Canonical Allele Identifier: CA359340965

Gene: PDZD2

Linked Data

• COSMIC: COSM4159846
• MyVariant Identifiers: chr5:g.32000360C>A (hg19) ; chr5:g.32000254C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.32000254C>A , CM000667.2:g.32000254C>A	GRCh38
NC_000005.9:g.32000360C>A , CM000667.1:g.32000360C>A	GRCh37
NC_000005.8:g.32036117C>A	NCBI36
NG_033962.1:g.206331C>A
NG_033962.2:g.365845C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438447.2:c.1237C>A MANE Select	ENSP00000402033.1:p.Leu413Ile
ENST00000438447.1:c.1237C>A	ENSP00000402033.1:p.Leu413Ile
ENST00000502489.5:n.993C>A
NM_178140.2:c.1237C>A	NP_835260.2:p.Leu413Ile
XM_005248269.3:c.1237C>A	XP_005248326.1:p.Leu413Ile
XM_005248270.3:c.1237C>A	XP_005248327.1:p.Leu413Ile
XM_005248271.1:c.715C>A	XP_005248328.1:p.Leu239Ile
XM_005248272.3:c.715C>A	XP_005248329.1:p.Leu239Ile
XM_006714460.2:c.244C>A	XP_006714523.1:p.Leu82Ile
XM_011513992.1:c.1237C>A	XP_011512294.1:p.Leu413Ile
XM_011513993.1:c.1237C>A	XP_011512295.1:p.Leu413Ile
XM_011513994.1:c.1237C>A	XP_011512296.1:p.Leu413Ile
XM_011513995.1:c.1237C>A	XP_011512297.1:p.Leu413Ile
XM_011513996.1:c.979-10076C>A	XP_011512298.1:n.979-10076C>A
XM_011513997.1:c.1237C>A	XP_011512299.1:p.Leu413Ile
NM_178140.3:c.1237C>A	NP_835260.2:p.Leu413Ile
XM_005248269.4:c.1237C>A	XP_005248326.1:p.Leu413Ile
XM_005248272.4:c.715C>A	XP_005248329.1:p.Leu239Ile
XM_011513992.2:c.1237C>A	XP_011512294.1:p.Leu413Ile
XM_011513993.2:c.1237C>A	XP_011512295.1:p.Leu413Ile
XM_011513994.2:c.1237C>A	XP_011512296.1:p.Leu413Ile
XM_011513995.2:c.1237C>A	XP_011512297.1:p.Leu413Ile
XM_011513996.2:c.979-10076C>A	XP_011512298.1:n.979-10076C>A
XM_017009245.1:c.457-10076C>A	XP_016864734.1:n.457-10076C>A
XM_017009246.1:c.244C>A	XP_016864735.1:p.Leu82Ile
NM_178140.4:c.1237C>A MANE Select	NP_835260.2:p.Leu413Ile