Canonical Allele Identifier: CA357625021
Gene: PKD2 HGNC NCBI

Linked Data

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007804C>G , CM000666.2:g.88007804C>G GRCh38
NC_000004.11:g.88928956C>G , CM000666.1:g.88928956C>G GRCh37
NC_000004.10:g.89147980C>G NCBI36
NG_008604.1:g.5137C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.71C>G MANE Select ENSP00000237596.2:p.Pro24Arg
ENST00000237596.6:c.71C>G ENSP00000237596.2:p.Pro24Arg
NM_000297.3:c.71C>G NP_000288.1:p.Pro24Arg
XM_011532028.1:c.71C>G XP_011530330.1:p.Pro24Arg
XR_244632.2:n.166C>G
NR_156488.1:n.158C>G
XM_011532028.2:c.71C>G XP_011530330.1:p.Pro24Arg
NM_000297.4:c.71C>G MANE Select NP_000288.1:p.Pro24Arg
NR_156488.2:n.170C>G