Canonical Allele Identifier: CA351413044

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707167G>C (hg19) ; chr2:g.241767752G>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767752G>C , CM000664.2:g.241767752G>C	GRCh38
NC_000002.11:g.242707167G>C , CM000664.1:g.242707167G>C	GRCh37
NC_000002.10:g.242355840G>C	NCBI36
NG_012012.1:g.38138G>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1349G>C MANE Select	ENSP00000315351.4:p.Ser450Thr
ENST00000321264.8:c.1349G>C	ENSP00000315351.4:p.Ser450Thr
ENST00000400769.6:c.*99G>C	ENSP00000383580.2:n.*99G>C
ENST00000403782.5:c.947G>C	ENSP00000384723.1:p.Ser316Thr
ENST00000436747.5:c.*2585G>C	ENSP00000400212.1:n.*2585G>C
ENST00000445308.1:c.745G>C
ENST00000468064.5:n.1239G>C
ENST00000470343.5:n.830G>C
ENST00000473126.1:n.548G>C
ENST00000486953.5:n.1173G>C
ENST00000610344.1:c.*193G>C	ENSP00000481906.1:n.*193G>C
NM_001287249.1:c.947G>C	NP_001274178.1:p.Ser316Thr
NM_152783.4:c.1349G>C	NP_689996.4:p.Ser450Thr
NR_109778.1:n.1271G>C
XM_011511734.1:c.1469G>C	XP_011510036.1:p.Ser490Thr
XM_011511735.1:c.1427G>C	XP_011510037.1:p.Ser476Thr
XM_011511736.1:c.1391G>C	XP_011510038.1:p.Ser464Thr
XM_011511744.1:c.*81G>C	XP_011510046.1:n.*81G>C
XM_011511750.1:c.*16G>C	XP_011510052.1:n.*16G>C
XM_011511754.1:c.908G>C	XP_011510056.1:p.Ser303Thr
XM_011511755.1:c.899G>C	XP_011510057.1:p.Ser300Thr
XM_011511756.1:c.896G>C	XP_011510058.1:p.Ser299Thr
XR_923004.1:n.1981G>C
XR_923007.1:n.1691G>C
XR_923011.1:n.1792G>C
NM_001352824.1:c.788G>C	NP_001339753.1:p.Ser263Thr
XM_011511734.2:c.1469G>C	XP_011510036.1:p.Ser490Thr
XM_011511735.2:c.1427G>C	XP_011510037.1:p.Ser476Thr
XM_011511736.2:c.1391G>C	XP_011510038.1:p.Ser464Thr
XM_011511744.2:c.*81G>C	XP_011510046.1:n.*81G>C
XM_011511750.3:c.*16G>C	XP_011510052.1:n.*16G>C
XM_011511756.2:c.896G>C	XP_011510058.1:p.Ser299Thr
XM_024453102.1:c.1241G>C	XP_024308870.1:p.Ser414Thr
XR_001738918.2:n.1723G>C
XR_001738919.2:n.1657G>C
XR_923004.3:n.1980G>C
XR_923007.3:n.1690G>C
XR_923011.3:n.1791G>C
NM_152783.5:c.1349G>C MANE Select	NP_689996.4:p.Ser450Thr
NM_001287249.2:c.947G>C	NP_001274178.1:p.Ser316Thr
NM_001352824.2:c.788G>C	NP_001339753.1:p.Ser263Thr
NR_109778.2:n.1220G>C