Canonical Allele Identifier: CA1537300063
Gene: PDZD2 HGNC NCBI

Linked Data

dbSNP Id: rs1751961331

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.31999859_31999860dup , CM000667.2:g.31999859_31999860dup GRCh38
NC_000005.9:g.31999965_31999966dup , CM000667.1:g.31999965_31999966dup GRCh37
NC_000005.8:g.32035722_32035723dup NCBI36
NG_033962.1:g.205936_205937dup
NG_033962.2:g.365450_365451dup

Transcript Alleles

HGVS Amino-acid Change
ENST00000438447.2:c.1122-280_1122-279dup MANE Select ENSP00000402033.1:n.1122-280_1122-279dup
ENST00000438447.1:c.1122-280_1122-279dup ENSP00000402033.1:n.1122-280_1122-279dup
ENST00000502489.5:n.878-280_878-279dup
NM_178140.2:c.1122-280_1122-279dup NP_835260.2:n.1122-280_1122-279dup
XM_005248269.3:c.1122-280_1122-279dup XP_005248326.1:n.1122-280_1122-279dup
XM_005248270.3:c.1122-280_1122-279dup XP_005248327.1:n.1122-280_1122-279dup
XM_005248271.1:c.600-280_600-279dup XP_005248328.1:n.600-280_600-279dup
XM_005248272.3:c.600-280_600-279dup XP_005248329.1:n.600-280_600-279dup
XM_006714460.2:c.129-280_129-279dup XP_006714523.1:n.129-280_129-279dup
XM_011513992.1:c.1122-280_1122-279dup XP_011512294.1:n.1122-280_1122-279dup
XM_011513993.1:c.1122-280_1122-279dup XP_011512295.1:n.1122-280_1122-279dup
XM_011513994.1:c.1122-280_1122-279dup XP_011512296.1:n.1122-280_1122-279dup
XM_011513995.1:c.1122-280_1122-279dup XP_011512297.1:n.1122-280_1122-279dup
XM_011513996.1:c.979-10471_979-10470dup XP_011512298.1:n.979-10471_979-10470dup
XM_011513997.1:c.1122-280_1122-279dup XP_011512299.1:n.1122-280_1122-279dup
NM_178140.3:c.1122-280_1122-279dup NP_835260.2:n.1122-280_1122-279dup
XM_005248269.4:c.1122-280_1122-279dup XP_005248326.1:n.1122-280_1122-279dup
XM_005248272.4:c.600-280_600-279dup XP_005248329.1:n.600-280_600-279dup
XM_011513992.2:c.1122-280_1122-279dup XP_011512294.1:n.1122-280_1122-279dup
XM_011513993.2:c.1122-280_1122-279dup XP_011512295.1:n.1122-280_1122-279dup
XM_011513994.2:c.1122-280_1122-279dup XP_011512296.1:n.1122-280_1122-279dup
XM_011513995.2:c.1122-280_1122-279dup XP_011512297.1:n.1122-280_1122-279dup
XM_011513996.2:c.979-10471_979-10470dup XP_011512298.1:n.979-10471_979-10470dup
XM_017009245.1:c.457-10471_457-10470dup XP_016864734.1:n.457-10471_457-10470dup
XM_017009246.1:c.129-280_129-279dup XP_016864735.1:n.129-280_129-279dup
NM_178140.4:c.1122-280_1122-279dup MANE Select NP_835260.2:n.1122-280_1122-279dup