Canonical Allele Identifier: CA2762537021
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008366del , CM000666.2:g.88008366del GRCh38
NC_000004.11:g.88929518del , CM000666.1:g.88929518del GRCh37
NC_000004.10:g.89148542del NCBI36
NG_008604.1:g.5699del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.595+38del MANE Select ENSP00000237596.2:n.595+38del
ENST00000237596.6:c.595+38del ENSP00000237596.2:n.595+38del
ENST00000506727.1:n.97+38del
NM_000297.3:c.595+38del NP_000288.1:n.595+38del
XM_011532028.1:c.595+38del XP_011530330.1:n.595+38del
XR_244632.2:n.690+38del
NR_156488.1:n.682+38del
XM_011532028.2:c.595+38del XP_011530330.1:n.595+38del
NM_000297.4:c.595+38del MANE Select NP_000288.1:n.595+38del
NR_156488.2:n.694+38del