Canonical Allele Identifier: CA553085853
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1314508
ClinVar RCV Id: RCV001773017
dbSNP Id: rs750077647
gnomAD v2: 4-88929173-CGAGGAG-C
gnomAD v3: 4-88008021-CGAGGAG-C
gnomAD v4: 4-88008021-CGAGGAG-C
MyVariant Identifiers: chr4:g.88929174_88929179del (hg19) chr4:g.88008022_88008027del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008035_88008040del , CM000666.2:g.88008035_88008040del GRCh38
NC_000004.11:g.88929187_88929192del , CM000666.1:g.88929187_88929192del GRCh37
NC_000004.10:g.89148211_89148216del NCBI36
NG_008604.1:g.5368_5373del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.302_307del MANE Select ENSP00000237596.2:p.Glu101_Glu102del
ENST00000237596.6:c.302_307del ENSP00000237596.2:p.Glu101_Glu102del
NM_000297.3:c.302_307del NP_000288.1:p.Glu101_Glu102del
XM_011532028.1:c.302_307del XP_011530330.1:p.Glu101_Glu102del
XR_244632.2:n.397_402del
NR_156488.1:n.389_394del
XM_011532028.2:c.302_307del XP_011530330.1:p.Glu101_Glu102del
NM_000297.4:c.302_307del MANE Select NP_000288.1:p.Glu101_Glu102del
NR_156488.2:n.401_406del
Search 100 bp 5'
Search 100 bp 3'