Canonical Allele Identifier: CA357619719

Gene: PKD2

Linked Data

• gnomAD v4: 4-88046831-C-A
• MyVariant Identifiers: chr4:g.88967983C>A (hg19) ; chr4:g.88046831C>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046831C>A , CM000666.2:g.88046831C>A	GRCh38
NC_000004.11:g.88967983C>A , CM000666.1:g.88967983C>A	GRCh37
NC_000004.10:g.89187007C>A	NCBI36
NG_008604.1:g.44164C>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1509C>A MANE Select	ENSP00000237596.2:p.Phe503Leu
ENST00000237596.6:c.1509C>A	ENSP00000237596.2:p.Phe503Leu
ENST00000508588.5:c.-199+3374C>A	ENSP00000427131.1:n.-199+3374C>A
NM_000297.3:c.1509C>A	NP_000288.1:p.Phe503Leu
XM_011532028.1:c.1284C>A	XP_011530330.1:p.Phe428Leu
XM_011532029.1:c.789C>A	XP_011530331.1:p.Phe263Leu
XM_011532030.1:c.669C>A	XP_011530332.1:p.Phe223Leu
XR_244632.2:n.1604C>A
NR_156488.1:n.1596C>A
XM_011532028.2:c.1284C>A	XP_011530330.1:p.Phe428Leu
XM_011532030.2:c.669C>A	XP_011530332.1:p.Phe223Leu
NM_000297.4:c.1509C>A MANE Select	NP_000288.1:p.Phe503Leu
NR_156488.2:n.1608C>A