Canonical Allele Identifier: CA2671365077
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007682-A-G

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007682A>G , CM000666.2:g.88007682A>G GRCh38
NC_000004.11:g.88928834A>G , CM000666.1:g.88928834A>G GRCh37
NC_000004.10:g.89147858A>G NCBI36
NG_008604.1:g.5015A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-52A>G MANE Select ENSP00000237596.2:n.-52A>G
ENST00000237596.6:c.-52A>G ENSP00000237596.2:n.-52A>G
NM_000297.3:c.-52A>G NP_000288.1:n.-52A>G
XM_011532028.1:c.-52A>G XP_011530330.1:n.-52A>G
XR_244632.2:n.44A>G
NR_156488.1:n.36A>G
XM_011532028.2:c.-52A>G XP_011530330.1:n.-52A>G
NM_000297.4:c.-52A>G MANE Select NP_000288.1:n.-52A>G
NR_156488.2:n.48A>G