Canonical Allele Identifier: CA2222225

Gene: D2HGDH

Linked Data

• dbSNP Id: rs757252082
• ExAC: 2:242707220 C / A
• gnomAD v2: 2-242707220-C-A
• gnomAD v3: 2-241767805-C-A
• gnomAD v4: 2-241767805-C-A
• MyVariant Identifiers: chr2:g.242707220C>A (hg19) ; chr2:g.241767805C>A (hg38)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000321264.9:c.1402C>A MANE Select	ENSP00000315351.4:p.Gln468Lys
ENST00000321264.8:c.1402C>A	ENSP00000315351.4:p.Gln468Lys
ENST00000400769.6:c.*152C>A	ENSP00000383580.2:n.*152C>A
ENST00000403782.5:c.1000C>A	ENSP00000384723.1:p.Gln334Lys
ENST00000436747.5:c.*2638C>A	ENSP00000400212.1:n.*2638C>A
ENST00000445308.1:c.798C>A
ENST00000468064.5:n.1292C>A
ENST00000470343.5:n.883C>A
ENST00000473126.1:n.601C>A
ENST00000486953.5:n.1226C>A
ENST00000610344.1:c.*246C>A	ENSP00000481906.1:n.*246C>A
NM_001287249.1:c.1000C>A	NP_001274178.1:p.Gln334Lys
NM_152783.4:c.1402C>A	NP_689996.4:p.Gln468Lys
NR_109778.1:n.1324C>A
XM_011511734.1:c.1522C>A	XP_011510036.1:p.Gln508Lys
XM_011511735.1:c.1480C>A	XP_011510037.1:p.Gln494Lys
XM_011511736.1:c.1444C>A	XP_011510038.1:p.Gln482Lys
XM_011511750.1:c.*69C>A	XP_011510052.1:n.*69C>A
XM_011511754.1:c.961C>A	XP_011510056.1:p.Gln321Lys
XM_011511755.1:c.952C>A	XP_011510057.1:p.Gln318Lys
XM_011511756.1:c.949C>A	XP_011510058.1:p.Gln317Lys
XR_923004.1:n.2034C>A
XR_923007.1:n.1744C>A
XR_923011.1:n.1845C>A
NM_001352824.1:c.841C>A	NP_001339753.1:p.Gln281Lys
XM_011511734.2:c.1522C>A	XP_011510036.1:p.Gln508Lys
XM_011511735.2:c.1480C>A	XP_011510037.1:p.Gln494Lys
XM_011511736.2:c.1444C>A	XP_011510038.1:p.Gln482Lys
XM_011511750.3:c.*69C>A	XP_011510052.1:n.*69C>A
XM_011511756.2:c.949C>A	XP_011510058.1:p.Gln317Lys
XM_024453102.1:c.1294C>A	XP_024308870.1:p.Gln432Lys
XR_001738918.2:n.1776C>A
XR_001738919.2:n.1710C>A
XR_923004.3:n.2033C>A
XR_923007.3:n.1743C>A
XR_923011.3:n.1844C>A
NM_152783.5:c.1402C>A MANE Select	NP_689996.4:p.Gln468Lys
NM_001287249.2:c.1000C>A	NP_001274178.1:p.Gln334Lys
NM_001352824.2:c.841C>A	NP_001339753.1:p.Gln281Lys
NR_109778.2:n.1273C>A