Canonical Allele Identifier: CA351413025

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1162829825
• gnomAD v4: 2-241767744-G-C
• MyVariant Identifiers: chr2:g.242707159G>C (hg19) ; chr2:g.241767744G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767744G>C , CM000664.2:g.241767744G>C	GRCh38
NC_000002.11:g.242707159G>C , CM000664.1:g.242707159G>C	GRCh37
NC_000002.10:g.242355832G>C	NCBI36
NG_012012.1:g.38130G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1341G>C MANE Select	ENSP00000315351.4:p.Glu447Asp
ENST00000321264.8:c.1341G>C	ENSP00000315351.4:p.Glu447Asp
ENST00000400769.6:c.*91G>C	ENSP00000383580.2:n.*91G>C
ENST00000403782.5:c.939G>C	ENSP00000384723.1:p.Glu313Asp
ENST00000436747.5:c.*2577G>C	ENSP00000400212.1:n.*2577G>C
ENST00000445308.1:c.737G>C
ENST00000468064.5:n.1231G>C
ENST00000470343.5:n.822G>C
ENST00000473126.1:n.540G>C
ENST00000486953.5:n.1165G>C
ENST00000610344.1:c.*185G>C	ENSP00000481906.1:n.*185G>C
NM_001287249.1:c.939G>C	NP_001274178.1:p.Glu313Asp
NM_152783.4:c.1341G>C	NP_689996.4:p.Glu447Asp
NR_109778.1:n.1263G>C
XM_011511734.1:c.1461G>C	XP_011510036.1:p.Glu487Asp
XM_011511735.1:c.1419G>C	XP_011510037.1:p.Glu473Asp
XM_011511736.1:c.1383G>C	XP_011510038.1:p.Glu461Asp
XM_011511744.1:c.*73G>C	XP_011510046.1:n.*73G>C
XM_011511750.1:c.*8G>C	XP_011510052.1:n.*8G>C
XM_011511754.1:c.900G>C	XP_011510056.1:p.Glu300Asp
XM_011511755.1:c.891G>C	XP_011510057.1:p.Glu297Asp
XM_011511756.1:c.888G>C	XP_011510058.1:p.Glu296Asp
XR_923004.1:n.1973G>C
XR_923007.1:n.1683G>C
XR_923011.1:n.1784G>C
NM_001352824.1:c.780G>C	NP_001339753.1:p.Glu260Asp
XM_011511734.2:c.1461G>C	XP_011510036.1:p.Glu487Asp
XM_011511735.2:c.1419G>C	XP_011510037.1:p.Glu473Asp
XM_011511736.2:c.1383G>C	XP_011510038.1:p.Glu461Asp
XM_011511744.2:c.*73G>C	XP_011510046.1:n.*73G>C
XM_011511750.3:c.*8G>C	XP_011510052.1:n.*8G>C
XM_011511756.2:c.888G>C	XP_011510058.1:p.Glu296Asp
XM_024453102.1:c.1233G>C	XP_024308870.1:p.Glu411Asp
XR_001738918.2:n.1715G>C
XR_001738919.2:n.1649G>C
XR_923004.3:n.1972G>C
XR_923007.3:n.1682G>C
XR_923011.3:n.1783G>C
NM_152783.5:c.1341G>C MANE Select	NP_689996.4:p.Glu447Asp
NM_001287249.2:c.939G>C	NP_001274178.1:p.Glu313Asp
NM_001352824.2:c.780G>C	NP_001339753.1:p.Glu260Asp
NR_109778.2:n.1212G>C