Canonical Allele Identifier: CA432079098

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707201G>C (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767786G>C , CM000664.2:g.241767786G>C	GRCh38
NC_000002.11:g.242707201G>C , CM000664.1:g.242707201G>C	GRCh37
NC_000002.10:g.242355874G>C	NCBI36
NG_012012.1:g.38172G>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1383G>C MANE Select	ENSP00000315351.4:p.Val461=
ENST00000321264.8:c.1383G>C	ENSP00000315351.4:p.Val461=
ENST00000400769.6:c.*133G>C	ENSP00000383580.2:n.*133G>C
ENST00000403782.5:c.981G>C	ENSP00000384723.1:p.Val327=
ENST00000436747.5:c.*2619G>C	ENSP00000400212.1:n.*2619G>C
ENST00000445308.1:c.779G>C
ENST00000468064.5:n.1273G>C
ENST00000470343.5:n.864G>C
ENST00000473126.1:n.582G>C
ENST00000486953.5:n.1207G>C
ENST00000610344.1:c.*227G>C	ENSP00000481906.1:n.*227G>C
NM_001287249.1:c.981G>C	NP_001274178.1:p.Val327=
NM_152783.4:c.1383G>C	NP_689996.4:p.Val461=
NR_109778.1:n.1305G>C
XM_011511734.1:c.1503G>C	XP_011510036.1:p.Val501=
XM_011511735.1:c.1461G>C	XP_011510037.1:p.Val487=
XM_011511736.1:c.1425G>C	XP_011510038.1:p.Val475=
XM_011511744.1:c.*115G>C	XP_011510046.1:n.*115G>C
XM_011511750.1:c.*50G>C	XP_011510052.1:n.*50G>C
XM_011511754.1:c.942G>C	XP_011510056.1:p.Val314=
XM_011511755.1:c.933G>C	XP_011510057.1:p.Val311=
XM_011511756.1:c.930G>C	XP_011510058.1:p.Val310=
XR_923004.1:n.2015G>C
XR_923007.1:n.1725G>C
XR_923011.1:n.1826G>C
NM_001352824.1:c.822G>C	NP_001339753.1:p.Val274=
XM_011511734.2:c.1503G>C	XP_011510036.1:p.Val501=
XM_011511735.2:c.1461G>C	XP_011510037.1:p.Val487=
XM_011511736.2:c.1425G>C	XP_011510038.1:p.Val475=
XM_011511750.3:c.*50G>C	XP_011510052.1:n.*50G>C
XM_011511756.2:c.930G>C	XP_011510058.1:p.Val310=
XM_024453102.1:c.1275G>C	XP_024308870.1:p.Val425=
XR_001738918.2:n.1757G>C
XR_001738919.2:n.1691G>C
XR_923004.3:n.2014G>C
XR_923007.3:n.1724G>C
XR_923011.3:n.1825G>C
NM_152783.5:c.1383G>C MANE Select	NP_689996.4:p.Val461=
NM_001287249.2:c.981G>C	NP_001274178.1:p.Val327=
NM_001352824.2:c.822G>C	NP_001339753.1:p.Val274=
NR_109778.2:n.1254G>C