Canonical Allele Identifier: CA359340618

Gene: PDZD2

Linked Data

• dbSNP Id: rs1357144844
• gnomAD v2: 5-32000262-T-C
• gnomAD v3: 5-32000156-T-C
• gnomAD v4: 5-32000156-T-C
• COSMIC: COSM1437011
• MyVariant Identifiers: chr5:g.32000262T>C (hg19) ; chr5:g.32000156T>C (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000005.10:g.32000156T>C , CM000667.2:g.32000156T>C	GRCh38
NC_000005.9:g.32000262T>C , CM000667.1:g.32000262T>C	GRCh37
NC_000005.8:g.32036019T>C	NCBI36
NG_033962.1:g.206233T>C
NG_033962.2:g.365747T>C

Transcript Alleles

HGVS	Amino-acid Change
ENST00000438447.2:c.1139T>C MANE Select	ENSP00000402033.1:p.Leu380Ser
ENST00000438447.1:c.1139T>C	ENSP00000402033.1:p.Leu380Ser
ENST00000502489.5:n.895T>C
NM_178140.2:c.1139T>C	NP_835260.2:p.Leu380Ser
XM_005248269.3:c.1139T>C	XP_005248326.1:p.Leu380Ser
XM_005248270.3:c.1139T>C	XP_005248327.1:p.Leu380Ser
XM_005248271.1:c.617T>C	XP_005248328.1:p.Leu206Ser
XM_005248272.3:c.617T>C	XP_005248329.1:p.Leu206Ser
XM_006714460.2:c.146T>C	XP_006714523.1:p.Leu49Ser
XM_011513992.1:c.1139T>C	XP_011512294.1:p.Leu380Ser
XM_011513993.1:c.1139T>C	XP_011512295.1:p.Leu380Ser
XM_011513994.1:c.1139T>C	XP_011512296.1:p.Leu380Ser
XM_011513995.1:c.1139T>C	XP_011512297.1:p.Leu380Ser
XM_011513996.1:c.979-10174T>C	XP_011512298.1:n.979-10174T>C
XM_011513997.1:c.1139T>C	XP_011512299.1:p.Leu380Ser
NM_178140.3:c.1139T>C	NP_835260.2:p.Leu380Ser
XM_005248269.4:c.1139T>C	XP_005248326.1:p.Leu380Ser
XM_005248272.4:c.617T>C	XP_005248329.1:p.Leu206Ser
XM_011513992.2:c.1139T>C	XP_011512294.1:p.Leu380Ser
XM_011513993.2:c.1139T>C	XP_011512295.1:p.Leu380Ser
XM_011513994.2:c.1139T>C	XP_011512296.1:p.Leu380Ser
XM_011513995.2:c.1139T>C	XP_011512297.1:p.Leu380Ser
XM_011513996.2:c.979-10174T>C	XP_011512298.1:n.979-10174T>C
XM_017009245.1:c.457-10174T>C	XP_016864734.1:n.457-10174T>C
XM_017009246.1:c.146T>C	XP_016864735.1:p.Leu49Ser
NM_178140.4:c.1139T>C MANE Select	NP_835260.2:p.Leu380Ser