Canonical Allele Identifier: CA440263333

Gene: PKD2

Linked Data

• dbSNP Id: rs1727792226
• gnomAD v4: 4-88046831-C-T
• MyVariant Identifiers: chr4:g.88967983C>T (hg19)

Genomic Alleles

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

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1509C>T MANE Select	ENSP00000237596.2:p.Phe503=
ENST00000237596.6:c.1509C>T	ENSP00000237596.2:p.Phe503=
ENST00000508588.5:c.-199+3374C>T	ENSP00000427131.1:n.-199+3374C>T
NM_000297.3:c.1509C>T	NP_000288.1:p.Phe503=
XM_011532028.1:c.1284C>T	XP_011530330.1:p.Phe428=
XM_011532029.1:c.789C>T	XP_011530331.1:p.Phe263=
XM_011532030.1:c.669C>T	XP_011530332.1:p.Phe223=
XR_244632.2:n.1604C>T
NR_156488.1:n.1596C>T
XM_011532028.2:c.1284C>T	XP_011530330.1:p.Phe428=
XM_011532030.2:c.669C>T	XP_011530332.1:p.Phe223=
NM_000297.4:c.1509C>T MANE Select	NP_000288.1:p.Phe503=
NR_156488.2:n.1608C>T