Canonical Allele Identifier: CA351413797

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1224100129
• gnomAD v2: 2-242707322-A-G
• gnomAD v4: 2-241767907-A-G
• MyVariant Identifiers: chr2:g.242707322A>G (hg19) ; chr2:g.241767907A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767907A>G , CM000664.2:g.241767907A>G	GRCh38
NC_000002.11:g.242707322A>G , CM000664.1:g.242707322A>G	GRCh37
NC_000002.10:g.242355995A>G	NCBI36
NG_012012.1:g.38293A>G

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1504A>G MANE Select	ENSP00000315351.4:p.Lys502Glu
ENST00000321264.8:c.1504A>G	ENSP00000315351.4:p.Lys502Glu
ENST00000400769.6:c.*254A>G	ENSP00000383580.2:n.*254A>G
ENST00000403782.5:c.1102A>G	ENSP00000384723.1:p.Lys368Glu
ENST00000436747.5:c.*2740A>G	ENSP00000400212.1:n.*2740A>G
ENST00000445308.1:c.900A>G
ENST00000468064.5:n.1394A>G
ENST00000470343.5:n.985A>G
ENST00000473126.1:n.703A>G
ENST00000486953.5:n.1328A>G
ENST00000610344.1:c.*348A>G	ENSP00000481906.1:n.*348A>G
NM_001287249.1:c.1102A>G	NP_001274178.1:p.Lys368Glu
NM_152783.4:c.1504A>G	NP_689996.4:p.Lys502Glu
NR_109778.1:n.1426A>G
XM_011511734.1:c.1624A>G	XP_011510036.1:p.Lys542Glu
XM_011511735.1:c.1582A>G	XP_011510037.1:p.Lys528Glu
XM_011511736.1:c.1546A>G	XP_011510038.1:p.Lys516Glu
XM_011511754.1:c.1063A>G	XP_011510056.1:p.Lys355Glu
XM_011511755.1:c.1054A>G	XP_011510057.1:p.Lys352Glu
XM_011511756.1:c.1051A>G	XP_011510058.1:p.Lys351Glu
XR_923004.1:n.2136A>G
XR_923007.1:n.1846A>G
XR_923011.1:n.1947A>G
NM_001352824.1:c.943A>G	NP_001339753.1:p.Lys315Glu
XM_011511734.2:c.1624A>G	XP_011510036.1:p.Lys542Glu
XM_011511735.2:c.1582A>G	XP_011510037.1:p.Lys528Glu
XM_011511736.2:c.1546A>G	XP_011510038.1:p.Lys516Glu
XM_011511756.2:c.1051A>G	XP_011510058.1:p.Lys351Glu
XM_024453102.1:c.1396A>G	XP_024308870.1:p.Lys466Glu
XR_001738918.2:n.1878A>G
XR_001738919.2:n.1812A>G
XR_923004.3:n.2135A>G
XR_923007.3:n.1845A>G
XR_923011.3:n.1946A>G
NM_152783.5:c.1504A>G MANE Select	NP_689996.4:p.Lys502Glu
NM_001287249.2:c.1102A>G	NP_001274178.1:p.Lys368Glu
NM_001352824.2:c.943A>G	NP_001339753.1:p.Lys315Glu
NR_109778.2:n.1375A>G