Canonical Allele Identifier: CA1537258722
Gene: PDZD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.31927211A>C , CM000667.2:g.31927211A>C GRCh38
NC_000005.9:g.31927317A>C , CM000667.1:g.31927317A>C GRCh37
NC_000005.8:g.31963074A>C NCBI36
NG_033962.1:g.133288A>C
NG_033962.2:g.292802A>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000438447.2:c.477-55944A>C MANE Select ENSP00000402033.1:n.477-55944A>C
ENST00000438447.1:c.477-55944A>C ENSP00000402033.1:n.477-55944A>C
ENST00000502489.5:n.233-55944A>C
NM_178140.2:c.477-55944A>C NP_835260.2:n.477-55944A>C
XM_005248269.3:c.477-55944A>C XP_005248326.1:n.477-55944A>C
XM_005248270.3:c.477-55944A>C XP_005248327.1:n.477-55944A>C
XM_005248271.1:c.-46-55944A>C XP_005248328.1:n.-46-55944A>C
XM_006714460.2:c.-437-55944A>C XP_006714523.1:n.-437-55944A>C
XM_011513992.1:c.477-55944A>C XP_011512294.1:n.477-55944A>C
XM_011513993.1:c.477-55944A>C XP_011512295.1:n.477-55944A>C
XM_011513994.1:c.477-55944A>C XP_011512296.1:n.477-55944A>C
XM_011513995.1:c.477-55944A>C XP_011512297.1:n.477-55944A>C
XM_011513996.1:c.477-55944A>C XP_011512298.1:n.477-55944A>C
XM_011513997.1:c.477-55944A>C XP_011512299.1:n.477-55944A>C
NM_178140.3:c.477-55944A>C NP_835260.2:n.477-55944A>C
XM_005248269.4:c.477-55944A>C XP_005248326.1:n.477-55944A>C
XM_011513992.2:c.477-55944A>C XP_011512294.1:n.477-55944A>C
XM_011513993.2:c.477-55944A>C XP_011512295.1:n.477-55944A>C
XM_011513994.2:c.477-55944A>C XP_011512296.1:n.477-55944A>C
XM_011513995.2:c.477-55944A>C XP_011512297.1:n.477-55944A>C
XM_011513996.2:c.477-55944A>C XP_011512298.1:n.477-55944A>C
XM_017009245.1:c.-46-55944A>C XP_016864734.1:n.-46-55944A>C
XM_017009246.1:c.-437-55944A>C XP_016864735.1:n.-437-55944A>C
NM_178140.4:c.477-55944A>C MANE Select NP_835260.2:n.477-55944A>C