Canonical Allele Identifier: CA357625564
Gene: PKD2 HGNC NCBI

Linked Data

ClinVar Variation Id: 1061865
ClinVar RCV Id: RCV001371522 RCV003898356
dbSNP Id: rs1175705856
gnomAD v3: 4-88007903-A-G
gnomAD v4: 4-88007903-A-G
MyVariant Identifiers: chr4:g.88929055A>G (hg19) chr4:g.88007903A>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007903A>G , CM000666.2:g.88007903A>G GRCh38
NC_000004.11:g.88929055A>G , CM000666.1:g.88929055A>G GRCh37
NC_000004.10:g.89148079A>G NCBI36
NG_008604.1:g.5236A>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.170A>G MANE Select ENSP00000237596.2:p.Gln57Arg
ENST00000237596.6:c.170A>G ENSP00000237596.2:p.Gln57Arg
NM_000297.3:c.170A>G NP_000288.1:p.Gln57Arg
XM_011532028.1:c.170A>G XP_011530330.1:p.Gln57Arg
XR_244632.2:n.265A>G
NR_156488.1:n.257A>G
XM_011532028.2:c.170A>G XP_011530330.1:p.Gln57Arg
NM_000297.4:c.170A>G MANE Select NP_000288.1:p.Gln57Arg
NR_156488.2:n.269A>G
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