Canonical Allele Identifier: CA2838954547
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008340_88008341del , CM000666.2:g.88008340_88008341del GRCh38
NC_000004.11:g.88929492_88929493del , CM000666.1:g.88929492_88929493del GRCh37
NC_000004.10:g.89148516_89148517del NCBI36
NG_008604.1:g.5673_5674del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.595+12_595+13del MANE Select ENSP00000237596.2:n.595+12_595+13del
ENST00000237596.6:c.595+12_595+13del ENSP00000237596.2:n.595+12_595+13del
ENST00000506727.1:n.97+12_97+13del
NM_000297.3:c.595+12_595+13del NP_000288.1:n.595+12_595+13del
XM_011532028.1:c.595+12_595+13del XP_011530330.1:n.595+12_595+13del
XR_244632.2:n.690+12_690+13del
NR_156488.1:n.682+12_682+13del
XM_011532028.2:c.595+12_595+13del XP_011530330.1:n.595+12_595+13del
NM_000297.4:c.595+12_595+13del MANE Select NP_000288.1:n.595+12_595+13del
NR_156488.2:n.694+12_694+13del