Canonical Allele Identifier: CA351413124

Gene: D2HGDH

Linked Data

• dbSNP Id: rs1699275474
• gnomAD v4: 2-241767793-T-C
• MyVariant Identifiers: chr2:g.242707208T>C (hg19) ; chr2:g.241767793T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767793T>C , CM000664.2:g.241767793T>C	GRCh38
NC_000002.11:g.242707208T>C , CM000664.1:g.242707208T>C	GRCh37
NC_000002.10:g.242355881T>C	NCBI36
NG_012012.1:g.38179T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1390T>C MANE Select	ENSP00000315351.4:p.Trp464Arg
ENST00000321264.8:c.1390T>C	ENSP00000315351.4:p.Trp464Arg
ENST00000400769.6:c.*140T>C	ENSP00000383580.2:n.*140T>C
ENST00000403782.5:c.988T>C	ENSP00000384723.1:p.Trp330Arg
ENST00000436747.5:c.*2626T>C	ENSP00000400212.1:n.*2626T>C
ENST00000445308.1:c.786T>C
ENST00000468064.5:n.1280T>C
ENST00000470343.5:n.871T>C
ENST00000473126.1:n.589T>C
ENST00000486953.5:n.1214T>C
ENST00000610344.1:c.*234T>C	ENSP00000481906.1:n.*234T>C
NM_001287249.1:c.988T>C	NP_001274178.1:p.Trp330Arg
NM_152783.4:c.1390T>C	NP_689996.4:p.Trp464Arg
NR_109778.1:n.1312T>C
XM_011511734.1:c.1510T>C	XP_011510036.1:p.Trp504Arg
XM_011511735.1:c.1468T>C	XP_011510037.1:p.Trp490Arg
XM_011511736.1:c.1432T>C	XP_011510038.1:p.Trp478Arg
XM_011511744.1:c.*122T>C	XP_011510046.1:n.*122T>C
XM_011511750.1:c.*57T>C	XP_011510052.1:n.*57T>C
XM_011511754.1:c.949T>C	XP_011510056.1:p.Trp317Arg
XM_011511755.1:c.940T>C	XP_011510057.1:p.Trp314Arg
XM_011511756.1:c.937T>C	XP_011510058.1:p.Trp313Arg
XR_923004.1:n.2022T>C
XR_923007.1:n.1732T>C
XR_923011.1:n.1833T>C
NM_001352824.1:c.829T>C	NP_001339753.1:p.Trp277Arg
XM_011511734.2:c.1510T>C	XP_011510036.1:p.Trp504Arg
XM_011511735.2:c.1468T>C	XP_011510037.1:p.Trp490Arg
XM_011511736.2:c.1432T>C	XP_011510038.1:p.Trp478Arg
XM_011511750.3:c.*57T>C	XP_011510052.1:n.*57T>C
XM_011511756.2:c.937T>C	XP_011510058.1:p.Trp313Arg
XM_024453102.1:c.1282T>C	XP_024308870.1:p.Trp428Arg
XR_001738918.2:n.1764T>C
XR_001738919.2:n.1698T>C
XR_923004.3:n.2021T>C
XR_923007.3:n.1731T>C
XR_923011.3:n.1832T>C
NM_152783.5:c.1390T>C MANE Select	NP_689996.4:p.Trp464Arg
NM_001287249.2:c.988T>C	NP_001274178.1:p.Trp330Arg
NM_001352824.2:c.829T>C	NP_001339753.1:p.Trp277Arg
NR_109778.2:n.1261T>C