Canonical Allele Identifier: CA116750378
Gene: PDZD2 HGNC NCBI

Linked Data

dbSNP Id: rs11957407
gnomAD v2: 5-31917242-G-A
gnomAD v3: 5-31917136-G-A
gnomAD v4: 5-31917136-G-A
MyVariant Identifiers: chr5:g.31917242G>A (hg19) chr5:g.31917136G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000005.10:g.31917136G>A , CM000667.2:g.31917136G>A GRCh38
NC_000005.9:g.31917242G>A , CM000667.1:g.31917242G>A GRCh37
NC_000005.8:g.31952999G>A NCBI36
NG_033962.1:g.123213G>A
NG_033962.2:g.282727G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000438447.2:c.477-66019G>A MANE Select ENSP00000402033.1:n.477-66019G>A
ENST00000438447.1:c.477-66019G>A ENSP00000402033.1:n.477-66019G>A
ENST00000502489.5:n.232+61968G>A
NM_178140.2:c.477-66019G>A NP_835260.2:n.477-66019G>A
XM_005248269.3:c.477-66019G>A XP_005248326.1:n.477-66019G>A
XM_005248270.3:c.477-66019G>A XP_005248327.1:n.477-66019G>A
XM_005248271.1:c.-47+61968G>A XP_005248328.1:n.-47+61968G>A
XM_006714460.2:c.-438+61968G>A XP_006714523.1:n.-438+61968G>A
XM_011513992.1:c.477-66019G>A XP_011512294.1:n.477-66019G>A
XM_011513993.1:c.477-66019G>A XP_011512295.1:n.477-66019G>A
XM_011513994.1:c.477-66019G>A XP_011512296.1:n.477-66019G>A
XM_011513995.1:c.477-66019G>A XP_011512297.1:n.477-66019G>A
XM_011513996.1:c.477-66019G>A XP_011512298.1:n.477-66019G>A
XM_011513997.1:c.477-66019G>A XP_011512299.1:n.477-66019G>A
NM_178140.3:c.477-66019G>A NP_835260.2:n.477-66019G>A
XM_005248269.4:c.477-66019G>A XP_005248326.1:n.477-66019G>A
XM_011513992.2:c.477-66019G>A XP_011512294.1:n.477-66019G>A
XM_011513993.2:c.477-66019G>A XP_011512295.1:n.477-66019G>A
XM_011513994.2:c.477-66019G>A XP_011512296.1:n.477-66019G>A
XM_011513995.2:c.477-66019G>A XP_011512297.1:n.477-66019G>A
XM_011513996.2:c.477-66019G>A XP_011512298.1:n.477-66019G>A
XM_017009245.1:c.-47+61968G>A XP_016864734.1:n.-47+61968G>A
XM_017009246.1:c.-437-66019G>A XP_016864735.1:n.-437-66019G>A
NM_178140.4:c.477-66019G>A MANE Select NP_835260.2:n.477-66019G>A
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