Canonical Allele Identifier: CA357624997
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 2047318
ClinVar RCV Id: RCV002926817
dbSNP Id: rs1450630438
gnomAD v2: 4-88928950-G-A
gnomAD v3: 4-88007798-G-A
gnomAD v4: 4-88007798-G-A
MyVariant Identifiers: chr4:g.88928950G>A (hg19) chr4:g.88007798G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007798G>A , CM000666.2:g.88007798G>A GRCh38
NC_000004.11:g.88928950G>A , CM000666.1:g.88928950G>A GRCh37
NC_000004.10:g.89147974G>A NCBI36
NG_008604.1:g.5131G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.65G>A MANE Select ENSP00000237596.2:p.Arg22His
ENST00000237596.6:c.65G>A ENSP00000237596.2:p.Arg22His
NM_000297.3:c.65G>A NP_000288.1:p.Arg22His
XM_011532028.1:c.65G>A XP_011530330.1:p.Arg22His
XR_244632.2:n.160G>A
NR_156488.1:n.152G>A
XM_011532028.2:c.65G>A XP_011530330.1:p.Arg22His
NM_000297.4:c.65G>A MANE Select NP_000288.1:p.Arg22His
NR_156488.2:n.164G>A
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