Canonical Allele Identifier: CA357627105

Gene: PKD2

Linked Data

• dbSNP Id: rs1726257723
• gnomAD v4: 4-88008284-C-A
• MyVariant Identifiers: chr4:g.88929436C>A (hg19) ; chr4:g.88008284C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008284C>A , CM000666.2:g.88008284C>A	GRCh38
NC_000004.11:g.88929436C>A , CM000666.1:g.88929436C>A	GRCh37
NC_000004.10:g.89148460C>A	NCBI36
NG_008604.1:g.5617C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.551C>A MANE Select	ENSP00000237596.2:p.Pro184Gln
ENST00000237596.6:c.551C>A	ENSP00000237596.2:p.Pro184Gln
ENST00000506727.1:n.53C>A
NM_000297.3:c.551C>A	NP_000288.1:p.Pro184Gln
XM_011532028.1:c.551C>A	XP_011530330.1:p.Pro184Gln
XR_244632.2:n.646C>A
NR_156488.1:n.638C>A
XM_011532028.2:c.551C>A	XP_011530330.1:p.Pro184Gln
NM_000297.4:c.551C>A MANE Select	NP_000288.1:p.Pro184Gln
NR_156488.2:n.650C>A