Canonical Allele Identifier: CA552866248
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1347185573
gnomAD v2: 4-88928787-AGGC-A
gnomAD v3: 4-88007635-AGGC-A
gnomAD v4: 4-88007635-AGGC-A
MyVariant Identifiers: chr4:g.88928788_88928790del (hg19) chr4:g.88007636_88007638del (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007644_88007646del , CM000666.2:g.88007644_88007646del GRCh38
NC_000004.11:g.88928796_88928798del , CM000666.1:g.88928796_88928798del GRCh37
NC_000004.10:g.89147820_89147822del NCBI36
NG_008604.1:g.4977_4979del

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-90_-88del MANE Select ENSP00000237596.2:n.-90_-88del
NM_000297.4:c.-90_-88del MANE Select NP_000288.1:n.-90_-88del
NR_156488.2:n.10_12del
Search 100 bp 5'
Search 100 bp 3'