Canonical Allele Identifier: CA351413095

Gene: D2HGDH

Linked Data

• COSMIC: COSM5502654
• MyVariant Identifiers: chr2:g.242707194C>T (hg19) ; chr2:g.241767779C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767779C>T , CM000664.2:g.241767779C>T	GRCh38
NC_000002.11:g.242707194C>T , CM000664.1:g.242707194C>T	GRCh37
NC_000002.10:g.242355867C>T	NCBI36
NG_012012.1:g.38165C>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1376C>T MANE Select	ENSP00000315351.4:p.Pro459Leu
ENST00000321264.8:c.1376C>T	ENSP00000315351.4:p.Pro459Leu
ENST00000400769.6:c.*126C>T	ENSP00000383580.2:n.*126C>T
ENST00000403782.5:c.974C>T	ENSP00000384723.1:p.Pro325Leu
ENST00000436747.5:c.*2612C>T	ENSP00000400212.1:n.*2612C>T
ENST00000445308.1:c.772C>T
ENST00000468064.5:n.1266C>T
ENST00000470343.5:n.857C>T
ENST00000473126.1:n.575C>T
ENST00000486953.5:n.1200C>T
ENST00000610344.1:c.*220C>T	ENSP00000481906.1:n.*220C>T
NM_001287249.1:c.974C>T	NP_001274178.1:p.Pro325Leu
NM_152783.4:c.1376C>T	NP_689996.4:p.Pro459Leu
NR_109778.1:n.1298C>T
XM_011511734.1:c.1496C>T	XP_011510036.1:p.Pro499Leu
XM_011511735.1:c.1454C>T	XP_011510037.1:p.Pro485Leu
XM_011511736.1:c.1418C>T	XP_011510038.1:p.Pro473Leu
XM_011511744.1:c.*108C>T	XP_011510046.1:n.*108C>T
XM_011511750.1:c.*43C>T	XP_011510052.1:n.*43C>T
XM_011511754.1:c.935C>T	XP_011510056.1:p.Pro312Leu
XM_011511755.1:c.926C>T	XP_011510057.1:p.Pro309Leu
XM_011511756.1:c.923C>T	XP_011510058.1:p.Pro308Leu
XR_923004.1:n.2008C>T
XR_923007.1:n.1718C>T
XR_923011.1:n.1819C>T
NM_001352824.1:c.815C>T	NP_001339753.1:p.Pro272Leu
XM_011511734.2:c.1496C>T	XP_011510036.1:p.Pro499Leu
XM_011511735.2:c.1454C>T	XP_011510037.1:p.Pro485Leu
XM_011511736.2:c.1418C>T	XP_011510038.1:p.Pro473Leu
XM_011511744.2:c.*108C>T	XP_011510046.1:n.*108C>T
XM_011511750.3:c.*43C>T	XP_011510052.1:n.*43C>T
XM_011511756.2:c.923C>T	XP_011510058.1:p.Pro308Leu
XM_024453102.1:c.1268C>T	XP_024308870.1:p.Pro423Leu
XR_001738918.2:n.1750C>T
XR_001738919.2:n.1684C>T
XR_923004.3:n.2007C>T
XR_923007.3:n.1717C>T
XR_923011.3:n.1818C>T
NM_152783.5:c.1376C>T MANE Select	NP_689996.4:p.Pro459Leu
NM_001287249.2:c.974C>T	NP_001274178.1:p.Pro325Leu
NM_001352824.2:c.815C>T	NP_001339753.1:p.Pro272Leu
NR_109778.2:n.1247C>T