Canonical Allele Identifier: CA552866417
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2753634
ClinVar RCV Id: RCV003584252
dbSNP Id: rs1331405684
gnomAD v2: 4-88929483-A-G
gnomAD v4: 4-88008331-A-G
MyVariant Identifiers: chr4:g.88929483A>G (hg19) chr4:g.88008331A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008331A>G , CM000666.2:g.88008331A>G GRCh38
NC_000004.11:g.88929483A>G , CM000666.1:g.88929483A>G GRCh37
NC_000004.10:g.89148507A>G NCBI36
NG_008604.1:g.5664A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.595+3A>G MANE Select ENSP00000237596.2:n.595+3A>G
ENST00000237596.6:c.595+3A>G ENSP00000237596.2:n.595+3A>G
ENST00000506727.1:n.97+3A>G
NM_000297.3:c.595+3A>G NP_000288.1:n.595+3A>G
XM_011532028.1:c.595+3A>G XP_011530330.1:n.595+3A>G
XR_244632.2:n.690+3A>G
NR_156488.1:n.682+3A>G
XM_011532028.2:c.595+3A>G XP_011530330.1:n.595+3A>G
NM_000297.4:c.595+3A>G MANE Select NP_000288.1:n.595+3A>G
NR_156488.2:n.694+3A>G
Search 100 bp 5'
Search 100 bp 3'