Canonical Allele Identifier: CA357626458
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1373729358
gnomAD v2: 4-88929276-G-A
gnomAD v4: 4-88008124-G-A
MyVariant Identifiers: chr4:g.88929276G>A (hg19) chr4:g.88008124G>A (hg38)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008124G>A , CM000666.2:g.88008124G>A GRCh38
NC_000004.11:g.88929276G>A , CM000666.1:g.88929276G>A GRCh37
NC_000004.10:g.89148300G>A NCBI36
NG_008604.1:g.5457G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.391G>A MANE Select ENSP00000237596.2:p.Val131Met
ENST00000237596.6:c.391G>A ENSP00000237596.2:p.Val131Met
NM_000297.3:c.391G>A NP_000288.1:p.Val131Met
XM_011532028.1:c.391G>A XP_011530330.1:p.Val131Met
XR_244632.2:n.486G>A
NR_156488.1:n.478G>A
XM_011532028.2:c.391G>A XP_011530330.1:p.Val131Met
NM_000297.4:c.391G>A MANE Select NP_000288.1:p.Val131Met
NR_156488.2:n.490G>A
Search 100 bp 5'
Search 100 bp 3'