Canonical Allele Identifier: CA351413126

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707209G>A (hg19) ; chr2:g.241767794G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767794G>A , CM000664.2:g.241767794G>A	GRCh38
NC_000002.11:g.242707209G>A , CM000664.1:g.242707209G>A	GRCh37
NC_000002.10:g.242355882G>A	NCBI36
NG_012012.1:g.38180G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1391G>A MANE Select	ENSP00000315351.4:p.Trp464Ter
ENST00000321264.8:c.1391G>A	ENSP00000315351.4:p.Trp464Ter
ENST00000400769.6:c.*141G>A	ENSP00000383580.2:n.*141G>A
ENST00000403782.5:c.989G>A	ENSP00000384723.1:p.Trp330Ter
ENST00000436747.5:c.*2627G>A	ENSP00000400212.1:n.*2627G>A
ENST00000445308.1:c.787G>A
ENST00000468064.5:n.1281G>A
ENST00000470343.5:n.872G>A
ENST00000473126.1:n.590G>A
ENST00000486953.5:n.1215G>A
ENST00000610344.1:c.*235G>A	ENSP00000481906.1:n.*235G>A
NM_001287249.1:c.989G>A	NP_001274178.1:p.Trp330Ter
NM_152783.4:c.1391G>A	NP_689996.4:p.Trp464Ter
NR_109778.1:n.1313G>A
XM_011511734.1:c.1511G>A	XP_011510036.1:p.Trp504Ter
XM_011511735.1:c.1469G>A	XP_011510037.1:p.Trp490Ter
XM_011511736.1:c.1433G>A	XP_011510038.1:p.Trp478Ter
XM_011511744.1:c.*123G>A	XP_011510046.1:n.*123G>A
XM_011511750.1:c.*58G>A	XP_011510052.1:n.*58G>A
XM_011511754.1:c.950G>A	XP_011510056.1:p.Trp317Ter
XM_011511755.1:c.941G>A	XP_011510057.1:p.Trp314Ter
XM_011511756.1:c.938G>A	XP_011510058.1:p.Trp313Ter
XR_923004.1:n.2023G>A
XR_923007.1:n.1733G>A
XR_923011.1:n.1834G>A
NM_001352824.1:c.830G>A	NP_001339753.1:p.Trp277Ter
XM_011511734.2:c.1511G>A	XP_011510036.1:p.Trp504Ter
XM_011511735.2:c.1469G>A	XP_011510037.1:p.Trp490Ter
XM_011511736.2:c.1433G>A	XP_011510038.1:p.Trp478Ter
XM_011511750.3:c.*58G>A	XP_011510052.1:n.*58G>A
XM_011511756.2:c.938G>A	XP_011510058.1:p.Trp313Ter
XM_024453102.1:c.1283G>A	XP_024308870.1:p.Trp428Ter
XR_001738918.2:n.1765G>A
XR_001738919.2:n.1699G>A
XR_923004.3:n.2022G>A
XR_923007.3:n.1732G>A
XR_923011.3:n.1833G>A
NM_152783.5:c.1391G>A MANE Select	NP_689996.4:p.Trp464Ter
NM_001287249.2:c.989G>A	NP_001274178.1:p.Trp330Ter
NM_001352824.2:c.830G>A	NP_001339753.1:p.Trp277Ter
NR_109778.2:n.1262G>A