Canonical Allele Identifier: CA440296832
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008120-G-A
MyVariant Identifiers: chr4:g.88929272G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008120G>A , CM000666.2:g.88008120G>A GRCh38
NC_000004.11:g.88929272G>A , CM000666.1:g.88929272G>A GRCh37
NC_000004.10:g.89148296G>A NCBI36
NG_008604.1:g.5453G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.387G>A MANE Select ENSP00000237596.2:p.Ser129=
ENST00000237596.6:c.387G>A ENSP00000237596.2:p.Ser129=
NM_000297.3:c.387G>A NP_000288.1:p.Ser129=
XM_011532028.1:c.387G>A XP_011530330.1:p.Ser129=
XR_244632.2:n.482G>A
NR_156488.1:n.474G>A
XM_011532028.2:c.387G>A XP_011530330.1:p.Ser129=
NM_000297.4:c.387G>A MANE Select NP_000288.1:p.Ser129=
NR_156488.2:n.486G>A
Search 100 bp 5'
Search 100 bp 3'