Canonical Allele Identifier: CA357626358
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs1313638973
gnomAD v2: 4-88929243-C-T
gnomAD v4: 4-88008091-C-T
MyVariant Identifiers: chr4:g.88929243C>T (hg19) chr4:g.88008091C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008091C>T , CM000666.2:g.88008091C>T GRCh38
NC_000004.11:g.88929243C>T , CM000666.1:g.88929243C>T GRCh37
NC_000004.10:g.89148267C>T NCBI36
NG_008604.1:g.5424C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.358C>T MANE Select ENSP00000237596.2:p.Pro120Ser
ENST00000237596.6:c.358C>T ENSP00000237596.2:p.Pro120Ser
NM_000297.3:c.358C>T NP_000288.1:p.Pro120Ser
XM_011532028.1:c.358C>T XP_011530330.1:p.Pro120Ser
XR_244632.2:n.453C>T
NR_156488.1:n.445C>T
XM_011532028.2:c.358C>T XP_011530330.1:p.Pro120Ser
NM_000297.4:c.358C>T MANE Select NP_000288.1:p.Pro120Ser
NR_156488.2:n.457C>T
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