Canonical Allele Identifier: CA357625016
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007803-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007803C>G , CM000666.2:g.88007803C>G GRCh38
NC_000004.11:g.88928955C>G , CM000666.1:g.88928955C>G GRCh37
NC_000004.10:g.89147979C>G NCBI36
NG_008604.1:g.5136C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.70C>G MANE Select ENSP00000237596.2:p.Pro24Ala
ENST00000237596.6:c.70C>G ENSP00000237596.2:p.Pro24Ala
NM_000297.3:c.70C>G NP_000288.1:p.Pro24Ala
XM_011532028.1:c.70C>G XP_011530330.1:p.Pro24Ala
XR_244632.2:n.165C>G
NR_156488.1:n.157C>G
XM_011532028.2:c.70C>G XP_011530330.1:p.Pro24Ala
NM_000297.4:c.70C>G MANE Select NP_000288.1:p.Pro24Ala
NR_156488.2:n.169C>G