Canonical Allele Identifier: CA357625654
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1175816126
gnomAD v3: 4-88007923-G-A
gnomAD v4: 4-88007923-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007923G>A , CM000666.2:g.88007923G>A GRCh38
NC_000004.11:g.88929075G>A , CM000666.1:g.88929075G>A GRCh37
NC_000004.10:g.89148099G>A NCBI36
NG_008604.1:g.5256G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.190G>A MANE Select ENSP00000237596.2:p.Ala64Thr
ENST00000237596.6:c.190G>A ENSP00000237596.2:p.Ala64Thr
NM_000297.3:c.190G>A NP_000288.1:p.Ala64Thr
XM_011532028.1:c.190G>A XP_011530330.1:p.Ala64Thr
XR_244632.2:n.285G>A
NR_156488.1:n.277G>A
XM_011532028.2:c.190G>A XP_011530330.1:p.Ala64Thr
NM_000297.4:c.190G>A MANE Select NP_000288.1:p.Ala64Thr
NR_156488.2:n.289G>A