Canonical Allele Identifier: CA351413147

Gene: D2HGDH

Linked Data

• MyVariant Identifiers: chr2:g.242707220C>T (hg19) ; chr2:g.241767805C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767805C>T , CM000664.2:g.241767805C>T	GRCh38
NC_000002.11:g.242707220C>T , CM000664.1:g.242707220C>T	GRCh37
NC_000002.10:g.242355893C>T	NCBI36
NG_012012.1:g.38191C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1402C>T MANE Select	ENSP00000315351.4:p.Gln468Ter
ENST00000321264.8:c.1402C>T	ENSP00000315351.4:p.Gln468Ter
ENST00000400769.6:c.*152C>T	ENSP00000383580.2:n.*152C>T
ENST00000403782.5:c.1000C>T	ENSP00000384723.1:p.Gln334Ter
ENST00000436747.5:c.*2638C>T	ENSP00000400212.1:n.*2638C>T
ENST00000445308.1:c.798C>T
ENST00000468064.5:n.1292C>T
ENST00000470343.5:n.883C>T
ENST00000473126.1:n.601C>T
ENST00000486953.5:n.1226C>T
ENST00000610344.1:c.*246C>T	ENSP00000481906.1:n.*246C>T
NM_001287249.1:c.1000C>T	NP_001274178.1:p.Gln334Ter
NM_152783.4:c.1402C>T	NP_689996.4:p.Gln468Ter
NR_109778.1:n.1324C>T
XM_011511734.1:c.1522C>T	XP_011510036.1:p.Gln508Ter
XM_011511735.1:c.1480C>T	XP_011510037.1:p.Gln494Ter
XM_011511736.1:c.1444C>T	XP_011510038.1:p.Gln482Ter
XM_011511750.1:c.*69C>T	XP_011510052.1:n.*69C>T
XM_011511754.1:c.961C>T	XP_011510056.1:p.Gln321Ter
XM_011511755.1:c.952C>T	XP_011510057.1:p.Gln318Ter
XM_011511756.1:c.949C>T	XP_011510058.1:p.Gln317Ter
XR_923004.1:n.2034C>T
XR_923007.1:n.1744C>T
XR_923011.1:n.1845C>T
NM_001352824.1:c.841C>T	NP_001339753.1:p.Gln281Ter
XM_011511734.2:c.1522C>T	XP_011510036.1:p.Gln508Ter
XM_011511735.2:c.1480C>T	XP_011510037.1:p.Gln494Ter
XM_011511736.2:c.1444C>T	XP_011510038.1:p.Gln482Ter
XM_011511750.3:c.*69C>T	XP_011510052.1:n.*69C>T
XM_011511756.2:c.949C>T	XP_011510058.1:p.Gln317Ter
XM_024453102.1:c.1294C>T	XP_024308870.1:p.Gln432Ter
XR_001738918.2:n.1776C>T
XR_001738919.2:n.1710C>T
XR_923004.3:n.2033C>T
XR_923007.3:n.1743C>T
XR_923011.3:n.1844C>T
NM_152783.5:c.1402C>T MANE Select	NP_689996.4:p.Gln468Ter
NM_001287249.2:c.1000C>T	NP_001274178.1:p.Gln334Ter
NM_001352824.2:c.841C>T	NP_001339753.1:p.Gln281Ter
NR_109778.2:n.1273C>T