Canonical Allele Identifier: CA3218769

Gene: PDZD2

Linked Data

• dbSNP Id: rs774267036
• ExAC: 5:32000291 C / T
• gnomAD v2: 5-32000291-C-T
• gnomAD v3: 5-32000185-C-T
• gnomAD v4: 5-32000185-C-T
• MyVariant Identifiers: chr5:g.32000291C>T (hg19) ; chr5:g.32000185C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.32000185C>T , CM000667.2:g.32000185C>T	GRCh38
NC_000005.9:g.32000291C>T , CM000667.1:g.32000291C>T	GRCh37
NC_000005.8:g.32036048C>T	NCBI36
NG_033962.1:g.206262C>T
NG_033962.2:g.365776C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438447.2:c.1168C>T MANE Select	ENSP00000402033.1:p.His390Tyr
ENST00000438447.1:c.1168C>T	ENSP00000402033.1:p.His390Tyr
ENST00000502489.5:n.924C>T
NM_178140.2:c.1168C>T	NP_835260.2:p.His390Tyr
XM_005248269.3:c.1168C>T	XP_005248326.1:p.His390Tyr
XM_005248270.3:c.1168C>T	XP_005248327.1:p.His390Tyr
XM_005248271.1:c.646C>T	XP_005248328.1:p.His216Tyr
XM_005248272.3:c.646C>T	XP_005248329.1:p.His216Tyr
XM_006714460.2:c.175C>T	XP_006714523.1:p.His59Tyr
XM_011513992.1:c.1168C>T	XP_011512294.1:p.His390Tyr
XM_011513993.1:c.1168C>T	XP_011512295.1:p.His390Tyr
XM_011513994.1:c.1168C>T	XP_011512296.1:p.His390Tyr
XM_011513995.1:c.1168C>T	XP_011512297.1:p.His390Tyr
XM_011513996.1:c.979-10145C>T	XP_011512298.1:n.979-10145C>T
XM_011513997.1:c.1168C>T	XP_011512299.1:p.His390Tyr
NM_178140.3:c.1168C>T	NP_835260.2:p.His390Tyr
XM_005248269.4:c.1168C>T	XP_005248326.1:p.His390Tyr
XM_005248272.4:c.646C>T	XP_005248329.1:p.His216Tyr
XM_011513992.2:c.1168C>T	XP_011512294.1:p.His390Tyr
XM_011513993.2:c.1168C>T	XP_011512295.1:p.His390Tyr
XM_011513994.2:c.1168C>T	XP_011512296.1:p.His390Tyr
XM_011513995.2:c.1168C>T	XP_011512297.1:p.His390Tyr
XM_011513996.2:c.979-10145C>T	XP_011512298.1:n.979-10145C>T
XM_017009245.1:c.457-10145C>T	XP_016864734.1:n.457-10145C>T
XM_017009246.1:c.175C>T	XP_016864735.1:p.His59Tyr
NM_178140.4:c.1168C>T MANE Select	NP_835260.2:p.His390Tyr