Canonical Allele Identifier: CA2671365180
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007803_88007804del , CM000666.2:g.88007803_88007804del GRCh38
NC_000004.11:g.88928955_88928956del , CM000666.1:g.88928955_88928956del GRCh37
NC_000004.10:g.89147979_89147980del NCBI36
NG_008604.1:g.5136_5137del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.70_71del MANE Select ENSP00000237596.2:p.Pro24GlyfsTer?
ENST00000237596.6:c.70_71del ENSP00000237596.2:p.Pro24GlyfsTer?
NM_000297.3:c.70_71del NP_000288.1:p.Pro24GlyfsTer?
XM_011532028.1:c.70_71del XP_011530330.1:p.Pro24GlyfsTer?
XR_244632.2:n.165_166del
NR_156488.1:n.157_158del
XM_011532028.2:c.70_71del XP_011530330.1:p.Pro24GlyfsTer?
NM_000297.4:c.70_71del MANE Select NP_000288.1:p.Pro24GlyfsTer?
NR_156488.2:n.169_170del