Canonical Allele Identifier: CA351413053

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707172T>C (hg19) ; chr2:g.241767757T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767757T>C , CM000664.2:g.241767757T>C	GRCh38
NC_000002.11:g.242707172T>C , CM000664.1:g.242707172T>C	GRCh37
NC_000002.10:g.242355845T>C	NCBI36
NG_012012.1:g.38143T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1354T>C MANE Select	ENSP00000315351.4:p.Ser452Pro
ENST00000321264.8:c.1354T>C	ENSP00000315351.4:p.Ser452Pro
ENST00000400769.6:c.*104T>C	ENSP00000383580.2:n.*104T>C
ENST00000403782.5:c.952T>C	ENSP00000384723.1:p.Ser318Pro
ENST00000436747.5:c.*2590T>C	ENSP00000400212.1:n.*2590T>C
ENST00000445308.1:c.750T>C
ENST00000468064.5:n.1244T>C
ENST00000470343.5:n.835T>C
ENST00000473126.1:n.553T>C
ENST00000486953.5:n.1178T>C
ENST00000610344.1:c.*198T>C	ENSP00000481906.1:n.*198T>C
NM_001287249.1:c.952T>C	NP_001274178.1:p.Ser318Pro
NM_152783.4:c.1354T>C	NP_689996.4:p.Ser452Pro
NR_109778.1:n.1276T>C
XM_011511734.1:c.1474T>C	XP_011510036.1:p.Ser492Pro
XM_011511735.1:c.1432T>C	XP_011510037.1:p.Ser478Pro
XM_011511736.1:c.1396T>C	XP_011510038.1:p.Ser466Pro
XM_011511744.1:c.*86T>C	XP_011510046.1:n.*86T>C
XM_011511750.1:c.*21T>C	XP_011510052.1:n.*21T>C
XM_011511754.1:c.913T>C	XP_011510056.1:p.Ser305Pro
XM_011511755.1:c.904T>C	XP_011510057.1:p.Ser302Pro
XM_011511756.1:c.901T>C	XP_011510058.1:p.Ser301Pro
XR_923004.1:n.1986T>C
XR_923007.1:n.1696T>C
XR_923011.1:n.1797T>C
NM_001352824.1:c.793T>C	NP_001339753.1:p.Ser265Pro
XM_011511734.2:c.1474T>C	XP_011510036.1:p.Ser492Pro
XM_011511735.2:c.1432T>C	XP_011510037.1:p.Ser478Pro
XM_011511736.2:c.1396T>C	XP_011510038.1:p.Ser466Pro
XM_011511744.2:c.*86T>C	XP_011510046.1:n.*86T>C
XM_011511750.3:c.*21T>C	XP_011510052.1:n.*21T>C
XM_011511756.2:c.901T>C	XP_011510058.1:p.Ser301Pro
XM_024453102.1:c.1246T>C	XP_024308870.1:p.Ser416Pro
XR_001738918.2:n.1728T>C
XR_001738919.2:n.1662T>C
XR_923004.3:n.1985T>C
XR_923007.3:n.1695T>C
XR_923011.3:n.1796T>C
NM_152783.5:c.1354T>C MANE Select	NP_689996.4:p.Ser452Pro
NM_001287249.2:c.952T>C	NP_001274178.1:p.Ser318Pro
NM_001352824.2:c.793T>C	NP_001339753.1:p.Ser265Pro
NR_109778.2:n.1225T>C