Canonical Allele Identifier: CA351413082

Gene: D2HGDH

Linked Data

• ClinVar Variation Id: 649282
• ClinVar RCV Id: RCV000804179
• dbSNP Id: rs1575352566
• gnomAD v4: 2-241767773-T-C
• MyVariant Identifiers: chr2:g.242707188T>C (hg19) ; chr2:g.241767773T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767773T>C , CM000664.2:g.241767773T>C	GRCh38
NC_000002.11:g.242707188T>C , CM000664.1:g.242707188T>C	GRCh37
NC_000002.10:g.242355861T>C	NCBI36
NG_012012.1:g.38159T>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1370T>C MANE Select	ENSP00000315351.4:p.Leu457Pro
ENST00000321264.8:c.1370T>C	ENSP00000315351.4:p.Leu457Pro
ENST00000400769.6:c.*120T>C	ENSP00000383580.2:n.*120T>C
ENST00000403782.5:c.968T>C	ENSP00000384723.1:p.Leu323Pro
ENST00000436747.5:c.*2606T>C	ENSP00000400212.1:n.*2606T>C
ENST00000445308.1:c.766T>C
ENST00000468064.5:n.1260T>C
ENST00000470343.5:n.851T>C
ENST00000473126.1:n.569T>C
ENST00000486953.5:n.1194T>C
ENST00000610344.1:c.*214T>C	ENSP00000481906.1:n.*214T>C
NM_001287249.1:c.968T>C	NP_001274178.1:p.Leu323Pro
NM_152783.4:c.1370T>C	NP_689996.4:p.Leu457Pro
NR_109778.1:n.1292T>C
XM_011511734.1:c.1490T>C	XP_011510036.1:p.Leu497Pro
XM_011511735.1:c.1448T>C	XP_011510037.1:p.Leu483Pro
XM_011511736.1:c.1412T>C	XP_011510038.1:p.Leu471Pro
XM_011511744.1:c.*102T>C	XP_011510046.1:n.*102T>C
XM_011511750.1:c.*37T>C	XP_011510052.1:n.*37T>C
XM_011511754.1:c.929T>C	XP_011510056.1:p.Leu310Pro
XM_011511755.1:c.920T>C	XP_011510057.1:p.Leu307Pro
XM_011511756.1:c.917T>C	XP_011510058.1:p.Leu306Pro
XR_923004.1:n.2002T>C
XR_923007.1:n.1712T>C
XR_923011.1:n.1813T>C
NM_001352824.1:c.809T>C	NP_001339753.1:p.Leu270Pro
XM_011511734.2:c.1490T>C	XP_011510036.1:p.Leu497Pro
XM_011511735.2:c.1448T>C	XP_011510037.1:p.Leu483Pro
XM_011511736.2:c.1412T>C	XP_011510038.1:p.Leu471Pro
XM_011511744.2:c.*102T>C	XP_011510046.1:n.*102T>C
XM_011511750.3:c.*37T>C	XP_011510052.1:n.*37T>C
XM_011511756.2:c.917T>C	XP_011510058.1:p.Leu306Pro
XM_024453102.1:c.1262T>C	XP_024308870.1:p.Leu421Pro
XR_001738918.2:n.1744T>C
XR_001738919.2:n.1678T>C
XR_923004.3:n.2001T>C
XR_923007.3:n.1711T>C
XR_923011.3:n.1812T>C
NM_152783.5:c.1370T>C MANE Select	NP_689996.4:p.Leu457Pro
NM_001287249.2:c.968T>C	NP_001274178.1:p.Leu323Pro
NM_001352824.2:c.809T>C	NP_001339753.1:p.Leu270Pro
NR_109778.2:n.1241T>C