Canonical Allele Identifier: CA2671365097
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007695-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007695C>A , CM000666.2:g.88007695C>A GRCh38
NC_000004.11:g.88928847C>A , CM000666.1:g.88928847C>A GRCh37
NC_000004.10:g.89147871C>A NCBI36
NG_008604.1:g.5028C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-39C>A MANE Select ENSP00000237596.2:n.-39C>A
ENST00000237596.6:c.-39C>A ENSP00000237596.2:n.-39C>A
NM_000297.3:c.-39C>A NP_000288.1:n.-39C>A
XM_011532028.1:c.-39C>A XP_011530330.1:n.-39C>A
XR_244632.2:n.57C>A
NR_156488.1:n.49C>A
XM_011532028.2:c.-39C>A XP_011530330.1:n.-39C>A
NM_000297.4:c.-39C>A MANE Select NP_000288.1:n.-39C>A
NR_156488.2:n.61C>A