Canonical Allele Identifier: CA357626450
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88008119-C-A
MyVariant Identifiers: chr4:g.88929271C>A (hg19) chr4:g.88008119C>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008119C>A , CM000666.2:g.88008119C>A GRCh38
NC_000004.11:g.88929271C>A , CM000666.1:g.88929271C>A GRCh37
NC_000004.10:g.89148295C>A NCBI36
NG_008604.1:g.5452C>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.386C>A MANE Select ENSP00000237596.2:p.Ser129Ter
ENST00000237596.6:c.386C>A ENSP00000237596.2:p.Ser129Ter
NM_000297.3:c.386C>A NP_000288.1:p.Ser129Ter
XM_011532028.1:c.386C>A XP_011530330.1:p.Ser129Ter
XR_244632.2:n.481C>A
NR_156488.1:n.473C>A
XM_011532028.2:c.386C>A XP_011530330.1:p.Ser129Ter
NM_000297.4:c.386C>A MANE Select NP_000288.1:p.Ser129Ter
NR_156488.2:n.485C>A
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