Canonical Allele Identifier: CA357625728
Gene: PKD2 HGNC NCBI

Linked Data

gnomAD v4: 4-88007944-G-A
MyVariant Identifiers: chr4:g.88929096G>A (hg19) chr4:g.88007944G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007944G>A , CM000666.2:g.88007944G>A GRCh38
NC_000004.11:g.88929096G>A , CM000666.1:g.88929096G>A GRCh37
NC_000004.10:g.89148120G>A NCBI36
NG_008604.1:g.5277G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.211G>A MANE Select ENSP00000237596.2:p.Ala71Thr
ENST00000237596.6:c.211G>A ENSP00000237596.2:p.Ala71Thr
NM_000297.3:c.211G>A NP_000288.1:p.Ala71Thr
XM_011532028.1:c.211G>A XP_011530330.1:p.Ala71Thr
XR_244632.2:n.306G>A
NR_156488.1:n.298G>A
XM_011532028.2:c.211G>A XP_011530330.1:p.Ala71Thr
NM_000297.4:c.211G>A MANE Select NP_000288.1:p.Ala71Thr
NR_156488.2:n.310G>A
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