Canonical Allele Identifier: CA359340599

Gene: PDZD2

Linked Data

• gnomAD v4: 5-32000147-G-A
• MyVariant Identifiers: chr5:g.32000253G>A (hg19) ; chr5:g.32000147G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.32000147G>A , CM000667.2:g.32000147G>A	GRCh38
NC_000005.9:g.32000253G>A , CM000667.1:g.32000253G>A	GRCh37
NC_000005.8:g.32036010G>A	NCBI36
NG_033962.1:g.206224G>A
NG_033962.2:g.365738G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438447.2:c.1130G>A MANE Select	ENSP00000402033.1:p.Arg377Lys
ENST00000438447.1:c.1130G>A	ENSP00000402033.1:p.Arg377Lys
ENST00000502489.5:n.886G>A
NM_178140.2:c.1130G>A	NP_835260.2:p.Arg377Lys
XM_005248269.3:c.1130G>A	XP_005248326.1:p.Arg377Lys
XM_005248270.3:c.1130G>A	XP_005248327.1:p.Arg377Lys
XM_005248271.1:c.608G>A	XP_005248328.1:p.Arg203Lys
XM_005248272.3:c.608G>A	XP_005248329.1:p.Arg203Lys
XM_006714460.2:c.137G>A	XP_006714523.1:p.Arg46Lys
XM_011513992.1:c.1130G>A	XP_011512294.1:p.Arg377Lys
XM_011513993.1:c.1130G>A	XP_011512295.1:p.Arg377Lys
XM_011513994.1:c.1130G>A	XP_011512296.1:p.Arg377Lys
XM_011513995.1:c.1130G>A	XP_011512297.1:p.Arg377Lys
XM_011513996.1:c.979-10183G>A	XP_011512298.1:n.979-10183G>A
XM_011513997.1:c.1130G>A	XP_011512299.1:p.Arg377Lys
NM_178140.3:c.1130G>A	NP_835260.2:p.Arg377Lys
XM_005248269.4:c.1130G>A	XP_005248326.1:p.Arg377Lys
XM_005248272.4:c.608G>A	XP_005248329.1:p.Arg203Lys
XM_011513992.2:c.1130G>A	XP_011512294.1:p.Arg377Lys
XM_011513993.2:c.1130G>A	XP_011512295.1:p.Arg377Lys
XM_011513994.2:c.1130G>A	XP_011512296.1:p.Arg377Lys
XM_011513995.2:c.1130G>A	XP_011512297.1:p.Arg377Lys
XM_011513996.2:c.979-10183G>A	XP_011512298.1:n.979-10183G>A
XM_017009245.1:c.457-10183G>A	XP_016864734.1:n.457-10183G>A
XM_017009246.1:c.137G>A	XP_016864735.1:p.Arg46Lys
NM_178140.4:c.1130G>A MANE Select	NP_835260.2:p.Arg377Lys