Canonical Allele Identifier: CA100873483
Gene: PKD2 HGNC NCBI

Linked Data

dbSNP Id: rs954942818
gnomAD v2: 4-88929513-C-T
gnomAD v3: 4-88008361-C-T
gnomAD v4: 4-88008361-C-T
MyVariant Identifiers: chr4:g.88929513C>T (hg19) chr4:g.88008361C>T (hg38)
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Genomic Alleles

HGVS Genome Assembly
NC_000004.12:g.88008361C>T , CM000666.2:g.88008361C>T GRCh38
NC_000004.11:g.88929513C>T , CM000666.1:g.88929513C>T GRCh37
NC_000004.10:g.89148537C>T NCBI36
NG_008604.1:g.5694C>T

Transcript Alleles

HGVS Amino-acid Change
ENST00000237596.7:c.595+33C>T MANE Select ENSP00000237596.2:n.595+33C>T
ENST00000237596.6:c.595+33C>T ENSP00000237596.2:n.595+33C>T
ENST00000506727.1:n.97+33C>T
NM_000297.3:c.595+33C>T NP_000288.1:n.595+33C>T
XM_011532028.1:c.595+33C>T XP_011530330.1:n.595+33C>T
XR_244632.2:n.690+33C>T
NR_156488.1:n.682+33C>T
XM_011532028.2:c.595+33C>T XP_011530330.1:n.595+33C>T
NM_000297.4:c.595+33C>T MANE Select NP_000288.1:n.595+33C>T
NR_156488.2:n.694+33C>T
Search 100 bp 5'
Search 100 bp 3'