Canonical Allele Identifier: CA2762537685
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88046911_88046912del , CM000666.2:g.88046911_88046912del GRCh38
NC_000004.11:g.88968063_88968064del , CM000666.1:g.88968063_88968064del GRCh37
NC_000004.10:g.89187087_89187088del NCBI36
NG_008604.1:g.44244_44245del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.1548+41_1548+42del MANE Select ENSP00000237596.2:n.1548+41_1548+42del
ENST00000237596.6:c.1548+41_1548+42del ENSP00000237596.2:n.1548+41_1548+42del
ENST00000508588.5:c.-199+3454_-199+3455del ENSP00000427131.1:n.-199+3454_-199+3455del
NM_000297.3:c.1548+41_1548+42del NP_000288.1:n.1548+41_1548+42del
XM_011532028.1:c.1323+41_1323+42del XP_011530330.1:n.1323+41_1323+42del
XM_011532029.1:c.828+41_828+42del XP_011530331.1:n.828+41_828+42del
XM_011532030.1:c.708+41_708+42del XP_011530332.1:n.708+41_708+42del
XR_244632.2:n.1643+41_1643+42del
NR_156488.1:n.1635+41_1635+42del
XM_011532028.2:c.1323+41_1323+42del XP_011530330.1:n.1323+41_1323+42del
XM_011532030.2:c.708+41_708+42del XP_011530332.1:n.708+41_708+42del
NM_000297.4:c.1548+41_1548+42del MANE Select NP_000288.1:n.1548+41_1548+42del
NR_156488.2:n.1647+41_1647+42del