Canonical Allele Identifier: CA357625135
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007827-G-A

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007827G>A , CM000666.2:g.88007827G>A GRCh38
NC_000004.11:g.88928979G>A , CM000666.1:g.88928979G>A GRCh37
NC_000004.10:g.89148003G>A NCBI36
NG_008604.1:g.5160G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.94G>A MANE Select ENSP00000237596.2:p.Gly32Ser
ENST00000237596.6:c.94G>A ENSP00000237596.2:p.Gly32Ser
NM_000297.3:c.94G>A NP_000288.1:p.Gly32Ser
XM_011532028.1:c.94G>A XP_011530330.1:p.Gly32Ser
XR_244632.2:n.189G>A
NR_156488.1:n.181G>A
XM_011532028.2:c.94G>A XP_011530330.1:p.Gly32Ser
NM_000297.4:c.94G>A MANE Select NP_000288.1:p.Gly32Ser
NR_156488.2:n.193G>A