Canonical Allele Identifier: CA432079054

Gene: D2HGDH

Linked Data

• gnomAD v4: 2-241767762-C-T
• MyVariant Identifiers: chr2:g.242707177C>T (hg19)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.241767762C>T , CM000664.2:g.241767762C>T	GRCh38
NC_000002.11:g.242707177C>T , CM000664.1:g.242707177C>T	GRCh37
NC_000002.10:g.242355850C>T	NCBI36
NG_012012.1:g.38148C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1359C>T MANE Select	ENSP00000315351.4:p.Leu453=
ENST00000321264.8:c.1359C>T	ENSP00000315351.4:p.Leu453=
ENST00000400769.6:c.*109C>T	ENSP00000383580.2:n.*109C>T
ENST00000403782.5:c.957C>T	ENSP00000384723.1:p.Leu319=
ENST00000436747.5:c.*2595C>T	ENSP00000400212.1:n.*2595C>T
ENST00000445308.1:c.755C>T
ENST00000468064.5:n.1249C>T
ENST00000470343.5:n.840C>T
ENST00000473126.1:n.558C>T
ENST00000486953.5:n.1183C>T
ENST00000610344.1:c.*203C>T	ENSP00000481906.1:n.*203C>T
NM_001287249.1:c.957C>T	NP_001274178.1:p.Leu319=
NM_152783.4:c.1359C>T	NP_689996.4:p.Leu453=
NR_109778.1:n.1281C>T
XM_011511734.1:c.1479C>T	XP_011510036.1:p.Leu493=
XM_011511735.1:c.1437C>T	XP_011510037.1:p.Leu479=
XM_011511736.1:c.1401C>T	XP_011510038.1:p.Leu467=
XM_011511744.1:c.*91C>T	XP_011510046.1:n.*91C>T
XM_011511750.1:c.*26C>T	XP_011510052.1:n.*26C>T
XM_011511754.1:c.918C>T	XP_011510056.1:p.Leu306=
XM_011511755.1:c.909C>T	XP_011510057.1:p.Leu303=
XM_011511756.1:c.906C>T	XP_011510058.1:p.Leu302=
XR_923004.1:n.1991C>T
XR_923007.1:n.1701C>T
XR_923011.1:n.1802C>T
NM_001352824.1:c.798C>T	NP_001339753.1:p.Leu266=
XM_011511734.2:c.1479C>T	XP_011510036.1:p.Leu493=
XM_011511735.2:c.1437C>T	XP_011510037.1:p.Leu479=
XM_011511736.2:c.1401C>T	XP_011510038.1:p.Leu467=
XM_011511744.2:c.*91C>T	XP_011510046.1:n.*91C>T
XM_011511750.3:c.*26C>T	XP_011510052.1:n.*26C>T
XM_011511756.2:c.906C>T	XP_011510058.1:p.Leu302=
XM_024453102.1:c.1251C>T	XP_024308870.1:p.Leu417=
XR_001738918.2:n.1733C>T
XR_001738919.2:n.1667C>T
XR_923004.3:n.1990C>T
XR_923007.3:n.1700C>T
XR_923011.3:n.1801C>T
NM_152783.5:c.1359C>T MANE Select	NP_689996.4:p.Leu453=
NM_001287249.2:c.957C>T	NP_001274178.1:p.Leu319=
NM_001352824.2:c.798C>T	NP_001339753.1:p.Leu266=
NR_109778.2:n.1230C>T