Canonical Allele Identifier: CA100873190
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1000973695
gnomAD v4: 4-88008108-G-A
MyVariant Identifiers: chr4:g.88929260G>A (hg19) chr4:g.88008108G>A (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008108G>A , CM000666.2:g.88008108G>A GRCh38
NC_000004.11:g.88929260G>A , CM000666.1:g.88929260G>A GRCh37
NC_000004.10:g.89148284G>A NCBI36
NG_008604.1:g.5441G>A

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.375G>A MANE Select ENSP00000237596.2:p.Ser125=
ENST00000237596.6:c.375G>A ENSP00000237596.2:p.Ser125=
NM_000297.3:c.375G>A NP_000288.1:p.Ser125=
XM_011532028.1:c.375G>A XP_011530330.1:p.Ser125=
XR_244632.2:n.470G>A
NR_156488.1:n.462G>A
XM_011532028.2:c.375G>A XP_011530330.1:p.Ser125=
NM_000297.4:c.375G>A MANE Select NP_000288.1:p.Ser125=
NR_156488.2:n.474G>A
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