Canonical Allele Identifier: CA357624873
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1459980217
gnomAD v3: 4-88007768-C-G
gnomAD v4: 4-88007768-C-G
MyVariant Identifiers: chr4:g.88928920C>G (hg19) chr4:g.88007768C>G (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007768C>G , CM000666.2:g.88007768C>G GRCh38
NC_000004.11:g.88928920C>G , CM000666.1:g.88928920C>G GRCh37
NC_000004.10:g.89147944C>G NCBI36
NG_008604.1:g.5101C>G

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.35C>G MANE Select ENSP00000237596.2:p.Pro12Arg
ENST00000237596.6:c.35C>G ENSP00000237596.2:p.Pro12Arg
NM_000297.3:c.35C>G NP_000288.1:p.Pro12Arg
XM_011532028.1:c.35C>G XP_011530330.1:p.Pro12Arg
XR_244632.2:n.130C>G
NR_156488.1:n.122C>G
XM_011532028.2:c.35C>G XP_011530330.1:p.Pro12Arg
NM_000297.4:c.35C>G MANE Select NP_000288.1:p.Pro12Arg
NR_156488.2:n.134C>G
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