Canonical Allele Identifier: CA357616589

Gene: PKD2

Linked Data

• ClinVar Variation Id: 430967
• ClinVar RCV Id: RCV000496001 ; RCV000542204 ; RCV000992621 ; RCV001292205 ; RCV000622691
• dbSNP Id: rs1131692280
• gnomAD v2: 4-88964610-G-A
• gnomAD v3: 4-88043458-G-A
• gnomAD v4: 4-88043458-G-A
• MyVariant Identifiers: chr4:g.88964610G>A (hg19) ; chr4:g.88043458G>A (hg38)
• PubMed: PMID:9856513 ; PMID:9856528 ; PMID:11007674 ; PMID:11095651 ; PMID:12707387 ; PMID:17429049 ; PMID:22383692 ; PMID:23376035 ; PMID:24925719 ; PMID:26275819 ; PMID:26364947

Genomic Alleles

HGVS	Genome Assembly
NC_000004.12:g.88043458G>A , CM000666.2:g.88043458G>A	GRCh38
NC_000004.11:g.88964610G>A , CM000666.1:g.88964610G>A	GRCh37
NC_000004.10:g.89183634G>A	NCBI36
NG_008604.1:g.40791G>A

Transcript Alleles

HGVS	Amino-acid Change
ENST00000237596.7:c.1319+1G>A MANE Select	ENSP00000237596.2:n.1319+1G>A
ENST00000237596.6:c.1319+1G>A	ENSP00000237596.2:n.1319+1G>A
ENST00000508588.5:c.-199+1G>A	ENSP00000427131.1:n.-199+1G>A
NM_000297.3:c.1319+1G>A	NP_000288.1:n.1319+1G>A
XM_011532028.1:c.1095-3184G>A	XP_011530330.1:n.1095-3184G>A
XM_011532029.1:c.599+1G>A	XP_011530331.1:n.599+1G>A
XM_011532030.1:c.479+1G>A	XP_011530332.1:n.479+1G>A
XR_244632.2:n.1414+1G>A
NR_156488.1:n.1406+1G>A
XM_011532028.2:c.1095-3184G>A	XP_011530330.1:n.1095-3184G>A
XM_011532030.2:c.479+1G>A	XP_011530332.1:n.479+1G>A
NM_000297.4:c.1319+1G>A MANE Select	NP_000288.1:n.1319+1G>A
NR_156488.2:n.1418+1G>A