Canonical Allele Identifier: CA15179254

Gene: DGKD

Linked Data

• dbSNP Id: rs838705
• gnomAD v2: 2-234273242-G-A
• gnomAD v3: 2-233364596-G-A
• gnomAD v4: 2-233364596-G-A
• MyVariant Identifiers: chr2:g.234273242G>A (hg19) ; chr2:g.233364596G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000002.12:g.233364596G>A , CM000664.2:g.233364596G>A	GRCh38
NC_000002.11:g.234273242G>A , CM000664.1:g.234273242G>A	GRCh37
NC_000002.10:g.233937981G>A	NCBI36
NG_029495.1:g.15090G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000264057.7:c.156+9922G>A MANE Select	ENSP00000264057.2:n.156+9922G>A
ENST00000264057.6:c.156+9922G>A	ENSP00000264057.2:n.156+9922G>A
ENST00000427930.5:c.156+9922G>A	ENSP00000407938.1:n.156+9922G>A
ENST00000442524.4:c.103+9922G>A
NM_152879.2:c.156+9922G>A	NP_690618.2:n.156+9922G>A
XM_011512028.1:c.228+7273G>A	XP_011510330.1:n.228+7273G>A
XM_011512029.1:c.228+7273G>A	XP_011510331.1:n.228+7273G>A
XM_011512031.1:c.-19+1323G>A	XP_011510333.1:n.-19+1323G>A
XM_011512033.1:c.228+7273G>A	XP_011510335.1:n.228+7273G>A
XM_011512034.1:c.-357+7273G>A	XP_011510336.1:n.-357+7273G>A
XM_011512036.1:c.36+8937G>A	XP_011510338.1:n.36+8937G>A
XM_011512039.1:c.228+7273G>A	XP_011510341.1:n.228+7273G>A
XR_923050.1:n.453+7273G>A
XM_011512028.3:c.228+7273G>A	XP_011510330.1:n.228+7273G>A
XM_011512029.3:c.228+7273G>A	XP_011510331.1:n.228+7273G>A
XM_011512031.3:c.-19+1323G>A	XP_011510333.1:n.-19+1323G>A
XM_011512033.3:c.228+7273G>A	XP_011510335.1:n.228+7273G>A
XM_011512039.2:c.228+7273G>A	XP_011510341.1:n.228+7273G>A
XM_017005138.2:c.36+8937G>A	XP_016860627.1:n.36+8937G>A
XR_923050.2:n.1633+7273G>A
NM_152879.3:c.156+9922G>A MANE Select	NP_690618.2:n.156+9922G>A