Canonical Allele Identifier: CA3003952

Gene: PKD2

Linked Data

• ClinVar Variation Id: 1032299
• ClinVar RCV Id: RCV001334372
• dbSNP Id: rs746049242
• ExAC: 4:88967961 G / A
• gnomAD v2: 4-88967961-G-A
• gnomAD v3: 4-88046809-G-A
• gnomAD v4: 4-88046809-G-A
• MyVariant Identifiers: chr4:g.88967961G>A (hg19) ; chr4:g.88046809G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88046809G>A , CM000666.2:g.88046809G>A	GRCh38
NC_000004.11:g.88967961G>A , CM000666.1:g.88967961G>A	GRCh37
NC_000004.10:g.89186985G>A	NCBI36
NG_008604.1:g.44142G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1487G>A MANE Select	ENSP00000237596.2:p.Arg496His
ENST00000237596.6:c.1487G>A	ENSP00000237596.2:p.Arg496His
ENST00000508588.5:c.-199+3352G>A	ENSP00000427131.1:n.-199+3352G>A
NM_000297.3:c.1487G>A	NP_000288.1:p.Arg496His
XM_011532028.1:c.1262G>A	XP_011530330.1:p.Arg421His
XM_011532029.1:c.767G>A	XP_011530331.1:p.Arg256His
XM_011532030.1:c.647G>A	XP_011530332.1:p.Arg216His
XR_244632.2:n.1582G>A
NR_156488.1:n.1574G>A
XM_011532028.2:c.1262G>A	XP_011530330.1:p.Arg421His
XM_011532030.2:c.647G>A	XP_011530332.1:p.Arg216His
NM_000297.4:c.1487G>A MANE Select	NP_000288.1:p.Arg496His
NR_156488.2:n.1586G>A