Canonical Allele Identifier: CA440297158
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008285-G-A
MyVariant Identifiers: chr4:g.88929437G>A (hg19)
JSON-LD

Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008285G>A , CM000666.2:g.88008285G>A GRCh38
NC_000004.11:g.88929437G>A , CM000666.1:g.88929437G>A GRCh37
NC_000004.10:g.89148461G>A NCBI36
NG_008604.1:g.5618G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.552G>A MANE Select ENSP00000237596.2:p.Pro184=
ENST00000237596.6:c.552G>A ENSP00000237596.2:p.Pro184=
ENST00000506727.1:n.54G>A
NM_000297.3:c.552G>A NP_000288.1:p.Pro184=
XM_011532028.1:c.552G>A XP_011530330.1:p.Pro184=
XR_244632.2:n.647G>A
NR_156488.1:n.639G>A
XM_011532028.2:c.552G>A XP_011530330.1:p.Pro184=
NM_000297.4:c.552G>A MANE Select NP_000288.1:p.Pro184=
NR_156488.2:n.651G>A
Search 100 bp 5'
Search 100 bp 3'