Canonical Allele Identifier: CA357626857

Gene: PKD2

Linked Data

• ClinVar Variation Id: 2534436
• ClinVar RCV Id: RCV003255743
• MyVariant Identifiers: chr4:g.88929375T>A (hg19) ; chr4:g.88008223T>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008223T>A , CM000666.2:g.88008223T>A	GRCh38
NC_000004.11:g.88929375T>A , CM000666.1:g.88929375T>A	GRCh37
NC_000004.10:g.89148399T>A	NCBI36
NG_008604.1:g.5556T>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.490T>A MANE Select	ENSP00000237596.2:p.Cys164Ser
ENST00000237596.6:c.490T>A	ENSP00000237596.2:p.Cys164Ser
NM_000297.3:c.490T>A	NP_000288.1:p.Cys164Ser
XM_011532028.1:c.490T>A	XP_011530330.1:p.Cys164Ser
XR_244632.2:n.585T>A
NR_156488.1:n.577T>A
XM_011532028.2:c.490T>A	XP_011530330.1:p.Cys164Ser
NM_000297.4:c.490T>A MANE Select	NP_000288.1:p.Cys164Ser
NR_156488.2:n.589T>A