Canonical Allele Identifier: CA658657394

Gene: PKD2

Linked Data

• ClinVar Variation Id: 448033
• ClinVar RCV Id: RCV000517227 ; RCV001001334 ; RCV001292443 ; RCV002527509
• dbSNP Id: rs1553926929
• gnomAD v3: 4-88056272-G-A
• gnomAD v4: 4-88056272-G-A
• MyVariant Identifiers: chr4:g.88977424G>A (hg19) ; chr4:g.88056272G>A (hg38)
• PubMed: PMID:17574468 ; PMID:17582161 ; PMID:19158373

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88056272G>A , CM000666.2:g.88056272G>A	GRCh38
NC_000004.11:g.88977424G>A , CM000666.1:g.88977424G>A	GRCh37
NC_000004.10:g.89196448G>A	NCBI36
NG_008604.1:g.53605G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1898+5G>A MANE Select	ENSP00000237596.2:n.1898+5G>A
ENST00000237596.6:c.1898+5G>A	ENSP00000237596.2:n.1898+5G>A
ENST00000502363.1:c.152+5G>A	ENSP00000425289.1:n.152+5G>A
ENST00000508588.5:c.152+5G>A	ENSP00000427131.1:n.152+5G>A
ENST00000511337.5:n.271+5G>A
ENST00000512858.1:n.231+5G>A
NM_000297.3:c.1898+5G>A	NP_000288.1:n.1898+5G>A
XM_011532028.1:c.1673+5G>A	XP_011530330.1:n.1673+5G>A
XM_011532029.1:c.1178+5G>A	XP_011530331.1:n.1178+5G>A
XM_011532030.1:c.1058+5G>A	XP_011530332.1:n.1058+5G>A
XR_244632.2:n.1993+5G>A
NR_156488.1:n.1985+5G>A
XM_011532028.2:c.1673+5G>A	XP_011530330.1:n.1673+5G>A
XM_011532030.2:c.1058+5G>A	XP_011530332.1:n.1058+5G>A
NM_000297.4:c.1898+5G>A MANE Select	NP_000288.1:n.1898+5G>A
NR_156488.2:n.1997+5G>A