Canonical Allele Identifier: CA351412922

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1699268723
• gnomAD v3: 2-241767722-T-C
• gnomAD v4: 2-241767722-T-C
• MyVariant Identifiers: chr2:g.242707137T>C (hg19) ; chr2:g.241767722T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767722T>C , CM000664.2:g.241767722T>C	GRCh38
NC_000002.11:g.242707137T>C , CM000664.1:g.242707137T>C	GRCh37
NC_000002.10:g.242355810T>C	NCBI36
NG_012012.1:g.38108T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1319T>C MANE Select	ENSP00000315351.4:p.Leu440Pro
ENST00000321264.8:c.1319T>C	ENSP00000315351.4:p.Leu440Pro
ENST00000400769.6:c.*69T>C	ENSP00000383580.2:n.*69T>C
ENST00000403782.5:c.917T>C	ENSP00000384723.1:p.Leu306Pro
ENST00000436747.5:c.*2555T>C	ENSP00000400212.1:n.*2555T>C
ENST00000445308.1:c.715T>C
ENST00000468064.5:n.1209T>C
ENST00000470343.5:n.800T>C
ENST00000473126.1:n.518T>C
ENST00000486953.5:n.1143T>C
ENST00000610344.1:c.*163T>C	ENSP00000481906.1:n.*163T>C
NM_001287249.1:c.917T>C	NP_001274178.1:p.Leu306Pro
NM_152783.4:c.1319T>C	NP_689996.4:p.Leu440Pro
NR_109778.1:n.1241T>C
XM_011511734.1:c.1439T>C	XP_011510036.1:p.Leu480Pro
XM_011511735.1:c.1397T>C	XP_011510037.1:p.Leu466Pro
XM_011511736.1:c.1361T>C	XP_011510038.1:p.Leu454Pro
XM_011511744.1:c.*51T>C	XP_011510046.1:n.*51T>C
XM_011511750.1:c.1231T>C	XP_011510052.1:p.Cys411Arg
XM_011511754.1:c.878T>C	XP_011510056.1:p.Leu293Pro
XM_011511755.1:c.869T>C	XP_011510057.1:p.Leu290Pro
XM_011511756.1:c.866T>C	XP_011510058.1:p.Leu289Pro
XR_923004.1:n.1951T>C
XR_923007.1:n.1661T>C
XR_923011.1:n.1762T>C
NM_001352824.1:c.758T>C	NP_001339753.1:p.Leu253Pro
XM_011511734.2:c.1439T>C	XP_011510036.1:p.Leu480Pro
XM_011511735.2:c.1397T>C	XP_011510037.1:p.Leu466Pro
XM_011511736.2:c.1361T>C	XP_011510038.1:p.Leu454Pro
XM_011511744.2:c.*51T>C	XP_011510046.1:n.*51T>C
XM_011511750.3:c.1231T>C	XP_011510052.1:p.Cys411Arg
XM_011511756.2:c.866T>C	XP_011510058.1:p.Leu289Pro
XM_024453102.1:c.1211T>C	XP_024308870.1:p.Leu404Pro
XR_001738918.2:n.1693T>C
XR_001738919.2:n.1627T>C
XR_923004.3:n.1950T>C
XR_923007.3:n.1660T>C
XR_923011.3:n.1761T>C
NM_152783.5:c.1319T>C MANE Select	NP_689996.4:p.Leu440Pro
NM_001287249.2:c.917T>C	NP_001274178.1:p.Leu306Pro
NM_001352824.2:c.758T>C	NP_001339753.1:p.Leu253Pro
NR_109778.2:n.1190T>C