Canonical Allele Identifier: CA359340717

Gene: PDZD2

Linked Data

• gnomAD v4: 5-32000194-G-A
• COSMIC: COSM482711
• MyVariant Identifiers: chr5:g.32000300G>A (hg19) ; chr5:g.32000194G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.32000194G>A , CM000667.2:g.32000194G>A	GRCh38
NC_000005.9:g.32000300G>A , CM000667.1:g.32000300G>A	GRCh37
NC_000005.8:g.32036057G>A	NCBI36
NG_033962.1:g.206271G>A
NG_033962.2:g.365785G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000438447.2:c.1177G>A MANE Select	ENSP00000402033.1:p.Val393Ile
ENST00000438447.1:c.1177G>A	ENSP00000402033.1:p.Val393Ile
ENST00000502489.5:n.933G>A
NM_178140.2:c.1177G>A	NP_835260.2:p.Val393Ile
XM_005248269.3:c.1177G>A	XP_005248326.1:p.Val393Ile
XM_005248270.3:c.1177G>A	XP_005248327.1:p.Val393Ile
XM_005248271.1:c.655G>A	XP_005248328.1:p.Val219Ile
XM_005248272.3:c.655G>A	XP_005248329.1:p.Val219Ile
XM_006714460.2:c.184G>A	XP_006714523.1:p.Val62Ile
XM_011513992.1:c.1177G>A	XP_011512294.1:p.Val393Ile
XM_011513993.1:c.1177G>A	XP_011512295.1:p.Val393Ile
XM_011513994.1:c.1177G>A	XP_011512296.1:p.Val393Ile
XM_011513995.1:c.1177G>A	XP_011512297.1:p.Val393Ile
XM_011513996.1:c.979-10136G>A	XP_011512298.1:n.979-10136G>A
XM_011513997.1:c.1177G>A	XP_011512299.1:p.Val393Ile
NM_178140.3:c.1177G>A	NP_835260.2:p.Val393Ile
XM_005248269.4:c.1177G>A	XP_005248326.1:p.Val393Ile
XM_005248272.4:c.655G>A	XP_005248329.1:p.Val219Ile
XM_011513992.2:c.1177G>A	XP_011512294.1:p.Val393Ile
XM_011513993.2:c.1177G>A	XP_011512295.1:p.Val393Ile
XM_011513994.2:c.1177G>A	XP_011512296.1:p.Val393Ile
XM_011513995.2:c.1177G>A	XP_011512297.1:p.Val393Ile
XM_011513996.2:c.979-10136G>A	XP_011512298.1:n.979-10136G>A
XM_017009245.1:c.457-10136G>A	XP_016864734.1:n.457-10136G>A
XM_017009246.1:c.184G>A	XP_016864735.1:p.Val62Ile
NM_178140.4:c.1177G>A MANE Select	NP_835260.2:p.Val393Ile