Canonical Allele Identifier: CA351413336

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707237C>A (hg19) ; chr2:g.241767822C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767822C>A , CM000664.2:g.241767822C>A	GRCh38
NC_000002.11:g.242707237C>A , CM000664.1:g.242707237C>A	GRCh37
NC_000002.10:g.242355910C>A	NCBI36
NG_012012.1:g.38208C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1419C>A MANE Select	ENSP00000315351.4:p.Ser473Arg
ENST00000321264.8:c.1419C>A	ENSP00000315351.4:p.Ser473Arg
ENST00000400769.6:c.*169C>A	ENSP00000383580.2:n.*169C>A
ENST00000403782.5:c.1017C>A	ENSP00000384723.1:p.Ser339Arg
ENST00000436747.5:c.*2655C>A	ENSP00000400212.1:n.*2655C>A
ENST00000445308.1:c.815C>A
ENST00000468064.5:n.1309C>A
ENST00000470343.5:n.900C>A
ENST00000473126.1:n.618C>A
ENST00000486953.5:n.1243C>A
ENST00000610344.1:c.*263C>A	ENSP00000481906.1:n.*263C>A
NM_001287249.1:c.1017C>A	NP_001274178.1:p.Ser339Arg
NM_152783.4:c.1419C>A	NP_689996.4:p.Ser473Arg
NR_109778.1:n.1341C>A
XM_011511734.1:c.1539C>A	XP_011510036.1:p.Ser513Arg
XM_011511735.1:c.1497C>A	XP_011510037.1:p.Ser499Arg
XM_011511736.1:c.1461C>A	XP_011510038.1:p.Ser487Arg
XM_011511750.1:c.*86C>A	XP_011510052.1:n.*86C>A
XM_011511754.1:c.978C>A	XP_011510056.1:p.Ser326Arg
XM_011511755.1:c.969C>A	XP_011510057.1:p.Ser323Arg
XM_011511756.1:c.966C>A	XP_011510058.1:p.Ser322Arg
XR_923004.1:n.2051C>A
XR_923007.1:n.1761C>A
XR_923011.1:n.1862C>A
NM_001352824.1:c.858C>A	NP_001339753.1:p.Ser286Arg
XM_011511734.2:c.1539C>A	XP_011510036.1:p.Ser513Arg
XM_011511735.2:c.1497C>A	XP_011510037.1:p.Ser499Arg
XM_011511736.2:c.1461C>A	XP_011510038.1:p.Ser487Arg
XM_011511750.3:c.*86C>A	XP_011510052.1:n.*86C>A
XM_011511756.2:c.966C>A	XP_011510058.1:p.Ser322Arg
XM_024453102.1:c.1311C>A	XP_024308870.1:p.Ser437Arg
XR_001738918.2:n.1793C>A
XR_001738919.2:n.1727C>A
XR_923004.3:n.2050C>A
XR_923007.3:n.1760C>A
XR_923011.3:n.1861C>A
NM_152783.5:c.1419C>A MANE Select	NP_689996.4:p.Ser473Arg
NM_001287249.2:c.1017C>A	NP_001274178.1:p.Ser339Arg
NM_001352824.2:c.858C>A	NP_001339753.1:p.Ser286Arg
NR_109778.2:n.1290C>A