Canonical Allele Identifier: CA552866262
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1399699120
gnomAD v2: 4-88928854-G-C
gnomAD v4: 4-88007702-G-C
MyVariant Identifiers: chr4:g.88928854G>C (hg19) chr4:g.88007702G>C (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007702G>C , CM000666.2:g.88007702G>C GRCh38
NC_000004.11:g.88928854G>C , CM000666.1:g.88928854G>C GRCh37
NC_000004.10:g.89147878G>C NCBI36
NG_008604.1:g.5035G>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-32G>C MANE Select ENSP00000237596.2:n.-32G>C
ENST00000237596.6:c.-32G>C ENSP00000237596.2:n.-32G>C
NM_000297.3:c.-32G>C NP_000288.1:n.-32G>C
XM_011532028.1:c.-32G>C XP_011530330.1:n.-32G>C
XR_244632.2:n.64G>C
NR_156488.1:n.56G>C
XM_011532028.2:c.-32G>C XP_011530330.1:n.-32G>C
NM_000297.4:c.-32G>C MANE Select NP_000288.1:n.-32G>C
NR_156488.2:n.68G>C
Search 100 bp 5'
Search 100 bp 3'