Ile
NR_109778.2:n.1012-4576C>T