Canonical Allele Identifier: CA2740550599
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008375_88008378del , CM000666.2:g.88008375_88008378del GRCh38
NC_000004.11:g.88929527_88929530del , CM000666.1:g.88929527_88929530del GRCh37
NC_000004.10:g.89148551_89148554del NCBI36
NG_008604.1:g.5708_5711del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.595+47_595+50del MANE Select ENSP00000237596.2:n.595+47_595+50del
ENST00000237596.6:c.595+47_595+50del ENSP00000237596.2:n.595+47_595+50del
ENST00000506727.1:n.97+47_97+50del
NM_000297.3:c.595+47_595+50del NP_000288.1:n.595+47_595+50del
XM_011532028.1:c.595+47_595+50del XP_011530330.1:n.595+47_595+50del
XR_244632.2:n.690+47_690+50del
NR_156488.1:n.682+47_682+50del
XM_011532028.2:c.595+47_595+50del XP_011530330.1:n.595+47_595+50del
NM_000297.4:c.595+47_595+50del MANE Select NP_000288.1:n.595+47_595+50del
NR_156488.2:n.694+47_694+50del