Canonical Allele Identifier: CA115832518
Gene: PDZD2 HGNC NCBI

Linked Data

dbSNP Id: rs924458361
gnomAD v2: 5-32000521-C-T
gnomAD v3: 5-32000415-C-T
gnomAD v4: 5-32000415-C-T

Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.32000415C>T , CM000667.2:g.32000415C>T GRCh38
NC_000005.9:g.32000521C>T , CM000667.1:g.32000521C>T GRCh37
NC_000005.8:g.32036278C>T NCBI36
NG_033962.1:g.206492C>T
NG_033962.2:g.366006C>T

Transcript Alleles

HGVS Amino-acid change
ENST00000438447.2:c.1254+144C>T MANE Select ENSP00000402033.1:n.1254+144C>T
ENST00000438447.1:c.1254+144C>T ENSP00000402033.1:n.1254+144C>T
ENST00000502489.5:n.1010+144C>T
NM_178140.2:c.1254+144C>T NP_835260.2:n.1254+144C>T
XM_005248269.3:c.1254+144C>T XP_005248326.1:n.1254+144C>T
XM_005248270.3:c.1254+144C>T XP_005248327.1:n.1254+144C>T
XM_005248271.1:c.732+144C>T XP_005248328.1:n.732+144C>T
XM_005248272.3:c.732+144C>T XP_005248329.1:n.732+144C>T
XM_006714460.2:c.261+144C>T XP_006714523.1:n.261+144C>T
XM_011513992.1:c.1254+144C>T XP_011512294.1:n.1254+144C>T
XM_011513993.1:c.1254+144C>T XP_011512295.1:n.1254+144C>T
XM_011513994.1:c.1254+144C>T XP_011512296.1:n.1254+144C>T
XM_011513995.1:c.1254+144C>T XP_011512297.1:n.1254+144C>T
XM_011513996.1:c.979-9915C>T XP_011512298.1:n.979-9915C>T
XM_011513997.1:c.1254+144C>T XP_011512299.1:n.1254+144C>T
NM_178140.3:c.1254+144C>T NP_835260.2:n.1254+144C>T
XM_005248269.4:c.1254+144C>T XP_005248326.1:n.1254+144C>T
XM_005248272.4:c.732+144C>T XP_005248329.1:n.732+144C>T
XM_011513992.2:c.1254+144C>T XP_011512294.1:n.1254+144C>T
XM_011513993.2:c.1254+144C>T XP_011512295.1:n.1254+144C>T
XM_011513994.2:c.1254+144C>T XP_011512296.1:n.1254+144C>T
XM_011513995.2:c.1254+144C>T XP_011512297.1:n.1254+144C>T
XM_011513996.2:c.979-9915C>T XP_011512298.1:n.979-9915C>T
XM_017009245.1:c.457-9915C>T XP_016864734.1:n.457-9915C>T
XM_017009246.1:c.261+144C>T XP_016864735.1:n.261+144C>T
NM_178140.4:c.1254+144C>T MANE Select NP_835260.2:n.1254+144C>T