Canonical Allele Identifier: CA1474562103
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1346529837
gnomAD v4: 4-88007711-C-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007711C>G , CM000666.2:g.88007711C>G GRCh38
NC_000004.11:g.88928863C>G , CM000666.1:g.88928863C>G GRCh37
NC_000004.10:g.89147887C>G NCBI36
NG_008604.1:g.5044C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-23C>G MANE Select ENSP00000237596.2:n.-23C>G
ENST00000237596.6:c.-23C>G ENSP00000237596.2:n.-23C>G
NM_000297.3:c.-23C>G NP_000288.1:n.-23C>G
XM_011532028.1:c.-23C>G XP_011530330.1:n.-23C>G
XR_244632.2:n.73C>G
NR_156488.1:n.65C>G
XM_011532028.2:c.-23C>G XP_011530330.1:n.-23C>G
NM_000297.4:c.-23C>G MANE Select NP_000288.1:n.-23C>G
NR_156488.2:n.77C>G