Canonical Allele Identifier: CA2222209

Gene: D2HGDH

Linked Data

• dbSNP Id: rs757086957
• ExAC: 2:242707156 G / A
• gnomAD v2: 2-242707156-G-A
• gnomAD v3: 2-241767741-G-A
• gnomAD v4: 2-241767741-G-A
• MyVariant Identifiers: chr2:g.242707156G>A (hg19) ; chr2:g.241767741G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767741G>A , CM000664.2:g.241767741G>A	GRCh38
NC_000002.11:g.242707156G>A , CM000664.1:g.242707156G>A	GRCh37
NC_000002.10:g.242355829G>A	NCBI36
NG_012012.1:g.38127G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1338G>A MANE Select	ENSP00000315351.4:p.Ala446=
ENST00000321264.8:c.1338G>A	ENSP00000315351.4:p.Ala446=
ENST00000400769.6:c.*88G>A	ENSP00000383580.2:n.*88G>A
ENST00000403782.5:c.936G>A	ENSP00000384723.1:p.Ala312=
ENST00000436747.5:c.*2574G>A	ENSP00000400212.1:n.*2574G>A
ENST00000445308.1:c.734G>A
ENST00000468064.5:n.1228G>A
ENST00000470343.5:n.819G>A
ENST00000473126.1:n.537G>A
ENST00000486953.5:n.1162G>A
ENST00000610344.1:c.*182G>A	ENSP00000481906.1:n.*182G>A
NM_001287249.1:c.936G>A	NP_001274178.1:p.Ala312=
NM_152783.4:c.1338G>A	NP_689996.4:p.Ala446=
NR_109778.1:n.1260G>A
XM_011511734.1:c.1458G>A	XP_011510036.1:p.Ala486=
XM_011511735.1:c.1416G>A	XP_011510037.1:p.Ala472=
XM_011511736.1:c.1380G>A	XP_011510038.1:p.Ala460=
XM_011511744.1:c.*70G>A	XP_011510046.1:n.*70G>A
XM_011511750.1:c.*5G>A	XP_011510052.1:n.*5G>A
XM_011511754.1:c.897G>A	XP_011510056.1:p.Ala299=
XM_011511755.1:c.888G>A	XP_011510057.1:p.Ala296=
XM_011511756.1:c.885G>A	XP_011510058.1:p.Ala295=
XR_923004.1:n.1970G>A
XR_923007.1:n.1680G>A
XR_923011.1:n.1781G>A
NM_001352824.1:c.777G>A	NP_001339753.1:p.Ala259=
XM_011511734.2:c.1458G>A	XP_011510036.1:p.Ala486=
XM_011511735.2:c.1416G>A	XP_011510037.1:p.Ala472=
XM_011511736.2:c.1380G>A	XP_011510038.1:p.Ala460=
XM_011511744.2:c.*70G>A	XP_011510046.1:n.*70G>A
XM_011511750.3:c.*5G>A	XP_011510052.1:n.*5G>A
XM_011511756.2:c.885G>A	XP_011510058.1:p.Ala295=
XM_024453102.1:c.1230G>A	XP_024308870.1:p.Ala410=
XR_001738918.2:n.1712G>A
XR_001738919.2:n.1646G>A
XR_923004.3:n.1969G>A
XR_923007.3:n.1679G>A
XR_923011.3:n.1780G>A
NM_152783.5:c.1338G>A MANE Select	NP_689996.4:p.Ala446=
NM_001287249.2:c.936G>A	NP_001274178.1:p.Ala312=
NM_001352824.2:c.777G>A	NP_001339753.1:p.Ala259=
NR_109778.2:n.1209G>A