Canonical Allele Identifier: CA3003709
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs760925232
ExAC: 4:88928900 T / C
gnomAD v2: 4-88928900-T-C
gnomAD v4: 4-88007748-T-C
MyVariant Identifiers: chr4:g.88928900T>C (hg19) chr4:g.88007748T>C (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88007748T>C , CM000666.2:g.88007748T>C GRCh38
NC_000004.11:g.88928900T>C , CM000666.1:g.88928900T>C GRCh37
NC_000004.10:g.89147924T>C NCBI36
NG_008604.1:g.5081T>C

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.15T>C MANE Select ENSP00000237596.2:p.Ser5=
ENST00000237596.6:c.15T>C ENSP00000237596.2:p.Ser5=
NM_000297.3:c.15T>C NP_000288.1:p.Ser5=
XM_011532028.1:c.15T>C XP_011530330.1:p.Ser5=
XR_244632.2:n.110T>C
NR_156488.1:n.102T>C
XM_011532028.2:c.15T>C XP_011530330.1:p.Ser5=
NM_000297.4:c.15T>C MANE Select NP_000288.1:p.Ser5=
NR_156488.2:n.114T>C
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