Canonical Allele Identifier: CA1474578068
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88043305T= , CM000666.2:g.88043305T= GRCh38
NC_000004.11:g.88964457T= , CM000666.1:g.88964457T= GRCh37
NC_000004.10:g.89183481T= NCBI36
NG_008604.1:g.40638T=

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.1167T= MANE Select ENSP00000237596.2:p.Ala389=
ENST00000237596.6:c.1167T= ENSP00000237596.2:p.Ala389=
ENST00000506367.1:n.614T=
ENST00000508588.5:c.-351T= ENSP00000427131.1:n.-351T=
NM_000297.3:c.1167T= NP_000288.1:p.Ala389=
XM_011532028.1:c.1095-3337T= XP_011530330.1:n.1095-3337T=
XM_011532029.1:c.447T= XP_011530331.1:p.Ala149=
XM_011532030.1:c.327T= XP_011530332.1:p.Ala109=
XR_244632.2:n.1262T=
NR_156488.1:n.1254T=
XM_011532028.2:c.1095-3337T= XP_011530330.1:n.1095-3337T=
XM_011532030.2:c.327T= XP_011530332.1:p.Ala109=
NM_000297.4:c.1167T= MANE Select NP_000288.1:p.Ala389=
NR_156488.2:n.1266T=