Canonical Allele Identifier: CA359340797

Gene: PDZD2

Linked Data

• MyVariant Identifiers: chr5:g.32000319A>C (hg19) ; chr5:g.32000213A>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.32000213A>C , CM000667.2:g.32000213A>C	GRCh38
NC_000005.9:g.32000319A>C , CM000667.1:g.32000319A>C	GRCh37
NC_000005.8:g.32036076A>C	NCBI36
NG_033962.1:g.206290A>C
NG_033962.2:g.365804A>C

Transcript Alleles

HGVS	Amino-acid change
ENST00000438447.2:c.1196A>C MANE Select	ENSP00000402033.1:p.Glu399Ala
ENST00000438447.1:c.1196A>C	ENSP00000402033.1:p.Glu399Ala
ENST00000502489.5:n.952A>C
NM_178140.2:c.1196A>C	NP_835260.2:p.Glu399Ala
XM_005248269.3:c.1196A>C	XP_005248326.1:p.Glu399Ala
XM_005248270.3:c.1196A>C	XP_005248327.1:p.Glu399Ala
XM_005248271.1:c.674A>C	XP_005248328.1:p.Glu225Ala
XM_005248272.3:c.674A>C	XP_005248329.1:p.Glu225Ala
XM_006714460.2:c.203A>C	XP_006714523.1:p.Glu68Ala
XM_011513992.1:c.1196A>C	XP_011512294.1:p.Glu399Ala
XM_011513993.1:c.1196A>C	XP_011512295.1:p.Glu399Ala
XM_011513994.1:c.1196A>C	XP_011512296.1:p.Glu399Ala
XM_011513995.1:c.1196A>C	XP_011512297.1:p.Glu399Ala
XM_011513996.1:c.979-10117A>C	XP_011512298.1:n.979-10117A>C
XM_011513997.1:c.1196A>C	XP_011512299.1:p.Glu399Ala
NM_178140.3:c.1196A>C	NP_835260.2:p.Glu399Ala
XM_005248269.4:c.1196A>C	XP_005248326.1:p.Glu399Ala
XM_005248272.4:c.674A>C	XP_005248329.1:p.Glu225Ala
XM_011513992.2:c.1196A>C	XP_011512294.1:p.Glu399Ala
XM_011513993.2:c.1196A>C	XP_011512295.1:p.Glu399Ala
XM_011513994.2:c.1196A>C	XP_011512296.1:p.Glu399Ala
XM_011513995.2:c.1196A>C	XP_011512297.1:p.Glu399Ala
XM_011513996.2:c.979-10117A>C	XP_011512298.1:n.979-10117A>C
XM_017009245.1:c.457-10117A>C	XP_016864734.1:n.457-10117A>C
XM_017009246.1:c.203A>C	XP_016864735.1:p.Glu68Ala
NM_178140.4:c.1196A>C MANE Select	NP_835260.2:p.Glu399Ala