Canonical Allele Identifier: CA357627226
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008316C>G , CM000666.2:g.88008316C>G GRCh38
NC_000004.11:g.88929468C>G , CM000666.1:g.88929468C>G GRCh37
NC_000004.10:g.89148492C>G NCBI36
NG_008604.1:g.5649C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.583C>G MANE Select ENSP00000237596.2:p.Arg195Gly
ENST00000237596.6:c.583C>G ENSP00000237596.2:p.Arg195Gly
ENST00000506727.1:n.85C>G
NM_000297.3:c.583C>G NP_000288.1:p.Arg195Gly
XM_011532028.1:c.583C>G XP_011530330.1:p.Arg195Gly
XR_244632.2:n.678C>G
NR_156488.1:n.670C>G
XM_011532028.2:c.583C>G XP_011530330.1:p.Arg195Gly
NM_000297.4:c.583C>G MANE Select NP_000288.1:p.Arg195Gly
NR_156488.2:n.682C>G