Canonical Allele Identifier: CA2578140791
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88065541del , CM000666.2:g.88065541del GRCh38
NC_000004.11:g.88986693del , CM000666.1:g.88986693del GRCh37
NC_000004.10:g.89205717del NCBI36
NG_008604.1:g.62874del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.2240+46del MANE Select ENSP00000237596.2:n.2240+46del
ENST00000237596.6:c.2240+46del ENSP00000237596.2:n.2240+46del
ENST00000502363.1:c.494+46del ENSP00000425289.1:n.494+46del
ENST00000508588.5:c.494+46del ENSP00000427131.1:n.494+46del
ENST00000511337.5:n.492+46del
ENST00000512858.1:n.498del
NM_000297.3:c.2240+46del NP_000288.1:n.2240+46del
XM_011532028.1:c.2015+46del XP_011530330.1:n.2015+46del
XM_011532029.1:c.1520+46del XP_011530331.1:n.1520+46del
XM_011532030.1:c.1400+46del XP_011530332.1:n.1400+46del
NR_156488.1:n.2206+46del
XM_011532028.2:c.2015+46del XP_011530330.1:n.2015+46del
XM_011532030.2:c.1400+46del XP_011530332.1:n.1400+46del
NM_000297.4:c.2240+46del MANE Select NP_000288.1:n.2240+46del
NR_156488.2:n.2218+46del