Canonical Allele Identifier: CA1474578089
Community Standard Title: NM_000297.4(PKD2):c.1213C= (p.Gln405=)
Gene: PKD2 HGNC NCBI

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88043351C= , CM000666.2:g.88043351C= GRCh38
NC_000004.11:g.88964503C= , CM000666.1:g.88964503C= GRCh37
NC_000004.10:g.89183527C= NCBI36
NG_008604.1:g.40684C=

Transcript Alleles

HGVS Amino-acid Change
NM_000297.4:c.1213C= MANE Select NP_000288.1:p.Gln405=
ENST00000237596.7:c.1213C= MANE Select ENSP00000237596.2:p.Gln405=
NM_000297.3:c.1213C= NP_000288.1:p.Gln405=
NR_156488.1:n.1300C=
NR_156488.2:n.1312C=
ENST00000237596.6:c.1213C= ENSP00000237596.2:p.Gln405=
ENST00000506367.1:n.660C=
ENST00000508588.5:c.-305C= ENSP00000427131.1:n.-305C=
XM_011532028.1:c.1095-3291C= XP_011530330.1:n.1095-3291C=
XM_011532028.2:c.1095-3291C= XP_011530330.1:n.1095-3291C=
XM_011532029.1:c.493C= XP_011530331.1:p.Gln165=
XM_011532030.1:c.373C= XP_011530332.1:p.Gln125=
XM_011532030.2:c.373C= XP_011530332.1:p.Gln125=
XR_244632.2:n.1308C=