Canonical Allele Identifier: CA1474579685
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1727797824

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88046932_88046933del , CM000666.2:g.88046932_88046933del GRCh38
NC_000004.11:g.88968084_88968085del , CM000666.1:g.88968084_88968085del GRCh37
NC_000004.10:g.89187108_89187109del NCBI36
NG_008604.1:g.44265_44266del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.1548+62_1548+63del MANE Select ENSP00000237596.2:n.1548+62_1548+63del
ENST00000237596.6:c.1548+62_1548+63del ENSP00000237596.2:n.1548+62_1548+63del
ENST00000508588.5:c.-199+3475_-199+3476del ENSP00000427131.1:n.-199+3475_-199+3476del
NM_000297.3:c.1548+62_1548+63del NP_000288.1:n.1548+62_1548+63del
XM_011532028.1:c.1323+62_1323+63del XP_011530330.1:n.1323+62_1323+63del
XM_011532029.1:c.828+62_828+63del XP_011530331.1:n.828+62_828+63del
XM_011532030.1:c.708+62_708+63del XP_011530332.1:n.708+62_708+63del
XR_244632.2:n.1643+62_1643+63del
NR_156488.1:n.1635+62_1635+63del
XM_011532028.2:c.1323+62_1323+63del XP_011530330.1:n.1323+62_1323+63del
XM_011532030.2:c.708+62_708+63del XP_011530332.1:n.708+62_708+63del
NM_000297.4:c.1548+62_1548+63del MANE Select NP_000288.1:n.1548+62_1548+63del
NR_156488.2:n.1647+62_1647+63del