Canonical Allele Identifier: CA2222200

Gene: D2HGDH

Linked Data

• dbSNP Id: rs780752571
• ExAC: 2:242707128 A / G
• gnomAD v2: 2-242707128-A-G
• gnomAD v3: 2-241767713-A-G
• gnomAD v4: 2-241767713-A-G
• MyVariant Identifiers: chr2:g.242707128A>G (hg19) ; chr2:g.241767713A>G (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767713A>G , CM000664.2:g.241767713A>G	GRCh38
NC_000002.11:g.242707128A>G , CM000664.1:g.242707128A>G	GRCh37
NC_000002.10:g.242355801A>G	NCBI36
NG_012012.1:g.38099A>G

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1310A>G MANE Select	ENSP00000315351.4:p.Asp437Gly
ENST00000321264.8:c.1310A>G	ENSP00000315351.4:p.Asp437Gly
ENST00000400769.6:c.*60A>G	ENSP00000383580.2:n.*60A>G
ENST00000403782.5:c.908A>G	ENSP00000384723.1:p.Asp303Gly
ENST00000436747.5:c.*2546A>G	ENSP00000400212.1:n.*2546A>G
ENST00000445308.1:c.706A>G
ENST00000468064.5:n.1200A>G
ENST00000470343.5:n.791A>G
ENST00000473126.1:n.509A>G
ENST00000486953.5:n.1134A>G
ENST00000610344.1:c.*154A>G	ENSP00000481906.1:n.*154A>G
NM_001287249.1:c.908A>G	NP_001274178.1:p.Asp303Gly
NM_152783.4:c.1310A>G	NP_689996.4:p.Asp437Gly
NR_109778.1:n.1232A>G
XM_011511734.1:c.1430A>G	XP_011510036.1:p.Asp477Gly
XM_011511735.1:c.1388A>G	XP_011510037.1:p.Asp463Gly
XM_011511736.1:c.1352A>G	XP_011510038.1:p.Asp451Gly
XM_011511744.1:c.*42A>G	XP_011510046.1:n.*42A>G
XM_011511750.1:c.1222A>G	XP_011510052.1:p.Met408Val
XM_011511754.1:c.869A>G	XP_011510056.1:p.Asp290Gly
XM_011511755.1:c.860A>G	XP_011510057.1:p.Asp287Gly
XM_011511756.1:c.857A>G	XP_011510058.1:p.Asp286Gly
XR_923004.1:n.1942A>G
XR_923007.1:n.1652A>G
XR_923011.1:n.1753A>G
NM_001352824.1:c.749A>G	NP_001339753.1:p.Asp250Gly
XM_011511734.2:c.1430A>G	XP_011510036.1:p.Asp477Gly
XM_011511735.2:c.1388A>G	XP_011510037.1:p.Asp463Gly
XM_011511736.2:c.1352A>G	XP_011510038.1:p.Asp451Gly
XM_011511744.2:c.*42A>G	XP_011510046.1:n.*42A>G
XM_011511750.3:c.1222A>G	XP_011510052.1:p.Met408Val
XM_011511756.2:c.857A>G	XP_011510058.1:p.Asp286Gly
XM_024453102.1:c.1202A>G	XP_024308870.1:p.Asp401Gly
XR_001738918.2:n.1684A>G
XR_001738919.2:n.1618A>G
XR_923004.3:n.1941A>G
XR_923007.3:n.1651A>G
XR_923011.3:n.1752A>G
NM_152783.5:c.1310A>G MANE Select	NP_689996.4:p.Asp437Gly
NM_001287249.2:c.908A>G	NP_001274178.1:p.Asp303Gly
NM_001352824.2:c.749A>G	NP_001339753.1:p.Asp250Gly
NR_109778.2:n.1181A>G