Canonical Allele Identifier: CA351413365

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707238G>T (hg19) ; chr2:g.241767823G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767823G>T , CM000664.2:g.241767823G>T	GRCh38
NC_000002.11:g.242707238G>T , CM000664.1:g.242707238G>T	GRCh37
NC_000002.10:g.242355911G>T	NCBI36
NG_012012.1:g.38209G>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1420G>T MANE Select	ENSP00000315351.4:p.Ala474Ser
ENST00000321264.8:c.1420G>T	ENSP00000315351.4:p.Ala474Ser
ENST00000400769.6:c.*170G>T	ENSP00000383580.2:n.*170G>T
ENST00000403782.5:c.1018G>T	ENSP00000384723.1:p.Ala340Ser
ENST00000436747.5:c.*2656G>T	ENSP00000400212.1:n.*2656G>T
ENST00000445308.1:c.816G>T
ENST00000468064.5:n.1310G>T
ENST00000470343.5:n.901G>T
ENST00000473126.1:n.619G>T
ENST00000486953.5:n.1244G>T
ENST00000610344.1:c.*264G>T	ENSP00000481906.1:n.*264G>T
NM_001287249.1:c.1018G>T	NP_001274178.1:p.Ala340Ser
NM_152783.4:c.1420G>T	NP_689996.4:p.Ala474Ser
NR_109778.1:n.1342G>T
XM_011511734.1:c.1540G>T	XP_011510036.1:p.Ala514Ser
XM_011511735.1:c.1498G>T	XP_011510037.1:p.Ala500Ser
XM_011511736.1:c.1462G>T	XP_011510038.1:p.Ala488Ser
XM_011511750.1:c.*87G>T	XP_011510052.1:n.*87G>T
XM_011511754.1:c.979G>T	XP_011510056.1:p.Ala327Ser
XM_011511755.1:c.970G>T	XP_011510057.1:p.Ala324Ser
XM_011511756.1:c.967G>T	XP_011510058.1:p.Ala323Ser
XR_923004.1:n.2052G>T
XR_923007.1:n.1762G>T
XR_923011.1:n.1863G>T
NM_001352824.1:c.859G>T	NP_001339753.1:p.Ala287Ser
XM_011511734.2:c.1540G>T	XP_011510036.1:p.Ala514Ser
XM_011511735.2:c.1498G>T	XP_011510037.1:p.Ala500Ser
XM_011511736.2:c.1462G>T	XP_011510038.1:p.Ala488Ser
XM_011511750.3:c.*87G>T	XP_011510052.1:n.*87G>T
XM_011511756.2:c.967G>T	XP_011510058.1:p.Ala323Ser
XM_024453102.1:c.1312G>T	XP_024308870.1:p.Ala438Ser
XR_001738918.2:n.1794G>T
XR_001738919.2:n.1728G>T
XR_923004.3:n.2051G>T
XR_923007.3:n.1761G>T
XR_923011.3:n.1862G>T
NM_152783.5:c.1420G>T MANE Select	NP_689996.4:p.Ala474Ser
NM_001287249.2:c.1018G>T	NP_001274178.1:p.Ala340Ser
NM_001352824.2:c.859G>T	NP_001339753.1:p.Ala287Ser
NR_109778.2:n.1291G>T