Canonical Allele Identifier: CA2695203554
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88043340_88043341insCT , CM000666.2:g.88043340_88043341insCT GRCh38
NC_000004.11:g.88964492_88964493insCT , CM000666.1:g.88964492_88964493insCT GRCh37
NC_000004.10:g.89183516_89183517insCT NCBI36
NG_008604.1:g.40673_40674insCT

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.1202_1203insCT MANE Select ENSP00000237596.2:p.Glu401AspfsTer2
ENST00000237596.6:c.1202_1203insCT ENSP00000237596.2:p.Glu401AspfsTer2
ENST00000506367.1:n.649_650insCT
ENST00000508588.5:c.-316_-315insCT ENSP00000427131.1:n.-316_-315insCT
NM_000297.3:c.1202_1203insCT NP_000288.1:p.Glu401AspfsTer2
XM_011532028.1:c.1095-3302_1095-3301insCT XP_011530330.1:n.1095-3302_1095-3301insCT
XM_011532029.1:c.482_483insCT XP_011530331.1:p.Glu161AspfsTer2
XM_011532030.1:c.362_363insCT XP_011530332.1:p.Glu121AspfsTer2
XR_244632.2:n.1297_1298insCT
NR_156488.1:n.1289_1290insCT
XM_011532028.2:c.1095-3302_1095-3301insCT XP_011530330.1:n.1095-3302_1095-3301insCT
XM_011532030.2:c.362_363insCT XP_011530332.1:p.Glu121AspfsTer2
NM_000297.4:c.1202_1203insCT MANE Select NP_000288.1:p.Glu401AspfsTer2
NR_156488.2:n.1301_1302insCT