Canonical Allele Identifier: CA913190202
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 618826
ClinVar RCV Id: RCV000757660
dbSNP Id: rs1578111741
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008307_88008308del , CM000666.2:g.88008307_88008308del GRCh38
NC_000004.11:g.88929459_88929460del , CM000666.1:g.88929459_88929460del GRCh37
NC_000004.10:g.89148483_89148484del NCBI36
NG_008604.1:g.5640_5641del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.574_575del MANE Select ENSP00000237596.2:p.Arg192AlafsTer20
ENST00000237596.6:c.574_575del ENSP00000237596.2:p.Arg192AlafsTer20
ENST00000506727.1:n.76_77del
NM_000297.3:c.574_575del NP_000288.1:p.Arg192AlafsTer20
XM_011532028.1:c.574_575del XP_011530330.1:p.Arg192AlafsTer20
XR_244632.2:n.669_670del
NR_156488.1:n.661_662del
XM_011532028.2:c.574_575del XP_011530330.1:p.Arg192AlafsTer20
NM_000297.4:c.574_575del MANE Select NP_000288.1:p.Arg192AlafsTer20
NR_156488.2:n.673_674del
Search 100 bp 5'
Search 100 bp 3'