Canonical Allele Identifier: CA351413122

Gene: D2HGDH

Linked Data

• dbSNP Id: rs752967377
• gnomAD v4: 2-241767792-G-T
• MyVariant Identifiers: chr2:g.242707207G>T (hg19) ; chr2:g.241767792G>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767792G>T , CM000664.2:g.241767792G>T	GRCh38
NC_000002.11:g.242707207G>T , CM000664.1:g.242707207G>T	GRCh37
NC_000002.10:g.242355880G>T	NCBI36
NG_012012.1:g.38178G>T

Transcript Alleles

HGVS	Amino-acid change
ENST00000321264.9:c.1389G>T MANE Select	ENSP00000315351.4:p.Glu463Asp
ENST00000321264.8:c.1389G>T	ENSP00000315351.4:p.Glu463Asp
ENST00000400769.6:c.*139G>T	ENSP00000383580.2:n.*139G>T
ENST00000403782.5:c.987G>T	ENSP00000384723.1:p.Glu329Asp
ENST00000436747.5:c.*2625G>T	ENSP00000400212.1:n.*2625G>T
ENST00000445308.1:c.785G>T
ENST00000468064.5:n.1279G>T
ENST00000470343.5:n.870G>T
ENST00000473126.1:n.588G>T
ENST00000486953.5:n.1213G>T
ENST00000610344.1:c.*233G>T	ENSP00000481906.1:n.*233G>T
NM_001287249.1:c.987G>T	NP_001274178.1:p.Glu329Asp
NM_152783.4:c.1389G>T	NP_689996.4:p.Glu463Asp
NR_109778.1:n.1311G>T
XM_011511734.1:c.1509G>T	XP_011510036.1:p.Glu503Asp
XM_011511735.1:c.1467G>T	XP_011510037.1:p.Glu489Asp
XM_011511736.1:c.1431G>T	XP_011510038.1:p.Glu477Asp
XM_011511744.1:c.*121G>T	XP_011510046.1:n.*121G>T
XM_011511750.1:c.*56G>T	XP_011510052.1:n.*56G>T
XM_011511754.1:c.948G>T	XP_011510056.1:p.Glu316Asp
XM_011511755.1:c.939G>T	XP_011510057.1:p.Glu313Asp
XM_011511756.1:c.936G>T	XP_011510058.1:p.Glu312Asp
XR_923004.1:n.2021G>T
XR_923007.1:n.1731G>T
XR_923011.1:n.1832G>T
NM_001352824.1:c.828G>T	NP_001339753.1:p.Glu276Asp
XM_011511734.2:c.1509G>T	XP_011510036.1:p.Glu503Asp
XM_011511735.2:c.1467G>T	XP_011510037.1:p.Glu489Asp
XM_011511736.2:c.1431G>T	XP_011510038.1:p.Glu477Asp
XM_011511750.3:c.*56G>T	XP_011510052.1:n.*56G>T
XM_011511756.2:c.936G>T	XP_011510058.1:p.Glu312Asp
XM_024453102.1:c.1281G>T	XP_024308870.1:p.Glu427Asp
XR_001738918.2:n.1763G>T
XR_001738919.2:n.1697G>T
XR_923004.3:n.2020G>T
XR_923007.3:n.1730G>T
XR_923011.3:n.1831G>T
NM_152783.5:c.1389G>T MANE Select	NP_689996.4:p.Glu463Asp
NM_001287249.2:c.987G>T	NP_001274178.1:p.Glu329Asp
NM_001352824.2:c.828G>T	NP_001339753.1:p.Glu276Asp
NR_109778.2:n.1260G>T