Canonical Allele Identifier: CA357627248
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 811939
ClinVar RCV Id: RCV001002441
dbSNP Id: rs1578111778
gnomAD v4: 4-88008329-G-C
MyVariant Identifiers: chr4:g.88929481G>C (hg19) chr4:g.88008329G>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008329G>C , CM000666.2:g.88008329G>C GRCh38
NC_000004.11:g.88929481G>C , CM000666.1:g.88929481G>C GRCh37
NC_000004.10:g.89148505G>C NCBI36
NG_008604.1:g.5662G>C

Transcript Alleles

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