Canonical Allele Identifier: CA1474579572
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88046710_88046711delinsTC , CM000666.2:g.88046710_88046711delinsTC GRCh38
NC_000004.11:g.88967862_88967863delinsTC , CM000666.1:g.88967862_88967863delinsTC GRCh37
NC_000004.10:g.89186886_89186887delinsTC NCBI36
NG_008604.1:g.44043_44044delinsTC

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.1388_1389delinsTC MANE Select ENSP00000237596.2:p.Ile463=
ENST00000237596.6:c.1388_1389delinsTC ENSP00000237596.2:p.Ile463=
ENST00000508588.5:c.-199+3253_-199+3254delinsTC ENSP00000427131.1:n.-199+3253_-199+3254delinsTC
NM_000297.3:c.1388_1389delinsTC NP_000288.1:p.Ile463=
XM_011532028.1:c.1163_1164delinsTC XP_011530330.1:p.Ile388=
XM_011532029.1:c.668_669delinsTC XP_011530331.1:p.Ile223=
XM_011532030.1:c.548_549delinsTC XP_011530332.1:p.Ile183=
XR_244632.2:n.1483_1484delinsTC
NR_156488.1:n.1475_1476delinsTC
XM_011532028.2:c.1163_1164delinsTC XP_011530330.1:p.Ile388=
XM_011532030.2:c.548_549delinsTC XP_011530332.1:p.Ile183=
NM_000297.4:c.1388_1389delinsTC MANE Select NP_000288.1:p.Ile463=
NR_156488.2:n.1487_1488delinsTC