Canonical Allele Identifier: CA432079068

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241767771-C-T
• MyVariant Identifiers: chr2:g.242707186C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767771C>T , CM000664.2:g.241767771C>T	GRCh38
NC_000002.11:g.242707186C>T , CM000664.1:g.242707186C>T	GRCh37
NC_000002.10:g.242355859C>T	NCBI36
NG_012012.1:g.38157C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1368C>T MANE Select	ENSP00000315351.4:p.Ala456=
ENST00000321264.8:c.1368C>T	ENSP00000315351.4:p.Ala456=
ENST00000400769.6:c.*118C>T	ENSP00000383580.2:n.*118C>T
ENST00000403782.5:c.966C>T	ENSP00000384723.1:p.Ala322=
ENST00000436747.5:c.*2604C>T	ENSP00000400212.1:n.*2604C>T
ENST00000445308.1:c.764C>T
ENST00000468064.5:n.1258C>T
ENST00000470343.5:n.849C>T
ENST00000473126.1:n.567C>T
ENST00000486953.5:n.1192C>T
ENST00000610344.1:c.*212C>T	ENSP00000481906.1:n.*212C>T
NM_001287249.1:c.966C>T	NP_001274178.1:p.Ala322=
NM_152783.4:c.1368C>T	NP_689996.4:p.Ala456=
NR_109778.1:n.1290C>T
XM_011511734.1:c.1488C>T	XP_011510036.1:p.Ala496=
XM_011511735.1:c.1446C>T	XP_011510037.1:p.Ala482=
XM_011511736.1:c.1410C>T	XP_011510038.1:p.Ala470=
XM_011511744.1:c.*100C>T	XP_011510046.1:n.*100C>T
XM_011511750.1:c.*35C>T	XP_011510052.1:n.*35C>T
XM_011511754.1:c.927C>T	XP_011510056.1:p.Ala309=
XM_011511755.1:c.918C>T	XP_011510057.1:p.Ala306=
XM_011511756.1:c.915C>T	XP_011510058.1:p.Ala305=
XR_923004.1:n.2000C>T
XR_923007.1:n.1710C>T
XR_923011.1:n.1811C>T
NM_001352824.1:c.807C>T	NP_001339753.1:p.Ala269=
XM_011511734.2:c.1488C>T	XP_011510036.1:p.Ala496=
XM_011511735.2:c.1446C>T	XP_011510037.1:p.Ala482=
XM_011511736.2:c.1410C>T	XP_011510038.1:p.Ala470=
XM_011511744.2:c.*100C>T	XP_011510046.1:n.*100C>T
XM_011511750.3:c.*35C>T	XP_011510052.1:n.*35C>T
XM_011511756.2:c.915C>T	XP_011510058.1:p.Ala305=
XM_024453102.1:c.1260C>T	XP_024308870.1:p.Ala420=
XR_001738918.2:n.1742C>T
XR_001738919.2:n.1676C>T
XR_923004.3:n.1999C>T
XR_923007.3:n.1709C>T
XR_923011.3:n.1810C>T
NM_152783.5:c.1368C>T MANE Select	NP_689996.4:p.Ala456=
NM_001287249.2:c.966C>T	NP_001274178.1:p.Ala322=
NM_001352824.2:c.807C>T	NP_001339753.1:p.Ala269=
NR_109778.2:n.1239C>T