Canonical Allele Identifier: CA552866252
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1276848600
gnomAD v2: 4-88928836-A-G
gnomAD v3: 4-88007684-A-G
gnomAD v4: 4-88007684-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007684A>G , CM000666.2:g.88007684A>G GRCh38
NC_000004.11:g.88928836A>G , CM000666.1:g.88928836A>G GRCh37
NC_000004.10:g.89147860A>G NCBI36
NG_008604.1:g.5017A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-50A>G MANE Select ENSP00000237596.2:n.-50A>G
ENST00000237596.6:c.-50A>G ENSP00000237596.2:n.-50A>G
NM_000297.3:c.-50A>G NP_000288.1:n.-50A>G
XM_011532028.1:c.-50A>G XP_011530330.1:n.-50A>G
XR_244632.2:n.46A>G
NR_156488.1:n.38A>G
XM_011532028.2:c.-50A>G XP_011530330.1:n.-50A>G
NM_000297.4:c.-50A>G MANE Select NP_000288.1:n.-50A>G
NR_156488.2:n.50A>G