Canonical Allele Identifier: CA351413089

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707192G>C (hg19) ; chr2:g.241767777G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767777G>C , CM000664.2:g.241767777G>C	GRCh38
NC_000002.11:g.242707192G>C , CM000664.1:g.242707192G>C	GRCh37
NC_000002.10:g.242355865G>C	NCBI36
NG_012012.1:g.38163G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1374G>C MANE Select	ENSP00000315351.4:p.Glu458Asp
ENST00000321264.8:c.1374G>C	ENSP00000315351.4:p.Glu458Asp
ENST00000400769.6:c.*124G>C	ENSP00000383580.2:n.*124G>C
ENST00000403782.5:c.972G>C	ENSP00000384723.1:p.Glu324Asp
ENST00000436747.5:c.*2610G>C	ENSP00000400212.1:n.*2610G>C
ENST00000445308.1:c.770G>C
ENST00000468064.5:n.1264G>C
ENST00000470343.5:n.855G>C
ENST00000473126.1:n.573G>C
ENST00000486953.5:n.1198G>C
ENST00000610344.1:c.*218G>C	ENSP00000481906.1:n.*218G>C
NM_001287249.1:c.972G>C	NP_001274178.1:p.Glu324Asp
NM_152783.4:c.1374G>C	NP_689996.4:p.Glu458Asp
NR_109778.1:n.1296G>C
XM_011511734.1:c.1494G>C	XP_011510036.1:p.Glu498Asp
XM_011511735.1:c.1452G>C	XP_011510037.1:p.Glu484Asp
XM_011511736.1:c.1416G>C	XP_011510038.1:p.Glu472Asp
XM_011511744.1:c.*106G>C	XP_011510046.1:n.*106G>C
XM_011511750.1:c.*41G>C	XP_011510052.1:n.*41G>C
XM_011511754.1:c.933G>C	XP_011510056.1:p.Glu311Asp
XM_011511755.1:c.924G>C	XP_011510057.1:p.Glu308Asp
XM_011511756.1:c.921G>C	XP_011510058.1:p.Glu307Asp
XR_923004.1:n.2006G>C
XR_923007.1:n.1716G>C
XR_923011.1:n.1817G>C
NM_001352824.1:c.813G>C	NP_001339753.1:p.Glu271Asp
XM_011511734.2:c.1494G>C	XP_011510036.1:p.Glu498Asp
XM_011511735.2:c.1452G>C	XP_011510037.1:p.Glu484Asp
XM_011511736.2:c.1416G>C	XP_011510038.1:p.Glu472Asp
XM_011511744.2:c.*106G>C	XP_011510046.1:n.*106G>C
XM_011511750.3:c.*41G>C	XP_011510052.1:n.*41G>C
XM_011511756.2:c.921G>C	XP_011510058.1:p.Glu307Asp
XM_024453102.1:c.1266G>C	XP_024308870.1:p.Glu422Asp
XR_001738918.2:n.1748G>C
XR_001738919.2:n.1682G>C
XR_923004.3:n.2005G>C
XR_923007.3:n.1715G>C
XR_923011.3:n.1816G>C
NM_152783.5:c.1374G>C MANE Select	NP_689996.4:p.Glu458Asp
NM_001287249.2:c.972G>C	NP_001274178.1:p.Glu324Asp
NM_001352824.2:c.813G>C	NP_001339753.1:p.Glu271Asp
NR_109778.2:n.1245G>C