Canonical Allele Identifier: CA357624875
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007768-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007768C>A , CM000666.2:g.88007768C>A GRCh38
NC_000004.11:g.88928920C>A , CM000666.1:g.88928920C>A GRCh37
NC_000004.10:g.89147944C>A NCBI36
NG_008604.1:g.5101C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.35C>A MANE Select ENSP00000237596.2:p.Pro12His
ENST00000237596.6:c.35C>A ENSP00000237596.2:p.Pro12His
NM_000297.3:c.35C>A NP_000288.1:p.Pro12His
XM_011532028.1:c.35C>A XP_011530330.1:p.Pro12His
XR_244632.2:n.130C>A
NR_156488.1:n.122C>A
XM_011532028.2:c.35C>A XP_011530330.1:p.Pro12His
NM_000297.4:c.35C>A MANE Select NP_000288.1:p.Pro12His
NR_156488.2:n.134C>A