Canonical Allele Identifier: CA357624807
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1058615
dbSNP Id: rs1366782791
gnomAD v2: 4-88928904-G-A
gnomAD v4: 4-88007752-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007752G>A , CM000666.2:g.88007752G>A GRCh38
NC_000004.11:g.88928904G>A , CM000666.1:g.88928904G>A GRCh37
NC_000004.10:g.89147928G>A NCBI36
NG_008604.1:g.5085G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.19G>A MANE Select ENSP00000237596.2:p.Val7Met
ENST00000237596.6:c.19G>A ENSP00000237596.2:p.Val7Met
NM_000297.3:c.19G>A NP_000288.1:p.Val7Met
XM_011532028.1:c.19G>A XP_011530330.1:p.Val7Met
XR_244632.2:n.114G>A
NR_156488.1:n.106G>A
XM_011532028.2:c.19G>A XP_011530330.1:p.Val7Met
NM_000297.4:c.19G>A MANE Select NP_000288.1:p.Val7Met
NR_156488.2:n.118G>A