Canonical Allele Identifier: CA3003730

Gene: PKD2

Linked Data

• ClinVar Variation Id: 1921308
• ClinVar RCV Id: RCV002608778
• dbSNP Id: rs762929169
• ExAC: 4:88929404 G / A
• gnomAD v2: 4-88929404-G-A
• gnomAD v3: 4-88008252-G-A
• gnomAD v4: 4-88008252-G-A
• MyVariant Identifiers: chr4:g.88929404G>A (hg19) ; chr4:g.88008252G>A (hg38)

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88008252G>A , CM000666.2:g.88008252G>A	GRCh38
NC_000004.11:g.88929404G>A , CM000666.1:g.88929404G>A	GRCh37
NC_000004.10:g.89148428G>A	NCBI36
NG_008604.1:g.5585G>A

Transcript Alleles

HGVS	Amino-acid change
ENST00000237596.7:c.519G>A MANE Select	ENSP00000237596.2:p.Pro173=
ENST00000237596.6:c.519G>A	ENSP00000237596.2:p.Pro173=
ENST00000506727.1:n.21G>A
NM_000297.3:c.519G>A	NP_000288.1:p.Pro173=
XM_011532028.1:c.519G>A	XP_011530330.1:p.Pro173=
XR_244632.2:n.614G>A
NR_156488.1:n.606G>A
XM_011532028.2:c.519G>A	XP_011530330.1:p.Pro173=
NM_000297.4:c.519G>A MANE Select	NP_000288.1:p.Pro173=
NR_156488.2:n.618G>A