Canonical Allele Identifier: CA799592412
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1468273745
gnomAD v3: 4-88007662-G-A
gnomAD v4: 4-88007662-G-A
MyVariant Identifiers: chr4:g.88928814G>A (hg19) chr4:g.88007662G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007662G>A , CM000666.2:g.88007662G>A GRCh38
NC_000004.11:g.88928814G>A , CM000666.1:g.88928814G>A GRCh37
NC_000004.10:g.89147838G>A NCBI36
NG_008604.1:g.4995G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-72G>A MANE Select ENSP00000237596.2:n.-72G>A
NM_000297.3:c.-72G>A NP_000288.1:n.-72G>A
XM_011532028.1:c.-72G>A XP_011530330.1:n.-72G>A
XR_244632.2:n.24G>A
NR_156488.1:n.16G>A
XM_011532028.2:c.-72G>A XP_011530330.1:n.-72G>A
NM_000297.4:c.-72G>A MANE Select NP_000288.1:n.-72G>A
NR_156488.2:n.28G>A
Search 100 bp 5'
Search 100 bp 3'