Canonical Allele Identifier: CA351413039

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1429077618
• gnomAD v2: 2-242707165-C-G
• gnomAD v4: 2-241767750-C-G
• MyVariant Identifiers: chr2:g.242707165C>G (hg19) ; chr2:g.241767750C>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767750C>G , CM000664.2:g.241767750C>G	GRCh38
NC_000002.11:g.242707165C>G , CM000664.1:g.242707165C>G	GRCh37
NC_000002.10:g.242355838C>G	NCBI36
NG_012012.1:g.38136C>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1347C>G MANE Select	ENSP00000315351.4:p.Phe449Leu
ENST00000321264.8:c.1347C>G	ENSP00000315351.4:p.Phe449Leu
ENST00000400769.6:c.*97C>G	ENSP00000383580.2:n.*97C>G
ENST00000403782.5:c.945C>G	ENSP00000384723.1:p.Phe315Leu
ENST00000436747.5:c.*2583C>G	ENSP00000400212.1:n.*2583C>G
ENST00000445308.1:c.743C>G
ENST00000468064.5:n.1237C>G
ENST00000470343.5:n.828C>G
ENST00000473126.1:n.546C>G
ENST00000486953.5:n.1171C>G
ENST00000610344.1:c.*191C>G	ENSP00000481906.1:n.*191C>G
NM_001287249.1:c.945C>G	NP_001274178.1:p.Phe315Leu
NM_152783.4:c.1347C>G	NP_689996.4:p.Phe449Leu
NR_109778.1:n.1269C>G
XM_011511734.1:c.1467C>G	XP_011510036.1:p.Phe489Leu
XM_011511735.1:c.1425C>G	XP_011510037.1:p.Phe475Leu
XM_011511736.1:c.1389C>G	XP_011510038.1:p.Phe463Leu
XM_011511744.1:c.*79C>G	XP_011510046.1:n.*79C>G
XM_011511750.1:c.*14C>G	XP_011510052.1:n.*14C>G
XM_011511754.1:c.906C>G	XP_011510056.1:p.Phe302Leu
XM_011511755.1:c.897C>G	XP_011510057.1:p.Phe299Leu
XM_011511756.1:c.894C>G	XP_011510058.1:p.Phe298Leu
XR_923004.1:n.1979C>G
XR_923007.1:n.1689C>G
XR_923011.1:n.1790C>G
NM_001352824.1:c.786C>G	NP_001339753.1:p.Phe262Leu
XM_011511734.2:c.1467C>G	XP_011510036.1:p.Phe489Leu
XM_011511735.2:c.1425C>G	XP_011510037.1:p.Phe475Leu
XM_011511736.2:c.1389C>G	XP_011510038.1:p.Phe463Leu
XM_011511744.2:c.*79C>G	XP_011510046.1:n.*79C>G
XM_011511750.3:c.*14C>G	XP_011510052.1:n.*14C>G
XM_011511756.2:c.894C>G	XP_011510058.1:p.Phe298Leu
XM_024453102.1:c.1239C>G	XP_024308870.1:p.Phe413Leu
XR_001738918.2:n.1721C>G
XR_001738919.2:n.1655C>G
XR_923004.3:n.1978C>G
XR_923007.3:n.1688C>G
XR_923011.3:n.1789C>G
NM_152783.5:c.1347C>G MANE Select	NP_689996.4:p.Phe449Leu
NM_001287249.2:c.945C>G	NP_001274178.1:p.Phe315Leu
NM_001352824.2:c.786C>G	NP_001339753.1:p.Phe262Leu
NR_109778.2:n.1218C>G