Canonical Allele Identifier: CA917445597
Gene: PDZD2 HGNC NCBI

Linked Data

dbSNP Id: rs1561305351

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.32000291_32000292insC , CM000667.2:g.32000291_32000292insC GRCh38
NC_000005.9:g.32000397_32000398insC , CM000667.1:g.32000397_32000398insC GRCh37
NC_000005.8:g.32036154_32036155insC NCBI36
NG_033962.1:g.206368_206369insC
NG_033962.2:g.365882_365883insC

Transcript Alleles

HGVS Amino-acid change
ENST00000438447.2:c.1254+20_1254+21insC MANE Select ENSP00000402033.1:n.1254+20_1254+21insC
ENST00000438447.1:c.1254+20_1254+21insC ENSP00000402033.1:n.1254+20_1254+21insC
ENST00000502489.5:n.1010+20_1010+21insC
NM_178140.2:c.1254+20_1254+21insC NP_835260.2:n.1254+20_1254+21insC
XM_005248269.3:c.1254+20_1254+21insC XP_005248326.1:n.1254+20_1254+21insC
XM_005248270.3:c.1254+20_1254+21insC XP_005248327.1:n.1254+20_1254+21insC
XM_005248271.1:c.732+20_732+21insC XP_005248328.1:n.732+20_732+21insC
XM_005248272.3:c.732+20_732+21insC XP_005248329.1:n.732+20_732+21insC
XM_006714460.2:c.261+20_261+21insC XP_006714523.1:n.261+20_261+21insC
XM_011513992.1:c.1254+20_1254+21insC XP_011512294.1:n.1254+20_1254+21insC
XM_011513993.1:c.1254+20_1254+21insC XP_011512295.1:n.1254+20_1254+21insC
XM_011513994.1:c.1254+20_1254+21insC XP_011512296.1:n.1254+20_1254+21insC
XM_011513995.1:c.1254+20_1254+21insC XP_011512297.1:n.1254+20_1254+21insC
XM_011513996.1:c.979-10039_979-10038insC XP_011512298.1:n.979-10039_979-10038insC
XM_011513997.1:c.1254+20_1254+21insC XP_011512299.1:n.1254+20_1254+21insC
NM_178140.3:c.1254+20_1254+21insC NP_835260.2:n.1254+20_1254+21insC
XM_005248269.4:c.1254+20_1254+21insC XP_005248326.1:n.1254+20_1254+21insC
XM_005248272.4:c.732+20_732+21insC XP_005248329.1:n.732+20_732+21insC
XM_011513992.2:c.1254+20_1254+21insC XP_011512294.1:n.1254+20_1254+21insC
XM_011513993.2:c.1254+20_1254+21insC XP_011512295.1:n.1254+20_1254+21insC
XM_011513994.2:c.1254+20_1254+21insC XP_011512296.1:n.1254+20_1254+21insC
XM_011513995.2:c.1254+20_1254+21insC XP_011512297.1:n.1254+20_1254+21insC
XM_011513996.2:c.979-10039_979-10038insC XP_011512298.1:n.979-10039_979-10038insC
XM_017009245.1:c.457-10039_457-10038insC XP_016864734.1:n.457-10039_457-10038insC
XM_017009246.1:c.261+20_261+21insC XP_016864735.1:n.261+20_261+21insC
NM_178140.4:c.1254+20_1254+21insC MANE Select NP_835260.2:n.1254+20_1254+21insC