Canonical Allele Identifier: CA552866291
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 3029240
ClinVar RCV Id: RCV003896349
dbSNP Id: rs1200796583
gnomAD v2: 4-88928883-G-A
gnomAD v3: 4-88007731-G-A
gnomAD v4: 4-88007731-G-A
MyVariant Identifiers: chr4:g.88928883G>A (hg19) chr4:g.88007731G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007731G>A , CM000666.2:g.88007731G>A GRCh38
NC_000004.11:g.88928883G>A , CM000666.1:g.88928883G>A GRCh37
NC_000004.10:g.89147907G>A NCBI36
NG_008604.1:g.5064G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.-3G>A MANE Select ENSP00000237596.2:n.-3G>A
ENST00000237596.6:c.-3G>A ENSP00000237596.2:n.-3G>A
NM_000297.3:c.-3G>A NP_000288.1:n.-3G>A
XM_011532028.1:c.-3G>A XP_011530330.1:n.-3G>A
XR_244632.2:n.93G>A
NR_156488.1:n.85G>A
XM_011532028.2:c.-3G>A XP_011530330.1:n.-3G>A
NM_000297.4:c.-3G>A MANE Select NP_000288.1:n.-3G>A
NR_156488.2:n.97G>A
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