Canonical Allele Identifier: CA100877149
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88058044C>A , CM000666.2:g.88058044C>A GRCh38
NC_000004.11:g.88979196C>A , CM000666.1:g.88979196C>A GRCh37
NC_000004.10:g.89198220C>A NCBI36
NG_008604.1:g.55377C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.1960C>A MANE Select ENSP00000237596.2:p.Arg654=
ENST00000237596.6:c.1960C>A ENSP00000237596.2:p.Arg654=
ENST00000502363.1:c.214C>A ENSP00000425289.1:p.Arg72=
ENST00000508588.5:c.214C>A ENSP00000427131.1:p.Arg72=
ENST00000511337.5:n.271+1777C>A
ENST00000512858.1:n.231+1777C>A
NM_000297.3:c.1960C>A NP_000288.1:p.Arg654=
XM_011532028.1:c.1735C>A XP_011530330.1:p.Arg579=
XM_011532029.1:c.1240C>A XP_011530331.1:p.Arg414=
XM_011532030.1:c.1120C>A XP_011530332.1:p.Arg374=
XR_244632.2:n.1993+1777C>A
NR_156488.1:n.1985+1777C>A
XM_011532028.2:c.1735C>A XP_011530330.1:p.Arg579=
XM_011532030.2:c.1120C>A XP_011530332.1:p.Arg374=
NM_000297.4:c.1960C>A MANE Select NP_000288.1:p.Arg654=
NR_156488.2:n.1997+1777C>A