Canonical Allele Identifier: CA357625077
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1805044
gnomAD v4: 4-88007816-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007816G>A , CM000666.2:g.88007816G>A GRCh38
NC_000004.11:g.88928968G>A , CM000666.1:g.88928968G>A GRCh37
NC_000004.10:g.89147992G>A NCBI36
NG_008604.1:g.5149G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.83G>A MANE Select ENSP00000237596.2:p.Arg28Gln
ENST00000237596.6:c.83G>A ENSP00000237596.2:p.Arg28Gln
NM_000297.3:c.83G>A NP_000288.1:p.Arg28Gln
XM_011532028.1:c.83G>A XP_011530330.1:p.Arg28Gln
XR_244632.2:n.178G>A
NR_156488.1:n.170G>A
XM_011532028.2:c.83G>A XP_011530330.1:p.Arg28Gln
NM_000297.4:c.83G>A MANE Select NP_000288.1:p.Arg28Gln
NR_156488.2:n.182G>A