Canonical Allele Identifier: CA552866302
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1330699507
gnomAD v2: 4-88928921-CG-C
gnomAD v4: 4-88007769-CG-C
MyVariant Identifiers: chr4:g.88928922del (hg19) chr4:g.88007770del (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007773del , CM000666.2:g.88007773del GRCh38
NC_000004.11:g.88928925del , CM000666.1:g.88928925del GRCh37
NC_000004.10:g.89147949del NCBI36
NG_008604.1:g.5106del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.40del MANE Select ENSP00000237596.2:p.Asp14ThrfsTer16
ENST00000237596.6:c.40del ENSP00000237596.2:p.Asp14ThrfsTer16
NM_000297.3:c.40del NP_000288.1:p.Asp14ThrfsTer16
XM_011532028.1:c.40del XP_011530330.1:p.Asp14ThrfsTer16
XR_244632.2:n.135del
NR_156488.1:n.127del
XM_011532028.2:c.40del XP_011530330.1:p.Asp14ThrfsTer16
NM_000297.4:c.40del MANE Select NP_000288.1:p.Asp14ThrfsTer16
NR_156488.2:n.139del
Search 100 bp 5'
Search 100 bp 3'