Canonical Allele Identifier: CA1537301246
Gene: PDZD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.32000612G= , CM000667.2:g.32000612G= GRCh38
NC_000005.9:g.32000718G= , CM000667.1:g.32000718G= GRCh37
NC_000005.8:g.32036475G= NCBI36
NG_033962.1:g.206689G=
NG_033962.2:g.366203G=

Transcript Alleles

HGVS Amino-acid Change
ENST00000438447.2:c.1254+341G= MANE Select ENSP00000402033.1:n.1254+341G=
ENST00000438447.1:c.1254+341G= ENSP00000402033.1:n.1254+341G=
ENST00000502489.5:n.1010+341G=
NM_178140.2:c.1254+341G= NP_835260.2:n.1254+341G=
XM_005248269.3:c.1254+341G= XP_005248326.1:n.1254+341G=
XM_005248270.3:c.1254+341G= XP_005248327.1:n.1254+341G=
XM_005248271.1:c.732+341G= XP_005248328.1:n.732+341G=
XM_005248272.3:c.732+341G= XP_005248329.1:n.732+341G=
XM_006714460.2:c.261+341G= XP_006714523.1:n.261+341G=
XM_011513992.1:c.1254+341G= XP_011512294.1:n.1254+341G=
XM_011513993.1:c.1254+341G= XP_011512295.1:n.1254+341G=
XM_011513994.1:c.1254+341G= XP_011512296.1:n.1254+341G=
XM_011513995.1:c.1254+341G= XP_011512297.1:n.1254+341G=
XM_011513996.1:c.979-9718G= XP_011512298.1:n.979-9718G=
XM_011513997.1:c.1254+341G= XP_011512299.1:n.1254+341G=
NM_178140.3:c.1254+341G= NP_835260.2:n.1254+341G=
XM_005248269.4:c.1254+341G= XP_005248326.1:n.1254+341G=
XM_005248272.4:c.732+341G= XP_005248329.1:n.732+341G=
XM_011513992.2:c.1254+341G= XP_011512294.1:n.1254+341G=
XM_011513993.2:c.1254+341G= XP_011512295.1:n.1254+341G=
XM_011513994.2:c.1254+341G= XP_011512296.1:n.1254+341G=
XM_011513995.2:c.1254+341G= XP_011512297.1:n.1254+341G=
XM_011513996.2:c.979-9718G= XP_011512298.1:n.979-9718G=
XM_017009245.1:c.457-9718G= XP_016864734.1:n.457-9718G=
XM_017009246.1:c.261+341G= XP_016864735.1:n.261+341G=
NM_178140.4:c.1254+341G= MANE Select NP_835260.2:n.1254+341G=