Canonical Allele Identifier: CA357626932
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008241G>A , CM000666.2:g.88008241G>A GRCh38
NC_000004.11:g.88929393G>A , CM000666.1:g.88929393G>A GRCh37
NC_000004.10:g.89148417G>A NCBI36
NG_008604.1:g.5574G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.508G>A MANE Select ENSP00000237596.2:p.Gly170Ser
ENST00000237596.6:c.508G>A ENSP00000237596.2:p.Gly170Ser
ENST00000506727.1:n.10G>A
NM_000297.3:c.508G>A NP_000288.1:p.Gly170Ser
XM_011532028.1:c.508G>A XP_011530330.1:p.Gly170Ser
XR_244632.2:n.603G>A
NR_156488.1:n.595G>A
XM_011532028.2:c.508G>A XP_011530330.1:p.Gly170Ser
NM_000297.4:c.508G>A MANE Select NP_000288.1:p.Gly170Ser
NR_156488.2:n.607G>A