Canonical Allele Identifier: CA1065142188
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1726211676
gnomAD v3: 4-88007637-G-A
gnomAD v4: 4-88007637-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007637G>A , CM000666.2:g.88007637G>A GRCh38
NC_000004.11:g.88928789G>A , CM000666.1:g.88928789G>A GRCh37
NC_000004.10:g.89147813G>A NCBI36
NG_008604.1:g.4970G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-97G>A MANE Select ENSP00000237596.2:n.-97G>A
NM_000297.4:c.-97G>A MANE Select NP_000288.1:n.-97G>A
NR_156488.2:n.3G>A