Canonical Allele Identifier: CA2664134672

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241767801-C-CGGGCAGCA

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767809_241767816dup , CM000664.2:g.241767809_241767816dup	GRCh38
NC_000002.11:g.242707224_242707231dup , CM000664.1:g.242707224_242707231dup	GRCh37
NC_000002.10:g.242355897_242355904dup	NCBI36
NG_012012.1:g.38195_38202dup

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1406_1413dup MANE Select	ENSP00000315351.4:p.Val472ArgfsTer?
ENST00000321264.8:c.1406_1413dup	ENSP00000315351.4:p.Val472ArgfsTer?
ENST00000400769.6:c.*156_*163dup	ENSP00000383580.2:n.*156_*163dup
ENST00000403782.5:c.1004_1011dup	ENSP00000384723.1:p.Val338ArgfsTer?
ENST00000436747.5:c.*2642_*2649dup	ENSP00000400212.1:n.*2642_*2649dup
ENST00000445308.1:c.802_809dup
ENST00000468064.5:n.1296_1303dup
ENST00000470343.5:n.887_894dup
ENST00000473126.1:n.605_612dup
ENST00000486953.5:n.1230_1237dup
ENST00000610344.1:c.*250_*257dup	ENSP00000481906.1:n.*250_*257dup
NM_001287249.1:c.1004_1011dup	NP_001274178.1:p.Val338ArgfsTer?
NM_152783.4:c.1406_1413dup	NP_689996.4:p.Val472ArgfsTer?
NR_109778.1:n.1328_1335dup
XM_011511734.1:c.1526_1533dup	XP_011510036.1:p.Val512ArgfsTer?
XM_011511735.1:c.1484_1491dup	XP_011510037.1:p.Val498ArgfsTer?
XM_011511736.1:c.1448_1455dup	XP_011510038.1:p.Val486ArgfsTer?
XM_011511750.1:c.*73_*80dup	XP_011510052.1:n.*73_*80dup
XM_011511754.1:c.965_972dup	XP_011510056.1:p.Val325ArgfsTer?
XM_011511755.1:c.956_963dup	XP_011510057.1:p.Val322ArgfsTer?
XM_011511756.1:c.953_960dup	XP_011510058.1:p.Val321ArgfsTer?
XR_923004.1:n.2038_2045dup
XR_923007.1:n.1748_1755dup
XR_923011.1:n.1849_1856dup
NM_001352824.1:c.845_852dup	NP_001339753.1:p.Val285ArgfsTer?
XM_011511734.2:c.1526_1533dup	XP_011510036.1:p.Val512ArgfsTer?
XM_011511735.2:c.1484_1491dup	XP_011510037.1:p.Val498ArgfsTer?
XM_011511736.2:c.1448_1455dup	XP_011510038.1:p.Val486ArgfsTer?
XM_011511750.3:c.*73_*80dup	XP_011510052.1:n.*73_*80dup
XM_011511756.2:c.953_960dup	XP_011510058.1:p.Val321ArgfsTer?
XM_024453102.1:c.1298_1305dup	XP_024308870.1:p.Val436ArgfsTer?
XR_001738918.2:n.1780_1787dup
XR_001738919.2:n.1714_1721dup
XR_923004.3:n.2037_2044dup
XR_923007.3:n.1747_1754dup
XR_923011.3:n.1848_1855dup
NM_152783.5:c.1406_1413dup MANE Select	NP_689996.4:p.Val472ArgfsTer?
NM_001287249.2:c.1004_1011dup	NP_001274178.1:p.Val338ArgfsTer?
NM_001352824.2:c.845_852dup	NP_001339753.1:p.Val285ArgfsTer?
NR_109778.2:n.1277_1284dup