Canonical Allele Identifier: CA357626955
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs886059698
gnomAD v2: 4-88929399-G-A
gnomAD v4: 4-88008247-G-A
MyVariant Identifiers: chr4:g.88929399G>A (hg19) chr4:g.88008247G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008247G>A , CM000666.2:g.88008247G>A GRCh38
NC_000004.11:g.88929399G>A , CM000666.1:g.88929399G>A GRCh37
NC_000004.10:g.89148423G>A NCBI36
NG_008604.1:g.5580G>A

Transcript Alleles

HGVS Amino-acid change
ENST00000237596.7:c.514G>A MANE Select ENSP00000237596.2:p.Asp172Asn
ENST00000237596.6:c.514G>A ENSP00000237596.2:p.Asp172Asn
ENST00000506727.1:n.16G>A
NM_000297.3:c.514G>A NP_000288.1:p.Asp172Asn
XM_011532028.1:c.514G>A XP_011530330.1:p.Asp172Asn
XR_244632.2:n.609G>A
NR_156488.1:n.601G>A
XM_011532028.2:c.514G>A XP_011530330.1:p.Asp172Asn
NM_000297.4:c.514G>A MANE Select NP_000288.1:p.Asp172Asn
NR_156488.2:n.613G>A
Search 100 bp 5'
Search 100 bp 3'