Canonical Allele Identifier: CA351413055

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707173C>A (hg19) ; chr2:g.241767758C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767758C>A , CM000664.2:g.241767758C>A	GRCh38
NC_000002.11:g.242707173C>A , CM000664.1:g.242707173C>A	GRCh37
NC_000002.10:g.242355846C>A	NCBI36
NG_012012.1:g.38144C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1355C>A MANE Select	ENSP00000315351.4:p.Ser452Ter
ENST00000321264.8:c.1355C>A	ENSP00000315351.4:p.Ser452Ter
ENST00000400769.6:c.*105C>A	ENSP00000383580.2:n.*105C>A
ENST00000403782.5:c.953C>A	ENSP00000384723.1:p.Ser318Ter
ENST00000436747.5:c.*2591C>A	ENSP00000400212.1:n.*2591C>A
ENST00000445308.1:c.751C>A
ENST00000468064.5:n.1245C>A
ENST00000470343.5:n.836C>A
ENST00000473126.1:n.554C>A
ENST00000486953.5:n.1179C>A
ENST00000610344.1:c.*199C>A	ENSP00000481906.1:n.*199C>A
NM_001287249.1:c.953C>A	NP_001274178.1:p.Ser318Ter
NM_152783.4:c.1355C>A	NP_689996.4:p.Ser452Ter
NR_109778.1:n.1277C>A
XM_011511734.1:c.1475C>A	XP_011510036.1:p.Ser492Ter
XM_011511735.1:c.1433C>A	XP_011510037.1:p.Ser478Ter
XM_011511736.1:c.1397C>A	XP_011510038.1:p.Ser466Ter
XM_011511744.1:c.*87C>A	XP_011510046.1:n.*87C>A
XM_011511750.1:c.*22C>A	XP_011510052.1:n.*22C>A
XM_011511754.1:c.914C>A	XP_011510056.1:p.Ser305Ter
XM_011511755.1:c.905C>A	XP_011510057.1:p.Ser302Ter
XM_011511756.1:c.902C>A	XP_011510058.1:p.Ser301Ter
XR_923004.1:n.1987C>A
XR_923007.1:n.1697C>A
XR_923011.1:n.1798C>A
NM_001352824.1:c.794C>A	NP_001339753.1:p.Ser265Ter
XM_011511734.2:c.1475C>A	XP_011510036.1:p.Ser492Ter
XM_011511735.2:c.1433C>A	XP_011510037.1:p.Ser478Ter
XM_011511736.2:c.1397C>A	XP_011510038.1:p.Ser466Ter
XM_011511744.2:c.*87C>A	XP_011510046.1:n.*87C>A
XM_011511750.3:c.*22C>A	XP_011510052.1:n.*22C>A
XM_011511756.2:c.902C>A	XP_011510058.1:p.Ser301Ter
XM_024453102.1:c.1247C>A	XP_024308870.1:p.Ser416Ter
XR_001738918.2:n.1729C>A
XR_001738919.2:n.1663C>A
XR_923004.3:n.1986C>A
XR_923007.3:n.1696C>A
XR_923011.3:n.1797C>A
NM_152783.5:c.1355C>A MANE Select	NP_689996.4:p.Ser452Ter
NM_001287249.2:c.953C>A	NP_001274178.1:p.Ser318Ter
NM_001352824.2:c.794C>A	NP_001339753.1:p.Ser265Ter
NR_109778.2:n.1226C>A