Canonical Allele Identifier: CA357624934

Gene: PKD2

Linked Data

• gnomAD v4: 4-88007782-C-T
• MyVariant Identifiers: chr4:g.88928934C>T (hg19) ; chr4:g.88007782C>T (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88007782C>T , CM000666.2:g.88007782C>T	GRCh38
NC_000004.11:g.88928934C>T , CM000666.1:g.88928934C>T	GRCh37
NC_000004.10:g.89147958C>T	NCBI36
NG_008604.1:g.5115C>T

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.49C>T MANE Select	ENSP00000237596.2:p.Arg17Trp
ENST00000237596.6:c.49C>T	ENSP00000237596.2:p.Arg17Trp
NM_000297.3:c.49C>T	NP_000288.1:p.Arg17Trp
XM_011532028.1:c.49C>T	XP_011530330.1:p.Arg17Trp
XR_244632.2:n.144C>T
NR_156488.1:n.136C>T
XM_011532028.2:c.49C>T	XP_011530330.1:p.Arg17Trp
NM_000297.4:c.49C>T MANE Select	NP_000288.1:p.Arg17Trp
NR_156488.2:n.148C>T