Canonical Allele Identifier: CA2578140323
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007638-C-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007638C>A , CM000666.2:g.88007638C>A GRCh38
NC_000004.11:g.88928790C>A , CM000666.1:g.88928790C>A GRCh37
NC_000004.10:g.89147814C>A NCBI36
NG_008604.1:g.4971C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-96C>A MANE Select ENSP00000237596.2:n.-96C>A
NM_000297.4:c.-96C>A MANE Select NP_000288.1:n.-96C>A
NR_156488.2:n.4C>A