Canonical Allele Identifier: CA357624872
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2920117
ClinVar RCV Id: RCV003747681
dbSNP Id: rs1459980217
gnomAD v2: 4-88928920-C-T
gnomAD v3: 4-88007768-C-T
gnomAD v4: 4-88007768-C-T
MyVariant Identifiers: chr4:g.88928920C>T (hg19) chr4:g.88007768C>T (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007768C>T , CM000666.2:g.88007768C>T GRCh38
NC_000004.11:g.88928920C>T , CM000666.1:g.88928920C>T GRCh37
NC_000004.10:g.89147944C>T NCBI36
NG_008604.1:g.5101C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.35C>T MANE Select ENSP00000237596.2:p.Pro12Leu
ENST00000237596.6:c.35C>T ENSP00000237596.2:p.Pro12Leu
NM_000297.3:c.35C>T NP_000288.1:p.Pro12Leu
XM_011532028.1:c.35C>T XP_011530330.1:p.Pro12Leu
XR_244632.2:n.130C>T
NR_156488.1:n.122C>T
XM_011532028.2:c.35C>T XP_011530330.1:p.Pro12Leu
NM_000297.4:c.35C>T MANE Select NP_000288.1:p.Pro12Leu
NR_156488.2:n.134C>T
Search 100 bp 5'
Search 100 bp 3'