Canonical Allele Identifier: CA351413028

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1260693639
• gnomAD v2: 2-242707160-G-C
• gnomAD v4: 2-241767745-G-C
• MyVariant Identifiers: chr2:g.242707160G>C (hg19) ; chr2:g.241767745G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767745G>C , CM000664.2:g.241767745G>C	GRCh38
NC_000002.11:g.242707160G>C , CM000664.1:g.242707160G>C	GRCh37
NC_000002.10:g.242355833G>C	NCBI36
NG_012012.1:g.38131G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1342G>C MANE Select	ENSP00000315351.4:p.Ala448Pro
ENST00000321264.8:c.1342G>C	ENSP00000315351.4:p.Ala448Pro
ENST00000400769.6:c.*92G>C	ENSP00000383580.2:n.*92G>C
ENST00000403782.5:c.940G>C	ENSP00000384723.1:p.Ala314Pro
ENST00000436747.5:c.*2578G>C	ENSP00000400212.1:n.*2578G>C
ENST00000445308.1:c.738G>C
ENST00000468064.5:n.1232G>C
ENST00000470343.5:n.823G>C
ENST00000473126.1:n.541G>C
ENST00000486953.5:n.1166G>C
ENST00000610344.1:c.*186G>C	ENSP00000481906.1:n.*186G>C
NM_001287249.1:c.940G>C	NP_001274178.1:p.Ala314Pro
NM_152783.4:c.1342G>C	NP_689996.4:p.Ala448Pro
NR_109778.1:n.1264G>C
XM_011511734.1:c.1462G>C	XP_011510036.1:p.Ala488Pro
XM_011511735.1:c.1420G>C	XP_011510037.1:p.Ala474Pro
XM_011511736.1:c.1384G>C	XP_011510038.1:p.Ala462Pro
XM_011511744.1:c.*74G>C	XP_011510046.1:n.*74G>C
XM_011511750.1:c.*9G>C	XP_011510052.1:n.*9G>C
XM_011511754.1:c.901G>C	XP_011510056.1:p.Ala301Pro
XM_011511755.1:c.892G>C	XP_011510057.1:p.Ala298Pro
XM_011511756.1:c.889G>C	XP_011510058.1:p.Ala297Pro
XR_923004.1:n.1974G>C
XR_923007.1:n.1684G>C
XR_923011.1:n.1785G>C
NM_001352824.1:c.781G>C	NP_001339753.1:p.Ala261Pro
XM_011511734.2:c.1462G>C	XP_011510036.1:p.Ala488Pro
XM_011511735.2:c.1420G>C	XP_011510037.1:p.Ala474Pro
XM_011511736.2:c.1384G>C	XP_011510038.1:p.Ala462Pro
XM_011511744.2:c.*74G>C	XP_011510046.1:n.*74G>C
XM_011511750.3:c.*9G>C	XP_011510052.1:n.*9G>C
XM_011511756.2:c.889G>C	XP_011510058.1:p.Ala297Pro
XM_024453102.1:c.1234G>C	XP_024308870.1:p.Ala412Pro
XR_001738918.2:n.1716G>C
XR_001738919.2:n.1650G>C
XR_923004.3:n.1973G>C
XR_923007.3:n.1683G>C
XR_923011.3:n.1784G>C
NM_152783.5:c.1342G>C MANE Select	NP_689996.4:p.Ala448Pro
NM_001287249.2:c.940G>C	NP_001274178.1:p.Ala314Pro
NM_001352824.2:c.781G>C	NP_001339753.1:p.Ala261Pro
NR_109778.2:n.1213G>C