Canonical Allele Identifier: CA351413043

Gene: D2HGDH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1349G>A MANE Select	ENSP00000315351.4:p.Ser450Asn
ENST00000321264.8:c.1349G>A	ENSP00000315351.4:p.Ser450Asn
ENST00000400769.6:c.*99G>A	ENSP00000383580.2:n.*99G>A
ENST00000403782.5:c.947G>A	ENSP00000384723.1:p.Ser316Asn
ENST00000436747.5:c.*2585G>A	ENSP00000400212.1:n.*2585G>A
ENST00000445308.1:c.745G>A
ENST00000468064.5:n.1239G>A
ENST00000470343.5:n.830G>A
ENST00000473126.1:n.548G>A
ENST00000486953.5:n.1173G>A
ENST00000610344.1:c.*193G>A	ENSP00000481906.1:n.*193G>A
NM_001287249.1:c.947G>A	NP_001274178.1:p.Ser316Asn
NM_152783.4:c.1349G>A	NP_689996.4:p.Ser450Asn
NR_109778.1:n.1271G>A
XM_011511734.1:c.1469G>A	XP_011510036.1:p.Ser490Asn
XM_011511735.1:c.1427G>A	XP_011510037.1:p.Ser476Asn
XM_011511736.1:c.1391G>A	XP_011510038.1:p.Ser464Asn
XM_011511744.1:c.*81G>A	XP_011510046.1:n.*81G>A
XM_011511750.1:c.*16G>A	XP_011510052.1:n.*16G>A
XM_011511754.1:c.908G>A	XP_011510056.1:p.Ser303Asn
XM_011511755.1:c.899G>A	XP_011510057.1:p.Ser300Asn
XM_011511756.1:c.896G>A	XP_011510058.1:p.Ser299Asn
XR_923004.1:n.1981G>A
XR_923007.1:n.1691G>A
XR_923011.1:n.1792G>A
NM_001352824.1:c.788G>A	NP_001339753.1:p.Ser263Asn
XM_011511734.2:c.1469G>A	XP_011510036.1:p.Ser490Asn
XM_011511735.2:c.1427G>A	XP_011510037.1:p.Ser476Asn
XM_011511736.2:c.1391G>A	XP_011510038.1:p.Ser464Asn
XM_011511744.2:c.*81G>A	XP_011510046.1:n.*81G>A
XM_011511750.3:c.*16G>A	XP_011510052.1:n.*16G>A
XM_011511756.2:c.896G>A	XP_011510058.1:p.Ser299Asn
XM_024453102.1:c.1241G>A	XP_024308870.1:p.Ser414Asn
XR_001738918.2:n.1723G>A
XR_001738919.2:n.1657G>A
XR_923004.3:n.1980G>A
XR_923007.3:n.1690G>A
XR_923011.3:n.1791G>A
NM_152783.5:c.1349G>A MANE Select	NP_689996.4:p.Ser450Asn
NM_001287249.2:c.947G>A	NP_001274178.1:p.Ser316Asn
NM_001352824.2:c.788G>A	NP_001339753.1:p.Ser263Asn
NR_109778.2:n.1220G>A