Canonical Allele Identifier: CA351413128

Gene: D2HGDH

Linked Data

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

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1391G>T MANE Select	ENSP00000315351.4:p.Trp464Leu
ENST00000321264.8:c.1391G>T	ENSP00000315351.4:p.Trp464Leu
ENST00000400769.6:c.*141G>T	ENSP00000383580.2:n.*141G>T
ENST00000403782.5:c.989G>T	ENSP00000384723.1:p.Trp330Leu
ENST00000436747.5:c.*2627G>T	ENSP00000400212.1:n.*2627G>T
ENST00000445308.1:c.787G>T
ENST00000468064.5:n.1281G>T
ENST00000470343.5:n.872G>T
ENST00000473126.1:n.590G>T
ENST00000486953.5:n.1215G>T
ENST00000610344.1:c.*235G>T	ENSP00000481906.1:n.*235G>T
NM_001287249.1:c.989G>T	NP_001274178.1:p.Trp330Leu
NM_152783.4:c.1391G>T	NP_689996.4:p.Trp464Leu
NR_109778.1:n.1313G>T
XM_011511734.1:c.1511G>T	XP_011510036.1:p.Trp504Leu
XM_011511735.1:c.1469G>T	XP_011510037.1:p.Trp490Leu
XM_011511736.1:c.1433G>T	XP_011510038.1:p.Trp478Leu
XM_011511744.1:c.*123G>T	XP_011510046.1:n.*123G>T
XM_011511750.1:c.*58G>T	XP_011510052.1:n.*58G>T
XM_011511754.1:c.950G>T	XP_011510056.1:p.Trp317Leu
XM_011511755.1:c.941G>T	XP_011510057.1:p.Trp314Leu
XM_011511756.1:c.938G>T	XP_011510058.1:p.Trp313Leu
XR_923004.1:n.2023G>T
XR_923007.1:n.1733G>T
XR_923011.1:n.1834G>T
NM_001352824.1:c.830G>T	NP_001339753.1:p.Trp277Leu
XM_011511734.2:c.1511G>T	XP_011510036.1:p.Trp504Leu
XM_011511735.2:c.1469G>T	XP_011510037.1:p.Trp490Leu
XM_011511736.2:c.1433G>T	XP_011510038.1:p.Trp478Leu
XM_011511750.3:c.*58G>T	XP_011510052.1:n.*58G>T
XM_011511756.2:c.938G>T	XP_011510058.1:p.Trp313Leu
XM_024453102.1:c.1283G>T	XP_024308870.1:p.Trp428Leu
XR_001738918.2:n.1765G>T
XR_001738919.2:n.1699G>T
XR_923004.3:n.2022G>T
XR_923007.3:n.1732G>T
XR_923011.3:n.1833G>T
NM_152783.5:c.1391G>T MANE Select	NP_689996.4:p.Trp464Leu
NM_001287249.2:c.989G>T	NP_001274178.1:p.Trp330Leu
NM_001352824.2:c.830G>T	NP_001339753.1:p.Trp277Leu
NR_109778.2:n.1262G>T