Canonical Allele Identifier: CA351413057

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707175C>A (hg19) ; chr2:g.241767760C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767760C>A , CM000664.2:g.241767760C>A	GRCh38
NC_000002.11:g.242707175C>A , CM000664.1:g.242707175C>A	GRCh37
NC_000002.10:g.242355848C>A	NCBI36
NG_012012.1:g.38146C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1357C>A MANE Select	ENSP00000315351.4:p.Leu453Ile
ENST00000321264.8:c.1357C>A	ENSP00000315351.4:p.Leu453Ile
ENST00000400769.6:c.*107C>A	ENSP00000383580.2:n.*107C>A
ENST00000403782.5:c.955C>A	ENSP00000384723.1:p.Leu319Ile
ENST00000436747.5:c.*2593C>A	ENSP00000400212.1:n.*2593C>A
ENST00000445308.1:c.753C>A
ENST00000468064.5:n.1247C>A
ENST00000470343.5:n.838C>A
ENST00000473126.1:n.556C>A
ENST00000486953.5:n.1181C>A
ENST00000610344.1:c.*201C>A	ENSP00000481906.1:n.*201C>A
NM_001287249.1:c.955C>A	NP_001274178.1:p.Leu319Ile
NM_152783.4:c.1357C>A	NP_689996.4:p.Leu453Ile
NR_109778.1:n.1279C>A
XM_011511734.1:c.1477C>A	XP_011510036.1:p.Leu493Ile
XM_011511735.1:c.1435C>A	XP_011510037.1:p.Leu479Ile
XM_011511736.1:c.1399C>A	XP_011510038.1:p.Leu467Ile
XM_011511744.1:c.*89C>A	XP_011510046.1:n.*89C>A
XM_011511750.1:c.*24C>A	XP_011510052.1:n.*24C>A
XM_011511754.1:c.916C>A	XP_011510056.1:p.Leu306Ile
XM_011511755.1:c.907C>A	XP_011510057.1:p.Leu303Ile
XM_011511756.1:c.904C>A	XP_011510058.1:p.Leu302Ile
XR_923004.1:n.1989C>A
XR_923007.1:n.1699C>A
XR_923011.1:n.1800C>A
NM_001352824.1:c.796C>A	NP_001339753.1:p.Leu266Ile
XM_011511734.2:c.1477C>A	XP_011510036.1:p.Leu493Ile
XM_011511735.2:c.1435C>A	XP_011510037.1:p.Leu479Ile
XM_011511736.2:c.1399C>A	XP_011510038.1:p.Leu467Ile
XM_011511744.2:c.*89C>A	XP_011510046.1:n.*89C>A
XM_011511750.3:c.*24C>A	XP_011510052.1:n.*24C>A
XM_011511756.2:c.904C>A	XP_011510058.1:p.Leu302Ile
XM_024453102.1:c.1249C>A	XP_024308870.1:p.Leu417Ile
XR_001738918.2:n.1731C>A
XR_001738919.2:n.1665C>A
XR_923004.3:n.1988C>A
XR_923007.3:n.1698C>A
XR_923011.3:n.1799C>A
NM_152783.5:c.1357C>A MANE Select	NP_689996.4:p.Leu453Ile
NM_001287249.2:c.955C>A	NP_001274178.1:p.Leu319Ile
NM_001352824.2:c.796C>A	NP_001339753.1:p.Leu266Ile
NR_109778.2:n.1228C>A