Canonical Allele Identifier: CA799592692
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1213498621
gnomAD v4: 4-88007787-GC-G
MyVariant Identifiers: chr4:g.88928940del (hg19) chr4:g.88007788del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007790del , CM000666.2:g.88007790del GRCh38
NC_000004.11:g.88928942del , CM000666.1:g.88928942del GRCh37
NC_000004.10:g.89147966del NCBI36
NG_008604.1:g.5123del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.57del MANE Select ENSP00000237596.2:p.Ala20ArgfsTer10
ENST00000237596.6:c.57del ENSP00000237596.2:p.Ala20ArgfsTer10
NM_000297.3:c.57del NP_000288.1:p.Ala20ArgfsTer10
XM_011532028.1:c.57del XP_011530330.1:p.Ala20ArgfsTer10
XR_244632.2:n.152del
NR_156488.1:n.144del
XM_011532028.2:c.57del XP_011530330.1:p.Ala20ArgfsTer10
NM_000297.4:c.57del MANE Select NP_000288.1:p.Ala20ArgfsTer10
NR_156488.2:n.156del
Search 100 bp 5'
Search 100 bp 3'