Canonical Allele Identifier: CA917247583
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1578111265
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007922del , CM000666.2:g.88007922del GRCh38
NC_000004.11:g.88929074del , CM000666.1:g.88929074del GRCh37
NC_000004.10:g.89148098del NCBI36
NG_008604.1:g.5255del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.189del MANE Select ENSP00000237596.2:p.Ala64ArgfsTer?
ENST00000237596.6:c.189del ENSP00000237596.2:p.Ala64ArgfsTer?
NM_000297.3:c.189del NP_000288.1:p.Ala64ArgfsTer?
XM_011532028.1:c.189del XP_011530330.1:p.Ala64ArgfsTer?
XR_244632.2:n.284del
NR_156488.1:n.276del
XM_011532028.2:c.189del XP_011530330.1:p.Ala64ArgfsTer?
NM_000297.4:c.189del MANE Select NP_000288.1:p.Ala64ArgfsTer?
NR_156488.2:n.288del
Search 100 bp 5'
Search 100 bp 3'