Canonical Allele Identifier: CA351413084

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241767775-G-C
• COSMIC: COSM6010770
• MyVariant Identifiers: chr2:g.242707190G>C (hg19) ; chr2:g.241767775G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767775G>C , CM000664.2:g.241767775G>C	GRCh38
NC_000002.11:g.242707190G>C , CM000664.1:g.242707190G>C	GRCh37
NC_000002.10:g.242355863G>C	NCBI36
NG_012012.1:g.38161G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1372G>C MANE Select	ENSP00000315351.4:p.Glu458Gln
ENST00000321264.8:c.1372G>C	ENSP00000315351.4:p.Glu458Gln
ENST00000400769.6:c.*122G>C	ENSP00000383580.2:n.*122G>C
ENST00000403782.5:c.970G>C	ENSP00000384723.1:p.Glu324Gln
ENST00000436747.5:c.*2608G>C	ENSP00000400212.1:n.*2608G>C
ENST00000445308.1:c.768G>C
ENST00000468064.5:n.1262G>C
ENST00000470343.5:n.853G>C
ENST00000473126.1:n.571G>C
ENST00000486953.5:n.1196G>C
ENST00000610344.1:c.*216G>C	ENSP00000481906.1:n.*216G>C
NM_001287249.1:c.970G>C	NP_001274178.1:p.Glu324Gln
NM_152783.4:c.1372G>C	NP_689996.4:p.Glu458Gln
NR_109778.1:n.1294G>C
XM_011511734.1:c.1492G>C	XP_011510036.1:p.Glu498Gln
XM_011511735.1:c.1450G>C	XP_011510037.1:p.Glu484Gln
XM_011511736.1:c.1414G>C	XP_011510038.1:p.Glu472Gln
XM_011511744.1:c.*104G>C	XP_011510046.1:n.*104G>C
XM_011511750.1:c.*39G>C	XP_011510052.1:n.*39G>C
XM_011511754.1:c.931G>C	XP_011510056.1:p.Glu311Gln
XM_011511755.1:c.922G>C	XP_011510057.1:p.Glu308Gln
XM_011511756.1:c.919G>C	XP_011510058.1:p.Glu307Gln
XR_923004.1:n.2004G>C
XR_923007.1:n.1714G>C
XR_923011.1:n.1815G>C
NM_001352824.1:c.811G>C	NP_001339753.1:p.Glu271Gln
XM_011511734.2:c.1492G>C	XP_011510036.1:p.Glu498Gln
XM_011511735.2:c.1450G>C	XP_011510037.1:p.Glu484Gln
XM_011511736.2:c.1414G>C	XP_011510038.1:p.Glu472Gln
XM_011511744.2:c.*104G>C	XP_011510046.1:n.*104G>C
XM_011511750.3:c.*39G>C	XP_011510052.1:n.*39G>C
XM_011511756.2:c.919G>C	XP_011510058.1:p.Glu307Gln
XM_024453102.1:c.1264G>C	XP_024308870.1:p.Glu422Gln
XR_001738918.2:n.1746G>C
XR_001738919.2:n.1680G>C
XR_923004.3:n.2003G>C
XR_923007.3:n.1713G>C
XR_923011.3:n.1814G>C
NM_152783.5:c.1372G>C MANE Select	NP_689996.4:p.Glu458Gln
NM_001287249.2:c.970G>C	NP_001274178.1:p.Glu324Gln
NM_001352824.2:c.811G>C	NP_001339753.1:p.Glu271Gln
NR_109778.2:n.1243G>C