Canonical Allele Identifier: CA351413058

Gene: D2HGDH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1357C>G MANE Select	ENSP00000315351.4:p.Leu453Val
ENST00000321264.8:c.1357C>G	ENSP00000315351.4:p.Leu453Val
ENST00000400769.6:c.*107C>G	ENSP00000383580.2:n.*107C>G
ENST00000403782.5:c.955C>G	ENSP00000384723.1:p.Leu319Val
ENST00000436747.5:c.*2593C>G	ENSP00000400212.1:n.*2593C>G
ENST00000445308.1:c.753C>G
ENST00000468064.5:n.1247C>G
ENST00000470343.5:n.838C>G
ENST00000473126.1:n.556C>G
ENST00000486953.5:n.1181C>G
ENST00000610344.1:c.*201C>G	ENSP00000481906.1:n.*201C>G
NM_001287249.1:c.955C>G	NP_001274178.1:p.Leu319Val
NM_152783.4:c.1357C>G	NP_689996.4:p.Leu453Val
NR_109778.1:n.1279C>G
XM_011511734.1:c.1477C>G	XP_011510036.1:p.Leu493Val
XM_011511735.1:c.1435C>G	XP_011510037.1:p.Leu479Val
XM_011511736.1:c.1399C>G	XP_011510038.1:p.Leu467Val
XM_011511744.1:c.*89C>G	XP_011510046.1:n.*89C>G
XM_011511750.1:c.*24C>G	XP_011510052.1:n.*24C>G
XM_011511754.1:c.916C>G	XP_011510056.1:p.Leu306Val
XM_011511755.1:c.907C>G	XP_011510057.1:p.Leu303Val
XM_011511756.1:c.904C>G	XP_011510058.1:p.Leu302Val
XR_923004.1:n.1989C>G
XR_923007.1:n.1699C>G
XR_923011.1:n.1800C>G
NM_001352824.1:c.796C>G	NP_001339753.1:p.Leu266Val
XM_011511734.2:c.1477C>G	XP_011510036.1:p.Leu493Val
XM_011511735.2:c.1435C>G	XP_011510037.1:p.Leu479Val
XM_011511736.2:c.1399C>G	XP_011510038.1:p.Leu467Val
XM_011511744.2:c.*89C>G	XP_011510046.1:n.*89C>G
XM_011511750.3:c.*24C>G	XP_011510052.1:n.*24C>G
XM_011511756.2:c.904C>G	XP_011510058.1:p.Leu302Val
XM_024453102.1:c.1249C>G	XP_024308870.1:p.Leu417Val
XR_001738918.2:n.1731C>G
XR_001738919.2:n.1665C>G
XR_923004.3:n.1988C>G
XR_923007.3:n.1698C>G
XR_923011.3:n.1799C>G
NM_152783.5:c.1357C>G MANE Select	NP_689996.4:p.Leu453Val
NM_001287249.2:c.955C>G	NP_001274178.1:p.Leu319Val
NM_001352824.2:c.796C>G	NP_001339753.1:p.Leu266Val
NR_109778.2:n.1228C>G