Canonical Allele Identifier: CA357619677

Gene: PKD2

Linked Data

• gnomAD v4: 4-88046825-C-A
• MyVariant Identifiers: chr4:g.88967977C>A (hg19) ; chr4:g.88046825C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046825C>A , CM000666.2:g.88046825C>A	GRCh38
NC_000004.11:g.88967977C>A , CM000666.1:g.88967977C>A	GRCh37
NC_000004.10:g.89187001C>A	NCBI36
NG_008604.1:g.44158C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1503C>A MANE Select	ENSP00000237596.2:p.His501Gln
ENST00000237596.6:c.1503C>A	ENSP00000237596.2:p.His501Gln
ENST00000508588.5:c.-199+3368C>A	ENSP00000427131.1:n.-199+3368C>A
NM_000297.3:c.1503C>A	NP_000288.1:p.His501Gln
XM_011532028.1:c.1278C>A	XP_011530330.1:p.His426Gln
XM_011532029.1:c.783C>A	XP_011530331.1:p.His261Gln
XM_011532030.1:c.663C>A	XP_011530332.1:p.His221Gln
XR_244632.2:n.1598C>A
NR_156488.1:n.1590C>A
XM_011532028.2:c.1278C>A	XP_011530330.1:p.His426Gln
XM_011532030.2:c.663C>A	XP_011530332.1:p.His221Gln
NM_000297.4:c.1503C>A MANE Select	NP_000288.1:p.His501Gln
NR_156488.2:n.1602C>A